#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
MEF2B	100271849	broad.mit.edu	37	19	19257365	19257366	+	Splice_Site	INS	-	-	G			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:19257365_19257366insG	ENST00000602424.2	-	9	1493_1494	c.767_768insC	c.(766-768)cca>ccCa	p.P256fs	MEF2B_ENST00000409224.1_Splice_Site_p.P259fs|MEF2B_ENST00000424583.2_Splice_Site_p.P256fs|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000409447.2_Splice_Site_p.S212fs|MEF2B_ENST00000162023.5_Splice_Site_p.P256fs|MEF2BNB-MEF2B_ENST00000514819.3_Splice_Site_p.P273fs|MEF2BNB-MEF2B_ENST00000444486.3_Splice_Site_p.P256fs|MEF2B_ENST00000410050.1_Splice_Site_p.P256fs	NM_005919.3	NP_005910.1	Q02080	MEF2B_HUMAN	myocyte enhancer factor 2B	256					muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E257fs*28(1)|p.V257fs*76(1)		breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGGATGTACCTGGGGGGCCTCC	0.653																																					p.P256fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.768_769insC	19						.																																			19118366	SO:0001630	splice_region_variant	4207	exon7			X63380	CCDS12394.1, CCDS46024.1	19p13.11	2010-05-12	2007-04-24					"""Myocyte enhancer factors"""	6995	protein-coding gene	gene with protein product		600661				1516833, 8575763	Standard	NM_001145785		Approved	RSRFR2	uc002nll.2	Q02080		ENST00000602424.2:c.769+1->C	19.37:g.19257371_19257371dupG			19118365	NM_001145785	A0AV80|B4DVH7|B7ZVY1|G5E9M1	Frame_Shift_Ins	INS	ENST00000602424.2	37	CCDS12394.1																																																																																				0.653	MEF2B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_005919	Frame_Shift_Ins
MUC5B	727897	broad.mit.edu	37	11	1264583	1264584	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:1264583_1264584insC	ENST00000529681.1	+	31	6531_6532	c.6473_6474insC	c.(6472-6477)atccccfs	p.IP2158fs	MUC5B_ENST00000447027.1_Frame_Shift_Ins_p.IP2161fs|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2158	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.V2164fs*98(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		acaactcccatccccccagtgc	0.649																																					p.I2158fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.6473_6474insC	11						.																																			1221160	SO:0001589	frameshift_variant	727897	exon31			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6479dupC	11.37:g.1264589_1264589dupC	ENSP00000436812:p.Ile2158fs		1221159	NM_002458	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Ins	INS	ENST00000529681.1	37	CCDS44515.2																																																																																				0.649	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
KIAA0895L	653319	broad.mit.edu	37	16	67214468	67214469	+	Frame_Shift_Ins	INS	-	-	G	rs376513527		TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:67214468_67214469insG	ENST00000290881.7	-	3	971_972	c.45_46insC	c.(43-48)cccagcfs	p.S16fs	KIAA0895L_ENST00000563902.1_Frame_Shift_Ins_p.S16fs|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Frame_Shift_Ins_p.S16fs			Q68EN5	K895L_HUMAN	KIAA0895-like	16	Pro-rich.							p.S16fs*12(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GTAGGCGGGCTGGGGGGTGCCT	0.649																																					p.S16fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.46_47insC	16						.																																			65771970	SO:0001589	frameshift_variant	653319	exon2			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.46dupC	16.37:g.67214474_67214474dupG	ENSP00000290881:p.Ser16fs		65771969	NM_001040715	A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Frame_Shift_Ins	INS	ENST00000290881.7	37	CCDS42177.1																																																																																				0.649	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715	
CDH15	1013	broad.mit.edu	37	16	89245927	89245928	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:89245927_89245928insC	ENST00000289746.2	+	2	211_212	c.146_147insC	c.(145-150)atccccfs	p.IP49fs	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	49					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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I52fs*38(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCTGGGTCATCCCCCCGATCA	0.683																																					p.I49fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.146_147insC	16						.																																			87773429	SO:0001589	frameshift_variant	1013	exon2			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.152dupC	16.37:g.89245933_89245933dupC	ENSP00000289746:p.Ile49fs		87773428	NM_004933		Frame_Shift_Ins	INS	ENST00000289746.2	37	CCDS10976.1																																																																																				0.683	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933	
FAM193B	54540	broad.mit.edu	37	5	176963530	176963531	+	Frame_Shift_Ins	INS	-	-	G	rs543681398		TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:176963530_176963531insG	ENST00000514747.1	-	4	952_953	c.904_905insC	c.(904-906)cacfs	p.H302fs	FAM193B_ENST00000443375.2_Frame_Shift_Ins_p.H189fs|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	302	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H189fs*55(1)		kidney(1)|large_intestine(3)	4						CCCTGGAGTGTGGGGGGCAGTG	0.673																																					p.H302fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.905_906insC	5						.																																			176896137	SO:0001589	frameshift_variant	54540	exon4				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.905dupC	5.37:g.176963536_176963536dupG	ENSP00000422131:p.His302fs		176896136	NM_001190946	E9PET5|Q9NW00	Frame_Shift_Ins	INS	ENST00000514747.1	37	CCDS54954.1																																																																																				0.673	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057	
SRRT	51593	broad.mit.edu	37	7	100484691	100484691	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:100484691C>T	ENST00000347433.4	+	15	2003	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	SRRT_ENST00000432932.1_Silent_p.Y614Y|SRRT_ENST00000457580.2_Silent_p.Y615Y|SRRT_ENST00000388793.4_Silent_p.Y614Y			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	615					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Y615Y(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCTCCTTTACCTGCGCATCG	0.602																																					p.Y614Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1842T	7						.						167.0	159.0	162.0					7																	100484691		2203	4300	6503	100322627	SO:0001819	synonymous_variant	51593	exon15				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1845C>T	7.37:g.100484691C>T			100322627	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	CCDS34709.1																																																																																				0.602	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
LRRC17	10234	broad.mit.edu	37	7	102584740	102584740	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:102584740G>T	ENST00000339431.4	+	4	1307	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	338					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.D338Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CGTATTAGAAGACTTGTATTT	0.368																																					p.D338Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1012T	7						.						122.0	125.0	124.0					7																	102584740		2203	4299	6502	102371976	SO:0001583	missense	10234	exon4			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.1012G>T	7.37:g.102584740G>T	ENSP00000344242:p.Asp338Tyr		102371976	NM_001031692	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154375	0.78114	.	.	ENSG00000128606	ENST00000339431	T	0.58797	0.31	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000009	T	0.64702	0.2622	L	0.28694	0.88	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	T	0.63391	-0.6648	10	0.44086	T	0.13	-37.2838	16.293	0.82759	0.0:0.1321:0.8679:0.0	.	338	Q8N6Y2	LRC17_HUMAN	Y	338	ENSP00000344242:D338Y	ENSP00000344242:D338Y	D	+	1	0	LRRC17	102371976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.925000	0.87563	2.746000	0.94184	0.655000	0.94253	GAC		0.368	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824	
DNAJC2	27000	broad.mit.edu	37	7	102957318	102957318	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:102957318T>C	ENST00000379263.3	-	13	1636	c.1386A>G	c.(1384-1386)ctA>ctG	p.L462L	DNAJC2_ENST00000249270.7_Silent_p.L409L|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	462	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.L420L(1)|p.L409L(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CAGCTTTAATTAGTAATTGTA	0.398																																					p.L409L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1227G	7						.						149.0	138.0	141.0					7																	102957318		1846	4085	5931	102744554	SO:0001819	synonymous_variant	27000	exon11			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1386A>G	7.37:g.102957318T>C			102744554	NM_001129887	A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	CCDS43628.1																																																																																				0.398	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1		
DNAJC2	27000	broad.mit.edu	37	7	102967024	102967024	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:102967024C>T	ENST00000379263.3	-	5	788	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	DNAJC2_ENST00000249270.7_Missense_Mutation_p.E180K|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	180	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.E180K(2)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTAAACACTTCGAAGAAATTA	0.378																																					p.E180K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G538A	7						.						103.0	98.0	99.0					7																	102967024		1853	4094	5947	102754260	SO:0001583	missense	27000	exon5			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.538G>A	7.37:g.102967024C>T	ENSP00000368565:p.Glu180Lys		102754260	NM_001129887	A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	c	14.14	2.445250	0.43429	.	.	ENSG00000105821	ENST00000249270;ENST00000379263;ENST00000537811;ENST00000454277	.	.	.	5.55	3.74	0.42951	.	0.303254	0.40469	N	0.001091	T	0.28300	0.0699	N	0.11341	0.13	0.80722	D	1	B;B	0.17465	0.022;0.0	B;B	0.12156	0.007;0.001	T	0.09250	-1.0683	9	0.06625	T	0.88	-22.3275	11.3252	0.49444	0.0:0.8006:0.1309:0.0685	.	180;180	Q99543-2;Q99543	.;DNJC2_HUMAN	K	180;180;180;106	.	ENSP00000249270:E180K	E	-	1	0	DNAJC2	102754260	0.993000	0.37304	0.972000	0.41901	0.975000	0.68041	2.817000	0.48034	0.889000	0.36185	-0.185000	0.12909	GAA		0.378	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1		
RELN	5649	broad.mit.edu	37	7	103159849	103159849	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:103159849G>T	ENST00000428762.1	-	49	7942	c.7783C>A	c.(7783-7785)Ctc>Atc	p.L2595I	RELN_ENST00000424685.2_Missense_Mutation_p.L2595I|RELN_ENST00000343529.5_Missense_Mutation_p.L2595I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2595					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.L2595I(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)		TATTCCAAGAGAACACCTTGG	0.413																																					p.L2595I	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7783A	7						.						163.0	133.0	143.0					7																	103159849		2203	4300	6503	102947085	SO:0001583	missense	5649	exon49				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.7783C>A	7.37:g.103159849G>T	ENSP00000392423:p.Leu2595Ile		102947085	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092888	0.94149	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.25250	1.81;1.81;1.81	5.87	5.87	0.94306	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.60455	1.87	0.58432	D	0.999999	D;B	0.61080	0.989;0.036	D;B	0.70716	0.97;0.435	T	0.43245	-0.9403	10	0.72032	D	0.01	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	2595;2595	P78509-2;P78509	.;RELN_HUMAN	I	2595;2595;2595;112;2595	ENSP00000392423:L2595I;ENSP00000345694:L2595I;ENSP00000388446:L2595I	ENSP00000345694:L2595I	L	-	1	0	RELN	102947085	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.595000	0.82710	2.780000	0.95670	0.655000	0.94253	CTC		0.413	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
NAMPT	10135	broad.mit.edu	37	7	105908954	105908954	+	Silent	SNP	C	C	T	rs61740998		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:105908954C>T	ENST00000222553.3	-	6	1006	c.699G>A	c.(697-699)acG>acA	p.T233T	NAMPT_ENST00000484527.1_5'Flank|NAMPT_ENST00000354289.4_Silent_p.T233T	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	233					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)	p.T233T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CAGGATCTTTCGTTCCATAAT	0.358																																					p.T233T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G699A	7						.						46.0	49.0	48.0					7																	105908954		2203	4300	6503	105696190	SO:0001819	synonymous_variant	10135	exon6			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.699G>A	7.37:g.105908954C>T			105696190	NM_005746	A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Silent	SNP	ENST00000222553.3	37	CCDS5737.1																																																																																				0.358	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790	
PRKAR2B	5577	broad.mit.edu	37	7	106710753	106710753	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:106710753G>A	ENST00000265717.4	+	2	594	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PRKAR2B_ENST00000393613.2_3'UTR	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	112	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.R112H(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TTCACAAGGCGTGCCTCAGGT	0.303																																					p.R112H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	7						.						86.0	89.0	88.0					7																	106710753		2203	4297	6500	106497989	SO:0001583	missense	5577	exon2				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.335G>A	7.37:g.106710753G>A	ENSP00000265717:p.Arg112His		106497989	NM_002736	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879358	0.51801	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.87412	-2.25	4.05	4.05	0.47172	.	0.051579	0.64402	D	0.000003	D	0.82986	0.5156	M	0.78049	2.395	0.44373	D	0.997277	P	0.49696	0.927	B	0.31191	0.125	D	0.86525	0.1818	10	0.87932	D	0	-26.9415	11.91	0.52733	0.0:0.0:1.0:0.0	.	112	P31323	KAP3_HUMAN	H	112;112;99	ENSP00000265717:R112H	ENSP00000265717:R112H	R	+	2	0	PRKAR2B	106497989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.590000	0.61013	2.250000	0.74265	0.655000	0.94253	CGT		0.303	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		
SLC26A4	5172	broad.mit.edu	37	7	107315540	107315540	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:107315540C>A	ENST00000265715.3	+	6	975	c.751C>A	c.(751-753)Ctc>Atc	p.L251I		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	251					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.L251I(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						CAATGGAGTTCTCTCTATTAT	0.453									Pendred syndrome																												p.L251I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C751A	7						.						162.0	161.0	161.0					7																	107315540		2203	4300	6503	107102776	SO:0001583	missense	5172	exon6	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.751C>A	7.37:g.107315540C>A	ENSP00000265715:p.Leu251Ile		107102776	NM_000441	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566987	0.86439	.	.	ENSG00000091137	ENST00000265715	D	0.92805	-3.11	5.59	5.59	0.84812	Sulphate transporter (1);	0.074268	0.56097	D	0.000037	D	0.94188	0.8135	L	0.52823	1.66	0.80722	D	1	D	0.55605	0.972	P	0.60609	0.877	D	0.91857	0.5496	10	0.22706	T	0.39	.	19.5865	0.95492	0.0:1.0:0.0:0.0	.	251	O43511	S26A4_HUMAN	I	251	ENSP00000265715:L251I	ENSP00000265715:L251I	L	+	1	0	SLC26A4	107102776	0.997000	0.39634	1.000000	0.80357	0.971000	0.66376	3.438000	0.52871	2.638000	0.89438	0.650000	0.86243	CTC		0.453	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
DOCK4	9732	broad.mit.edu	37	7	111540490	111540490	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:111540490G>A	ENST00000437633.1	-	15	1676	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.P474S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	474	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.P462S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACAGGAATGGGAAGTTTCAGC	0.502																																					p.P474S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1420T	7						.						94.0	91.0	92.0					7																	111540490		1966	4154	6120	111327726	SO:0001583	missense	9732	exon15				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1420C>T	7.37:g.111540490G>A	ENSP00000404179:p.Pro474Ser		111327726	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169606	0.57584	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.12672	2.66;2.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	N	0.25031	0.7	0.80722	D	1	B;B;B	0.32968	0.213;0.392;0.392	B;B;B	0.41174	0.262;0.349;0.262	T	0.08953	-1.0697	10	0.09843	T	0.71	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	474;474;474	Q149N2;Q149N5;Q8N1I0	.;.;DOCK4_HUMAN	S	462;474;474;462;473	ENSP00000410746:P474S;ENSP00000404179:P474S	ENSP00000345432:P462S	P	-	1	0	DOCK4	111327726	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.518000	0.73764	2.873000	0.98535	0.563000	0.77884	CCC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
TMEM168	64418	broad.mit.edu	37	7	112424286	112424286	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:112424286A>C	ENST00000312814.6	-	2	1155	c.595T>G	c.(595-597)Ttc>Gtc	p.F199V	TMEM168_ENST00000454074.1_Missense_Mutation_p.F199V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	199						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.F199V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCTAAGAAAGATTTCATT	0.358																																					p.F199V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T595G	7						.						41.0	43.0	42.0					7																	112424286		2203	4300	6503	112211522	SO:0001583	missense	64418	exon2				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.595T>G	7.37:g.112424286A>C	ENSP00000323068:p.Phe199Val		112211522	NM_022484	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822256	0.50739	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.090444	0.85682	D	0.000000	T	0.49236	0.1545	L	0.44542	1.39	0.80722	D	1	B	0.33807	0.426	B	0.29077	0.098	T	0.44159	-0.9346	9	0.23891	T	0.37	-20.4302	16.6245	0.84952	1.0:0.0:0.0:0.0	.	199	Q9H0V1	TM168_HUMAN	V	199	.	ENSP00000323068:F199V	F	-	1	0	TMEM168	112211522	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.475000	0.53136	2.323000	0.78572	0.528000	0.53228	TTC		0.358	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
PPP1R3A	5506	broad.mit.edu	37	7	113519740	113519740	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:113519740T>G	ENST00000284601.3	-	4	1475	c.1407A>C	c.(1405-1407)aaA>aaC	p.K469N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	469					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.K469N(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						CTCCTTCATGTTTTTTATTAA	0.398																																					p.K469N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1407C	7						.						55.0	55.0	55.0					7																	113519740		2203	4297	6500	113306976	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.1407A>C	7.37:g.113519740T>G	ENSP00000284601:p.Lys469Asn		113306976	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.449724	0.26074	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.37235	2.26;1.21	5.52	-3.9	0.04181	.	0.704761	0.13681	N	0.370152	T	0.20455	0.0492	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21348	-1.0248	10	0.21540	T	0.41	-2.6918	2.6967	0.05137	0.115:0.2748:0.1:0.5102	.	469	Q16821	PPR3A_HUMAN	N	469;148	ENSP00000284601:K469N;ENSP00000401278:K148N	ENSP00000284601:K469N	K	-	3	2	PPP1R3A	113306976	0.000000	0.05858	0.001000	0.08648	0.053000	0.15095	-0.052000	0.11865	-0.901000	0.03891	-1.450000	0.01041	AAA		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
PPP1R3A	5506	broad.mit.edu	37	7	113522155	113522155	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:113522155C>T	ENST00000284601.3	-	3	973	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	302					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.R302Q(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						TTTTACATTTCGATTACTGGC	0.338																																					p.R302Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	7						.						192.0	160.0	171.0					7																	113522155		2203	4300	6503	113309391	SO:0001583	missense	5506	exon3			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.905G>A	7.37:g.113522155C>T	ENSP00000284601:p.Arg302Gln		113309391	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.388949	0.01185	.	.	ENSG00000154415	ENST00000284601	T	0.13307	2.6	5.92	3.51	0.40186	.	0.301944	0.28641	N	0.014635	T	0.02193	0.0068	N	0.00104	-2.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43718	-0.9374	10	0.02654	T	1	-2.2676	9.2721	0.37677	0.0:0.0642:0.123:0.8128	.	302	Q16821	PPR3A_HUMAN	Q	302	ENSP00000284601:R302Q	ENSP00000284601:R302Q	R	-	2	0	PPP1R3A	113309391	0.997000	0.39634	0.412000	0.26496	0.974000	0.67602	1.506000	0.35747	0.460000	0.27045	-0.415000	0.06103	CGA		0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
MDFIC	29969	broad.mit.edu	37	7	114619680	114619680	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:114619680G>A	ENST00000393486.1	+	4	927	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	MDFIC_ENST00000257724.3_Missense_Mutation_p.A222T	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.A222T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TCACCACGGGGCCAAACACGG	0.463																																					p.A222T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G664A	7						.						92.0	90.0	90.0					7																	114619680		2203	4300	6503	114406916	SO:0001583	missense	29969	exon4			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.337G>A	7.37:g.114619680G>A	ENSP00000377126:p.Ala113Thr		114406916	NM_199072		Missense_Mutation	SNP	ENST00000393486.1	37	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768681	0.69878	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.11	0.69529	.	0.518379	0.19372	N	0.115871	T	0.58864	0.2152	L	0.50919	1.6	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.56757	-0.7926	9	0.59425	D	0.04	1.5523	15.0715	0.72040	0.0678:0.0:0.9322:0.0	.	113	Q9P1T7	MDFIC_HUMAN	T	222;113;99;58	.	ENSP00000257724:A222T	A	+	1	0	MDFIC	114406916	1.000000	0.71417	0.968000	0.41197	0.848000	0.48234	3.757000	0.55212	1.538000	0.49270	0.591000	0.81541	GCC		0.463	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
MET	4233	broad.mit.edu	37	7	116339776	116339776	+	Missense_Mutation	SNP	C	C	T	rs367722737		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:116339776C>T	ENST00000318493.6	+	2	825	c.638C>T	c.(637-639)tCg>tTg	p.S213L	MET_ENST00000436117.2_Missense_Mutation_p.S213L|MET_ENST00000397752.3_Missense_Mutation_p.S213L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S213L(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)			CCATTGCATTCGATATCAGTG	0.403			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.S213L			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.C638T	7						.	C	LEU/SER,LEU/SER	0,3788		0,0,1894	160.0	157.0	158.0		638,638	6.2	1.0	7		158	1,8231		0,1,4115	no	missense,missense	MET	NM_000245.2,NM_001127500.1	145,145	0,1,6009	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	213/1391,213/1409	116339776	1,12019	1894	4116	6010	116127012	SO:0001583	missense	4233	exon2	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.638C>T	7.37:g.116339776C>T	ENSP00000317272:p.Ser213Leu		116127012	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497776	0.64186	0.0	1.21E-4	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.14640	2.49;2.49;2.49	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056791	0.64402	D	0.000001	T	0.42607	0.1210	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.999;0.999;0.999;0.999;1.0;0.997;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.976;0.975;1.0;0.962;0.975;0.975;0.975;0.975;0.999;0.942;0.975;0.999;0.999	T	0.09662	-1.0664	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	213;213;213;213;213;213;213;213;213;213;213;213;213	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	L	213	ENSP00000380860:S213L;ENSP00000317272:S213L;ENSP00000410980:S213L	ENSP00000317272:S213L	S	+	2	0	MET	116127012	1.000000	0.71417	0.973000	0.42090	0.367000	0.29736	7.210000	0.77924	2.941000	0.99782	0.655000	0.94253	TCG		0.403	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
CTTNBP2	83992	broad.mit.edu	37	7	117359688	117359688	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:117359688G>T	ENST00000160373.3	-	21	4605	c.4514C>A	c.(4513-4515)tCt>tAt	p.S1505Y		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1505					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S1505Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTCTCTAAAGACCTAACACA	0.408																																					p.S1505Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4514A	7						.						100.0	93.0	95.0					7																	117359688		2203	4300	6503	117146924	SO:0001583	missense	83992	exon21				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4514C>A	7.37:g.117359688G>T	ENSP00000160373:p.Ser1505Tyr		117146924	NM_033427	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618381	0.46736	.	.	ENSG00000077063	ENST00000160373	T	0.67171	-0.25	5.24	4.36	0.52297	.	0.473985	0.22785	N	0.055674	T	0.67277	0.2876	M	0.80183	2.485	0.29416	N	0.860866	P	0.35208	0.49	B	0.30029	0.11	T	0.69844	-0.5035	10	0.87932	D	0	-3.8474	14.6927	0.69098	0.0:0.1633:0.8367:0.0	.	1505	Q8WZ74	CTTB2_HUMAN	Y	1505	ENSP00000160373:S1505Y	ENSP00000160373:S1505Y	S	-	2	0	CTTNBP2	117146924	1.000000	0.71417	0.861000	0.33841	0.960000	0.62799	5.049000	0.64244	1.324000	0.45282	0.563000	0.77884	TCT		0.408	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CPED1	79974	broad.mit.edu	37	7	120767207	120767207	+	Nonsense_Mutation	SNP	G	G	T	rs202229385		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:120767207G>T	ENST00000310396.5	+	10	1665	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	CPED1_ENST00000423795.1_Nonsense_Mutation_p.E180*|CPED1_ENST00000450913.2_Nonsense_Mutation_p.E400*	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	400						endoplasmic reticulum (GO:0005783)		p.E400*(1)									AAATACAGAAGAATTCCTTTT	0.289																																					p.E400X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1198T	7						.						87.0	93.0	91.0					7																	120767207		2198	4291	6489	120554443	SO:0001587	stop_gained	79974	exon10				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1198G>T	7.37:g.120767207G>T	ENSP00000309772:p.Glu400*		120554443	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120807	0.94385	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	.	.	.	4.33	1.4	0.22301	.	0.519378	0.20018	N	0.100962	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.1038	0.25353	0.2963:0.0:0.7037:0.0	.	.	.	.	X	400;400;400;180;180	.	ENSP00000309772:E400X	E	+	1	0	C7orf58	120554443	1.000000	0.71417	0.979000	0.43373	0.751000	0.42716	0.969000	0.29370	0.367000	0.24454	0.467000	0.42956	GAA		0.289	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
HYAL4	23553	broad.mit.edu	37	7	123508524	123508524	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:123508524G>T	ENST00000223026.4	+	3	835	c.197G>T	c.(196-198)aGa>aTa	p.R66I	HYAL4_ENST00000476325.1_Missense_Mutation_p.R66I	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	66					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.R66I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TATAATTTAAGACTAAATTTG	0.378																																					p.R66I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G197T	7						.						39.0	43.0	42.0					7																	123508524		2202	4299	6501	123295760	SO:0001583	missense	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.197G>T	7.37:g.123508524G>T	ENSP00000223026:p.Arg66Ile		123295760	NM_012269	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125070	0.20959	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.29917	1.55;1.55	5.19	-2.26	0.06867	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.760794	0.12554	N	0.458819	T	0.14743	0.0356	L	0.27053	0.805	0.09310	N	1	B;B	0.18013	0.006;0.025	B;B	0.22152	0.014;0.038	T	0.25047	-1.0143	9	.	.	.	-6.6542	1.1735	0.01830	0.3063:0.2784:0.2703:0.145	.	66;66	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	I	66	ENSP00000223026:R66I;ENSP00000417186:R66I	.	R	+	2	0	HYAL4	123295760	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	-0.880000	0.04183	-0.277000	0.09193	0.655000	0.94253	AGA		0.378	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
SPAM1	6677	broad.mit.edu	37	7	123593734	123593734	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:123593734A>C	ENST00000439500.1	+	4	723	c.110A>C	c.(109-111)aAt>aCt	p.N37T	SPAM1_ENST00000460182.1_Missense_Mutation_p.N37T|SPAM1_ENST00000402183.2_Missense_Mutation_p.N37T|SPAM1_ENST00000223028.7_Missense_Mutation_p.N37T|SPAM1_ENST00000340011.5_Missense_Mutation_p.N37T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	37					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.N37T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGACTCTGAATTTCAGAGCA	0.403																																					p.N37T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A110C	7						.						77.0	71.0	73.0					7																	123593734		2203	4300	6503	123380970	SO:0001583	missense	6677	exon3			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.110A>C	7.37:g.123593734A>C	ENSP00000402123:p.Asn37Thr		123380970	NM_001174044	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522358	0.27211	.	.	ENSG00000106304	ENST00000402183;ENST00000413927;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T;T	0.41400	2.57;1.0;2.57;2.57;2.57;2.57	6.02	4.82	0.62117	.	1.441520	0.03853	N	0.272659	T	0.28962	0.0719	N	0.08118	0	0.09310	N	1	B;B	0.24132	0.098;0.098	B;B	0.15484	0.013;0.013	T	0.11227	-1.0596	10	0.23891	T	0.37	-20.075	13.9514	0.64118	0.8656:0.1344:0.0:0.0	.	37;37	Q8TC30;P38567	.;HYALP_HUMAN	T	37	ENSP00000386028:N37T;ENSP00000391491:N37T;ENSP00000417934:N37T;ENSP00000345849:N37T;ENSP00000402123:N37T;ENSP00000223028:N37T	ENSP00000223028:N37T	N	+	2	0	SPAM1	123380970	0.026000	0.19158	0.003000	0.11579	0.130000	0.20726	3.082000	0.50128	2.299000	0.77371	0.528000	0.53228	AAT		0.403	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
GCC1	79571	broad.mit.edu	37	7	127224531	127224531	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:127224531G>A	ENST00000321407.2	-	1	1130	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	236					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R236W(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTTGGGCCCGATCATGCTGC	0.597											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.R236W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	7						.						80.0	76.0	77.0					7																	127224531		2203	4300	6503	127011767	SO:0001583	missense	79571	exon1			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.706C>T	7.37:g.127224531G>A	ENSP00000318821:p.Arg236Trp	1555	127011767	NM_024523	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325192	0.60634	.	.	ENSG00000179562	ENST00000321407	T	0.55234	0.53	5.27	0.919	0.19392	.	0.106801	0.64402	D	0.000016	T	0.67998	0.2953	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.71279	-0.4640	10	0.66056	D	0.02	-32.1056	13.6083	0.62061	0.0:0.0:0.462:0.538	.	236	Q96CN9	GCC1_HUMAN	W	236	ENSP00000318821:R236W	ENSP00000318821:R236W	R	-	1	2	GCC1	127011767	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.788000	0.26872	0.315000	0.23110	-0.182000	0.12963	CGG		0.597	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
GCC1	79571	broad.mit.edu	37	7	127224767	127224767	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:127224767C>A	ENST00000321407.2	-	1	894	c.470G>T	c.(469-471)aGa>aTa	p.R157I	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	157					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R157I(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGGTGCAGTCTTTTGTCCAC	0.552																																					p.R157I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G470T	7						.						115.0	114.0	114.0					7																	127224767		2203	4300	6503	127012003	SO:0001583	missense	79571	exon1			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.470G>T	7.37:g.127224767C>A	ENSP00000318821:p.Arg157Ile		127012003	NM_024523	Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259138	0.80246	.	.	ENSG00000179562	ENST00000321407	T	0.13089	2.62	5.96	5.96	0.96718	.	0.114641	0.53938	D	0.000044	T	0.30603	0.0770	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.00397	-1.1765	10	0.49607	T	0.09	-12.3947	11.2654	0.49108	0.0:0.9177:0.0:0.0823	.	157	Q96CN9	GCC1_HUMAN	I	157	ENSP00000318821:R157I	ENSP00000318821:R157I	R	-	2	0	GCC1	127012003	0.981000	0.34729	0.977000	0.42913	0.998000	0.95712	3.589000	0.53972	2.844000	0.97970	0.650000	0.86243	AGA		0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
PLXNA4	91584	broad.mit.edu	37	7	131888126	131888126	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:131888126A>G	ENST00000359827.3	-	11	3313	c.2351T>C	c.(2350-2352)gTg>gCg	p.V784A	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V784A			Q9HCM2	PLXA4_HUMAN	plexin A4	784					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.V784A(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCATTCCACACGACTGTCAA	0.557																																					p.V784A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2351C	7						.						118.0	116.0	117.0					7																	131888126		1955	4140	6095	131538666	SO:0001583	missense	91584	exon11			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.2351T>C	7.37:g.131888126A>G	ENSP00000352882:p.Val784Ala		131538666	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499304	0.64298	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.66460	-0.21;-0.21	4.76	4.76	0.60689	.	0.063440	0.64402	D	0.000006	T	0.67664	0.2917	M	0.83312	2.635	0.49582	D	0.9998	B	0.23442	0.085	B	0.18871	0.023	T	0.65915	-0.6052	10	0.23302	T	0.38	.	14.6154	0.68544	1.0:0.0:0.0:0.0	.	784	Q9HCM2	PLXA4_HUMAN	A	784	ENSP00000323194:V784A;ENSP00000352882:V784A	ENSP00000323194:V784A	V	-	2	0	PLXNA4	131538666	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	9.287000	0.95975	1.916000	0.55485	0.459000	0.35465	GTG		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132192727	132192727	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:132192727G>T	ENST00000359827.3	-	2	1688	c.726C>A	c.(724-726)atC>atA	p.I242I	PLXNA4_ENST00000378539.5_Silent_p.I242I|PLXNA4_ENST00000321063.4_Silent_p.I242I|PLXNA4_ENST00000423507.2_Silent_p.I242I			Q9HCM2	PLXA4_HUMAN	plexin A4	242	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.I242I(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGACATAGTAGATATCAAAGT	0.498																																					p.I242I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C726A	7						.						97.0	90.0	92.0					7																	132192727		2203	4300	6503	131843267	SO:0001819	synonymous_variant	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.726C>A	7.37:g.132192727G>T			131843267	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.498	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CALD1	800	broad.mit.edu	37	7	134644857	134644857	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:134644857A>C	ENST00000361675.2	+	12	2423	c.2194A>C	c.(2194-2196)Aat>Cat	p.N732H	CALD1_ENST00000361388.2_Missense_Mutation_p.N503H|CALD1_ENST00000417172.1_Missense_Mutation_p.N477H|CALD1_ENST00000393118.2_Missense_Mutation_p.N497H|CALD1_ENST00000424922.1_Missense_Mutation_p.N471H|CALD1_ENST00000422748.1_Missense_Mutation_p.N502H|CALD1_ENST00000361901.2_Missense_Mutation_p.N477H|CALD1_ENST00000543443.1_Missense_Mutation_p.N482H|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_Missense_Mutation_p.N496H			Q05682	CALD1_HUMAN	caldesmon 1	732					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.N732H(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						AGGCACACCAAATAAGGTGAG	0.418																																					p.N502H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1504C	7						.						117.0	100.0	106.0					7																	134644857		2203	4300	6503	134295397	SO:0001583	missense	800	exon12			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.2194A>C	7.37:g.134644857A>C	ENSP00000354826:p.Asn732His		134295397	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524426	0.44969	.	.	ENSG00000122786	ENST00000417172;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.56097	D	0.000036	T	0.74268	0.3694	M	0.80982	2.52	0.44579	D	0.997542	D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.996;0.997;0.997;0.996;0.996;0.999;0.996;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.991;0.985;0.991;0.991;0.978;0.978;0.985;0.985;0.996;0.999	T	0.77233	-0.2663	10	0.56958	D	0.05	-27.9772	16.0292	0.80564	1.0:0.0:0.0:0.0	.	426;482;502;496;471;497;477;503;732;477	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	H	477;503;502;110;732;477;497;471;496;482	ENSP00000398826:N477H;ENSP00000355000:N503H;ENSP00000395710:N502H;ENSP00000354826:N732H;ENSP00000354513:N477H;ENSP00000376826:N497H;ENSP00000393621:N471H;ENSP00000419673:N496H;ENSP00000445641:N482H	ENSP00000355000:N503H	N	+	1	0	CALD1	134295397	1.000000	0.71417	0.894000	0.35097	0.017000	0.09413	5.161000	0.64935	2.187000	0.69744	0.533000	0.62120	AAT		0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
DGKI	9162	broad.mit.edu	37	7	137080385	137080385	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:137080385G>T	ENST00000288490.5	-	33	3040	c.3040C>A	c.(3040-3042)Ctg>Atg	p.L1014M	DGKI_ENST00000453654.2_Missense_Mutation_p.L683M|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.L996M|DGKI_ENST00000424189.2_Missense_Mutation_p.L1027M	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1014					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.L1014M(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCATCCACCAGAAGCTGGCAC	0.562																																					p.L1014M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3040A	7						.						77.0	67.0	71.0					7																	137080385		2203	4300	6503	136730925	SO:0001583	missense	9162	exon33			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3040C>A	7.37:g.137080385G>T	ENSP00000288490:p.Leu1014Met		136730925	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634513	0.67130	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.73575	-0.76;-0.76;-0.76	5.35	3.52	0.40303	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000002	D	0.89350	0.6690	H	0.96777	3.88	0.47905	D	0.999543	D;D	0.89917	0.998;1.0	D;D	0.83275	0.983;0.996	D	0.90760	0.4664	10	0.87932	D	0	.	9.8701	0.41168	0.2169:0.0:0.7831:0.0	.	683;1014	E9PFX6;O75912	.;DGKI_HUMAN	M	683;931;1017;1014;996	ENSP00000392161:L683M;ENSP00000288490:L1014M;ENSP00000399131:L996M	ENSP00000288490:L1014M	L	-	1	2	DGKI	136730925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.207000	0.42788	1.379000	0.46325	0.650000	0.86243	CTG		0.562	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
WEE2	494551	broad.mit.edu	37	7	141418873	141418873	+	Splice_Site	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:141418873G>T	ENST00000397541.2	+	4	993	c.587G>T	c.(586-588)aGa>aTa	p.R196I	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	196					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R196I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATACTTTAGAGATGTGTTTTA	0.338																																					p.R196I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587T	7						.						80.0	78.0	79.0					7																	141418873		1791	4062	5853	141065342	SO:0001630	splice_region_variant	494551	exon4			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.586-1G>T	7.37:g.141418873G>T			141065342	NM_001105558		Missense_Mutation	SNP	ENST00000397541.2	37	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154122	0.78114	.	.	ENSG00000214102	ENST00000397541	T	0.26660	1.72	5.52	2.22	0.28083	Protein kinase-like domain (1);	0.000000	0.85682	U	0.000000	T	0.47210	0.1433	M	0.80746	2.51	0.80722	D	1	D	0.56287	0.975	P	0.62491	0.903	T	0.46456	-0.9190	10	0.87932	D	0	.	11.0835	0.48074	0.1837:0.0:0.8163:0.0	.	196	P0C1S8	WEE2_HUMAN	I	196	ENSP00000380675:R196I	ENSP00000380675:R196I	R	+	2	0	WEE2	141065342	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	4.449000	0.60034	0.132000	0.18615	0.561000	0.74099	AGA		0.338	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	Missense_Mutation
OR9A4	130075	broad.mit.edu	37	7	141618768	141618768	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:141618768C>A	ENST00000548136.1	+	1	152	c.93C>A	c.(91-93)ttC>ttA	p.F31L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTATATTCTTCTTTTTCTACT	0.403																																					p.F31L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C93A	7						.						209.0	219.0	216.0					7																	141618768		2197	4297	6494	141265237	SO:0001583	missense	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.93C>A	7.37:g.141618768C>A	ENSP00000448789:p.Phe31Leu		141265237	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.717146	0.00093	.	.	ENSG00000258083	ENST00000548136	T	0.00287	8.29	3.81	-1.49	0.08718	.	.	.	.	.	T	0.00073	0.0002	N	0.01188	-0.97	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13282	-1.0515	9	0.11794	T	0.64	-14.4428	0.1291	0.00072	0.2773:0.27:0.168:0.2848	.	31	Q8NGU2	OR9A4_HUMAN	L	31	ENSP00000448789:F31L	ENSP00000386148:F31L	F	+	3	2	OR9A4	141265237	0.000000	0.05858	0.033000	0.17914	0.070000	0.16714	-1.508000	0.02266	-0.479000	0.06813	-0.183000	0.12914	TTC		0.403	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
OR9A4	130075	broad.mit.edu	37	7	141619232	141619232	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:141619232A>C	ENST00000548136.1	+	1	616	c.557A>C	c.(556-558)aAa>aCa	p.K186T	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K186T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CAATTGCTCAAACTATCCTGC	0.383																																					p.K186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557C	7						.						163.0	162.0	163.0					7																	141619232		2063	4246	6309	141265701	SO:0001583	missense	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.557A>C	7.37:g.141619232A>C	ENSP00000448789:p.Lys186Thr		141265701	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.841537	0.32513	.	.	ENSG00000258083	ENST00000548136	T	0.00267	8.38	3.8	0.19	0.15125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00271	0.0008	M	0.84326	2.69	0.29884	N	0.825785	B	0.25206	0.12	B	0.32211	0.142	T	0.05354	-1.0890	9	0.72032	D	0.01	-3.4582	6.929	0.24432	0.677:0.0:0.323:0.0	.	186	Q8NGU2	OR9A4_HUMAN	T	186	ENSP00000448789:K186T	ENSP00000386148:K186T	K	+	2	0	OR9A4	141265701	0.000000	0.05858	0.382000	0.26119	0.386000	0.30323	1.132000	0.31418	0.181000	0.19994	0.533000	0.62120	AAA		0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
TAS2R39	259285	broad.mit.edu	37	7	142880937	142880937	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:142880937C>A	ENST00000446620.1	+	1	426	c.426C>A	c.(424-426)ttC>ttA	p.F142L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	142					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.F142L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TTGCCAATTTCTCCTACCCCC	0.393																																					p.F142L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C426A	7						.						94.0	87.0	89.0					7																	142880937		1881	4096	5977	142591059	SO:0001583	missense	259285	exon1			AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.426C>A	7.37:g.142880937C>A	ENSP00000405095:p.Phe142Leu		142591059	NM_176881	A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403736	0.62288	.	.	ENSG00000236398	ENST00000446620	T	0.00976	5.48	4.86	3.03	0.35002	.	.	.	.	.	T	0.02304	0.0071	M	0.72894	2.215	0.24371	N	0.994833	P	0.39883	0.693	P	0.45946	0.498	T	0.33445	-0.9868	9	0.72032	D	0.01	.	7.7302	0.28783	0.0:0.7065:0.0:0.2935	.	142	P59534	T2R39_HUMAN	L	142	ENSP00000405095:F142L	ENSP00000405095:F142L	F	+	3	2	TAS2R39	142591059	0.013000	0.17824	0.366000	0.25914	0.993000	0.82548	-0.000000	0.12993	0.742000	0.32697	0.650000	0.86243	TTC		0.393	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881	
OR6B1	135946	broad.mit.edu	37	7	143701517	143701517	+	Missense_Mutation	SNP	G	G	A	rs373139746		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:143701517G>A	ENST00000408922.2	+	1	496	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	143			R -> C (in dbSNP:rs7787378).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R143L(1)|p.R143H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTCTGCTTCCGCCTCGCTCTT	0.562																																					p.R143H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G428A	7						.	G	HIS/ARG	1,4287		0,1,2143	80.0	82.0	82.0		428	0.3	0.2	7		82	0,8558		0,0,4279	no	missense	OR6B1	NM_001005281.1	29	0,1,6422	AA,AG,GG		0.0,0.0233,0.0078	benign	143/312	143701517	1,12845	2144	4279	6423	143332450	SO:0001583	missense	135946	exon1				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"""GPCR / Class A : Olfactory receptors"""	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.428G>A	7.37:g.143701517G>A	ENSP00000386151:p.Arg143His		143332450	NM_001005281	A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	5.206	0.223507	0.09863	2.33E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00130	8.69	5.26	0.292	0.15737	GPCR, rhodopsin-like superfamily (1);	0.415982	0.17515	N	0.171466	T	0.00109	0.0003	L	0.39633	1.23	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.13710	-1.0499	10	0.15066	T	0.55	.	4.9549	0.14035	0.3181:0.0:0.5455:0.1364	.	143	O95007	OR6B1_HUMAN	H	143	ENSP00000386151:R143H	ENSP00000386151:R143H	R	+	2	0	OR6B1	143332450	0.000000	0.05858	0.157000	0.22605	0.142000	0.21351	-0.483000	0.06536	-0.124000	0.11724	0.655000	0.94253	CGC		0.562	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1		
OR2A5	393046	broad.mit.edu	37	7	143747556	143747556	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:143747556G>T	ENST00000408906.2	+	1	96	c.62G>T	c.(61-63)aGg>aTg	p.R21M		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R21M(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)					CTCAGCCTAAGGATTCAGATG	0.522																																					p.R21M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62T	7						.						99.0	108.0	105.0					7																	143747556		2170	4288	6458	143378489	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.62G>T	7.37:g.143747556G>T	ENSP00000386208:p.Arg21Met		143378489	NM_012365	B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	2.737	-0.263094	0.05754	.	.	ENSG00000221836	ENST00000408906	T	0.00441	7.41	5.06	-5.29	0.02747	.	.	.	.	.	T	0.00328	0.0010	L	0.39898	1.24	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.30475	-0.9977	9	0.62326	D	0.03	.	12.9787	0.58552	0.4141:0.0:0.5859:0.0	.	21	Q96R48	OR2A5_HUMAN	M	21	ENSP00000386208:R21M	ENSP00000386208:R21M	R	+	2	0	OR2A5	143378489	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.271000	0.01166	-1.080000	0.03109	-0.300000	0.09419	AGG		0.522	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1		
OR2A14	135941	broad.mit.edu	37	7	143827015	143827015	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:143827015G>T	ENST00000408899.2	+	1	865	c.810G>T	c.(808-810)caG>caT	p.Q270H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q270H(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGAGCAGCAGAAAGTTCTTT	0.552																																					p.Q270H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G810T	7						.						127.0	134.0	132.0					7																	143827015		1958	4157	6115	143457948	SO:0001583	missense	135941	exon1				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.810G>T	7.37:g.143827015G>T	ENSP00000386137:p.Gln270His		143457948	NM_001001659	Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	6.613	0.481575	0.12581	.	.	ENSG00000221938	ENST00000408899	T	0.00130	8.69	4.18	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.285780	0.18915	U	0.127625	T	0.00073	0.0002	N	0.14661	0.345	0.28911	N	0.892719	B	0.15141	0.012	B	0.24394	0.053	T	0.14615	-1.0466	10	0.59425	D	0.04	-3.9469	3.4177	0.07381	0.2224:0.0:0.5774:0.2002	.	270	Q96R47	O2A14_HUMAN	H	270	ENSP00000386137:Q270H	ENSP00000386137:Q270H	Q	+	3	2	OR2A14	143457948	0.002000	0.14202	1.000000	0.80357	0.089000	0.18198	0.240000	0.18042	0.481000	0.27557	0.561000	0.74099	CAG		0.552	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		
OR2A7	401427	broad.mit.edu	37	7	143955912	143955912	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:143955912C>A	ENST00000493325.1	-	1	903	c.810G>T	c.(808-810)aaG>aaT	p.K270N	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K270N(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGAGATATTTCTTCTGCTCCT	0.453																																					p.K270N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G810T	7						.						64.0	71.0	69.0					7																	143955912		2203	4297	6500	143586845	SO:0001583	missense	401427	exon1				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.810G>T	7.37:g.143955912C>A	ENSP00000420502:p.Lys270Asn		143586845	NM_001005328	B2RN57|Q6IFP4	Missense_Mutation	SNP	ENST00000493325.1	37	CCDS55177.1	.	.	.	.	.	.	.	.	.	.	c	8.144	0.785933	0.16189	.	.	ENSG00000243896	ENST00000493325	T	0.00063	8.78	3.17	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.02960	-0.455	0.26338	N	0.977417	B	0.20887	0.049	B	0.25759	0.063	T	0.02059	-1.1221	9	0.38643	T	0.18	.	6.3274	0.21251	0.0:0.861:0.0:0.139	.	270	Q96R45	OR2A7_HUMAN	N	270	ENSP00000420502:K270N	ENSP00000420502:K270N	K	-	3	2	OR2A7	143586845	0.002000	0.14202	1.000000	0.80357	0.886000	0.51366	0.004000	0.13106	0.893000	0.36288	0.508000	0.49915	AAG		0.453	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1		
C7orf33	202865	broad.mit.edu	37	7	148311180	148311180	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:148311180C>A	ENST00000307003.2	+	2	612	c.251C>A	c.(250-252)gCt>gAt	p.A84D		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	84								p.A84D(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAATTTATTGCTCCTGTATCA	0.488																																					p.A84D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C251A	7						.						90.0	87.0	88.0					7																	148311180		2203	4300	6503	147942113	SO:0001583	missense	202865	exon2			BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.251C>A	7.37:g.148311180C>A	ENSP00000304071:p.Ala84Asp		147942113	NM_145304		Missense_Mutation	SNP	ENST00000307003.2	37	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	C	0.993	-0.693422	0.03303	.	.	ENSG00000170279	ENST00000307003	.	.	.	1.06	-1.35	0.09114	.	.	.	.	.	T	0.19248	0.0462	N	0.19112	0.55	0.09310	N	1	D	0.58268	0.982	P	0.47102	0.537	T	0.10636	-1.0621	8	0.59425	D	0.04	.	2.3778	0.04346	0.0:0.4116:0.3295:0.259	.	84	Q8WU49	CG033_HUMAN	D	84	.	ENSP00000304071:A84D	A	+	2	0	C7orf33	147942113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.943000	0.01539	-0.529000	0.06358	0.448000	0.29417	GCT		0.488	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304	
GIMAP4	55303	broad.mit.edu	37	7	150269396	150269396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:150269396G>T	ENST00000255945.2	+	3	413	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Nonsense_Mutation_p.E94*	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	80	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.E80*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAGGAAACAGAACTTGTCGT	0.488																																					p.E80X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G238T	7						.						116.0	98.0	104.0					7																	150269396		2203	4300	6503	149900329	SO:0001587	stop_gained	55303	exon3			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.238G>T	7.37:g.150269396G>T	ENSP00000255945:p.Glu80*		149900329	NM_018326		Nonsense_Mutation	SNP	ENST00000255945.2	37	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687531	0.68157	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	.	.	.	4.61	4.61	0.57282	.	0.833888	0.11080	N	0.601927	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	12.8024	0.57594	0.0:0.0:1.0:0.0	.	.	.	.	X	80;94;94	.	ENSP00000255945:E80X	E	+	1	0	GIMAP4	149900329	0.000000	0.05858	0.098000	0.21074	0.047000	0.14425	0.131000	0.15870	2.416000	0.81992	0.655000	0.94253	GAA		0.488	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326	
KCNH2	3757	broad.mit.edu	37	7	150648020	150648020	+	Missense_Mutation	SNP	C	C	T	rs199852343		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:150648020C>T	ENST00000262186.5	-	8	2535	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N	KCNH2_ENST00000330883.4_Missense_Mutation_p.D372N|KCNH2_ENST00000430723.3_Missense_Mutation_p.D712N|KCNH2_ENST00000392968.2_Missense_Mutation_p.D616N	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	712					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.D712N(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCGTTCATGTCGATGCCGTTG	0.637																																					p.D372N	GBM(137;110 1844 13671 20123 45161)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	7						.						85.0	69.0	75.0					7																	150648020		2203	4300	6503	150278953	SO:0001583	missense	3757	exon4			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2134G>A	7.37:g.150648020C>T	ENSP00000262186:p.Asp712Asn		150278953	NM_172057	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	CCDS5910.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.63	3.863415	0.71949	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000430723	D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.87971	2.92	0.50313	D	0.999869	D;D;D;D;D	0.89917	0.98;1.0;0.992;0.99;0.987	P;D;P;P;P	0.81914	0.535;0.995;0.809;0.885;0.842	D	0.99084	1.0838	10	0.87932	D	0	.	14.7478	0.69501	0.0:1.0:0.0:0.0	.	616;712;372;712;372	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	N	372;616;712;712	ENSP00000328531:D372N;ENSP00000376695:D616N;ENSP00000262186:D712N;ENSP00000387657:D712N	ENSP00000262186:D712N	D	-	1	0	KCNH2	150278953	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	7.733000	0.84916	2.126000	0.65437	0.313000	0.20887	GAC		0.637	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
SMARCD3	6604	broad.mit.edu	37	7	150939642	150939642	+	Silent	SNP	C	C	T	rs200087546		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:150939642C>T	ENST00000262188.8	-	5	914	c.504G>A	c.(502-504)gcG>gcA	p.A168A	SMARCD3_ENST00000356800.2_Silent_p.A155A|SMARCD3_ENST00000392811.2_Silent_p.A155A|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'UTR	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	168					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A155A(3)|p.A168A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCAGGCTTCGCAGGGTTAA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19639	0.0		0.0	False		,,,				2504	0.001				p.A155A												.	.	4	Substitution - coding silent(4)	large_intestine(2)|lung(2)	c.G465A	7						.						111.0	119.0	116.0					7																	150939642		2203	4300	6503	150570575	SO:0001819	synonymous_variant	6604	exon6			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.504G>A	7.37:g.150939642C>T			150570575	NM_003078	D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	ENST00000262188.8	37	CCDS34780.1																																																																																				0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
AGMO	392636	broad.mit.edu	37	7	15405188	15405188	+	Missense_Mutation	SNP	C	C	T	rs181773805	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:15405188C>T	ENST00000342526.3	-	12	1383	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	405					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)	p.R405Q(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTGACCAAATCGGTACAGCAT	0.408													C|||	6	0.00119808	0.0	0.0	5008	,	,		15754	0.0		0.001	False		,,,				2504	0.0051				p.R405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1214A	7						.	C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	118.0	106.0	110.0		1214	2.0	0.0	7		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	AGMO	NM_001004320.1	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	405/446	15405188	3,13003	2203	4300	6503	15371713	SO:0001583	missense	392636	exon12				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1214G>A	7.37:g.15405188C>T	ENSP00000341662:p.Arg405Gln		15371713	NM_001004320	A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	CCDS34604.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.273	1.046102	0.19748	4.54E-4	1.16E-4	ENSG00000187546	ENST00000342526;ENST00000418075	T	0.29917	1.55	5.78	2.01	0.26516	.	0.254889	0.36854	N	0.002363	T	0.23611	0.0571	L	0.56769	1.78	0.09310	N	1	B	0.29909	0.261	B	0.15870	0.014	T	0.13495	-1.0507	10	0.28530	T	0.3	-28.6374	8.2944	0.31976	0.0:0.5672:0.0:0.4328	.	405	Q6ZNB7	ALKMO_HUMAN	Q	405;47	ENSP00000341662:R405Q	ENSP00000341662:R405Q	R	-	2	0	AGMO	15371713	0.009000	0.17119	0.031000	0.17742	0.026000	0.11368	-0.136000	0.10405	0.095000	0.17434	0.655000	0.94253	CGA		0.408	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320	
GALNTL5	168391	broad.mit.edu	37	7	151716736	151716736	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:151716736G>T	ENST00000392800.2	+	9	1436	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.Q394H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	394					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.Q394H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTTAGGAGCAGTTTTTTCTTC	0.378																																					p.Q394H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1182T	7						.						85.0	86.0	86.0					7																	151716736		2203	4300	6503	151347669	SO:0001583	missense	168391	exon9			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.1182G>T	7.37:g.151716736G>T	ENSP00000376548:p.Gln394His		151347669	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	4.974	0.180831	0.09443	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.68624	-0.34;-0.34	4.77	-0.584	0.11702	.	0.827620	0.10442	N	0.674228	T	0.45677	0.1354	N	0.25201	0.72	0.23943	N	0.996397	B;P	0.50617	0.085;0.937	B;P	0.46026	0.022;0.501	T	0.35847	-0.9772	10	0.14656	T	0.56	.	0.6826	0.00877	0.1945:0.1646:0.327:0.3139	.	145;394	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	H	394	ENSP00000392582:Q394H;ENSP00000376548:Q394H	ENSP00000376548:Q394H	Q	+	3	2	GALNTL5	151347669	0.997000	0.39634	0.134000	0.22075	0.035000	0.12851	0.148000	0.16224	0.192000	0.20272	-0.266000	0.10368	CAG		0.378	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	
USP42	84132	broad.mit.edu	37	7	6183755	6183755	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:6183755C>T	ENST00000306177.5	+	9	1076	c.918C>T	c.(916-918)atC>atT	p.I306I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	306	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GGTTCACTATCCATAGATCCT	0.333																																					p.I306I												.	.	0			c.C918T	7						.						145.0	131.0	135.0					7																	6183755		1826	4096	5922	6150281	SO:0001819	synonymous_variant	84132	exon9			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.918C>T	7.37:g.6183755C>T			6150281	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																				0.333	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
ICA1	3382	broad.mit.edu	37	7	8167696	8167696	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:8167696G>T	ENST00000402384.3	-	13	1403	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	ICA1_ENST00000422063.2_Silent_p.I408I|ICA1_ENST00000406470.2_Silent_p.I379I|ICA1_ENST00000396675.3_Silent_p.I379I|ICA1_ENST00000401396.1_Silent_p.I367I|ICA1_ENST00000265577.7_Silent_p.I378I			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	379					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.I379I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		AAGCATTGAAGATCTCACTCA	0.552																																					p.I379I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1137A	7						.						147.0	141.0	143.0					7																	8167696		2203	4300	6503	8134221	SO:0001819	synonymous_variant	3382	exon13				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1137C>A	7.37:g.8167696G>T			8134221	NM_004968	A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	CCDS34602.1																																																																																				0.552	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968	
NXPH1	30010	broad.mit.edu	37	7	8791030	8791030	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:8791030T>C	ENST00000405863.1	+	3	1358	c.447T>C	c.(445-447)ttT>ttC	p.F149F	NXPH1_ENST00000602349.1_Silent_p.F32F|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	149	III.					extracellular region (GO:0005576)		p.F149F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATGGGACATTTAGTGTTTATT	0.403																																					p.F149F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T447C	7						.						87.0	86.0	86.0					7																	8791030		1884	4120	6004	8757555	SO:0001819	synonymous_variant	30010	exon3			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.447T>C	7.37:g.8791030T>C			8757555	NM_152745	Q8NB31	Silent	SNP	ENST00000405863.1	37	CCDS47540.1																																																																																				0.403	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
MACC1	346389	broad.mit.edu	37	7	20201469	20201469	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:20201469C>A	ENST00000400331.5	-	4	325	c.17G>T	c.(16-18)aGa>aTa	p.R6I	MACC1_ENST00000471019.1_5'Flank|MACC1_ENST00000589011.1_Missense_Mutation_p.R6I|MACC1_ENST00000332878.4_Missense_Mutation_p.R6I	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	6					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R6I(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAAATGTTTTCTTTCAGTGAT	0.333																																					p.R6I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17T	7						.						116.0	114.0	115.0					7																	20201469		2202	4300	6502	20167994	SO:0001583	missense	346389	exon4				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.17G>T	7.37:g.20201469C>A	ENSP00000383185:p.Arg6Ile		20167994	NM_182762	A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	C	9.657	1.143205	0.21205	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10763	2.84;2.84	5.51	-6.36	0.01969	.	0.855181	0.10253	N	0.696980	T	0.07638	0.0192	L	0.51422	1.61	0.18873	N	0.999987	B	0.11235	0.004	B	0.08055	0.003	T	0.37731	-0.9693	10	0.62326	D	0.03	-0.4765	2.6997	0.05145	0.1478:0.1734:0.1947:0.4841	.	6	Q6ZN28	MACC1_HUMAN	I	6	ENSP00000383185:R6I;ENSP00000328410:R6I	ENSP00000328410:R6I	R	-	2	0	MACC1	20167994	0.000000	0.05858	0.002000	0.10522	0.121000	0.20230	-0.463000	0.06696	-1.339000	0.02230	-0.211000	0.12701	AGA		0.333	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762	
SP4	6671	broad.mit.edu	37	7	21469929	21469929	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:21469929A>G	ENST00000222584.3	+	3	1364	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	382					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G382G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGCCTAATGGAATGCAGAATG	0.478																																					p.G382G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1146G	7						.						90.0	85.0	86.0					7																	21469929		2203	4300	6503	21436454	SO:0001819	synonymous_variant	6671	exon3				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1146A>G	7.37:g.21469929A>G			21436454	NM_003112	O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	CCDS5373.1																																																																																				0.478	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
DNAH11	8701	broad.mit.edu	37	7	21818585	21818585	+	Missense_Mutation	SNP	C	C	A	rs201171938		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:21818585C>A	ENST00000409508.3	+	57	9377	c.9346C>A	c.(9346-9348)Cta>Ata	p.L3116I	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3123I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3123	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.L3123I(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						GGTGGGAGATCTAAAAGCCAG	0.458									Kartagener syndrome																												p.S3123Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9368A	7						.						85.0	82.0	83.0					7																	21818585		1913	4126	6039	21785110	SO:0001583	missense	8701	exon57	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.9346C>A	7.37:g.21818585C>A	ENSP00000475939:p.Leu3116Ile		21785110	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	20.1	3.940964	0.73557	.	.	ENSG00000105877	ENST00000328843	T	0.80824	-1.42	6.03	5.15	0.70609	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.30695	U	0.009069	D	0.89876	0.6842	.	.	.	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.91337	0.5094	9	0.87932	D	0	.	15.5309	0.75960	0.0:0.934:0.0:0.066	.	3123	Q96DT5	DYH11_HUMAN	I	3123	ENSP00000330671:L3123I	ENSP00000330671:L3123I	L	+	1	2	DNAH11	21785110	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	3.691000	0.54720	1.564000	0.49628	-0.137000	0.14449	CTA		0.458	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21934518	21934518	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:21934518C>T	ENST00000409508.3	+	79	12981	c.12950C>T	c.(12949-12951)tCt>tTt	p.S4317F	DNAH11_ENST00000328843.6_Missense_Mutation_p.S4324F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4324					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.S4324F(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						TTGGCATTATCTCCTGCTGTG	0.458									Kartagener syndrome																												p.I4324I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12972T	7						.						130.0	118.0	122.0					7																	21934518		1924	4140	6064	21901043	SO:0001583	missense	8701	exon79	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.12950C>T	7.37:g.21934518C>T	ENSP00000475939:p.Ser4317Phe		21901043	NM_003777	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	16.52	3.146625	0.57044	.	.	ENSG00000105877	ENST00000328843	T	0.10573	2.86	5.62	4.74	0.60224	Dynein heavy chain (1);	0.217682	0.49916	D	0.000140	T	0.29850	0.0746	.	.	.	0.58432	D	0.999991	D	0.69078	0.997	D	0.65233	0.933	T	0.03212	-1.1060	9	0.87932	D	0	.	11.8648	0.52486	0.0:0.8092:0.1233:0.0676	.	4324	Q96DT5	DYH11_HUMAN	F	4324	ENSP00000330671:S4324F	ENSP00000330671:S4324F	S	+	2	0	DNAH11	21901043	0.999000	0.42202	0.626000	0.29213	0.363000	0.29612	4.934000	0.63491	1.373000	0.46208	0.563000	0.77884	TCT		0.458	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
STK31	56164	broad.mit.edu	37	7	23871798	23871798	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:23871798G>C	ENST00000355870.3	+	24	2992	c.2873G>C	c.(2872-2874)aGa>aCa	p.R958T	STK31_ENST00000433467.2_Missense_Mutation_p.R935T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.R935T|STK31_ENST00000428484.1_Missense_Mutation_p.R935T	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	958	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.R958T(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						ATATGTTATAGAAGTTCAATG	0.363																																					p.R935T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2804C	7						.						119.0	116.0	117.0					7																	23871798		2203	4300	6503	23838323	SO:0001583	missense	56164	exon24			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.2873G>C	7.37:g.23871798G>C	ENSP00000348132:p.Arg958Thr		23838323	NM_001122833	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797173	0.31777	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.73681	-0.77;1.24;-0.77;-0.77	4.87	2.0	0.26442	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095518	0.45867	D	0.000323	T	0.61999	0.2392	N	0.13098	0.295	0.22366	N	0.999165	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.52343	0.696;0.696;0.696	T	0.55003	-0.8208	10	0.59425	D	0.04	-3.6663	4.6919	0.12785	0.267:0.1591:0.5739:0.0	.	935;958;958	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	T	958;935;935;935	ENSP00000348132:R958T;ENSP00000411852:R935T;ENSP00000346660:R935T;ENSP00000406146:R935T	ENSP00000346660:R935T	R	+	2	0	STK31	23838323	1.000000	0.71417	0.196000	0.23383	0.250000	0.25880	3.139000	0.50577	0.177000	0.19895	0.491000	0.48974	AGA		0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
MPP6	51678	broad.mit.edu	37	7	24690152	24690152	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:24690152C>T	ENST00000222644.5	+	5	722	c.472C>T	c.(472-474)Ctc>Ttc	p.L158F	MPP6_ENST00000396475.2_Missense_Mutation_p.L158F|MPP6_ENST00000409761.1_Missense_Mutation_p.L46F			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.L158F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGCCCGAATCCTCCATGGGGG	0.358																																					p.L158F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	7						.						87.0	91.0	89.0					7																	24690152		2203	4300	6503	24656677	SO:0001583	missense	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.472C>T	7.37:g.24690152C>T	ENSP00000222644:p.Leu158Phe		24656677	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103079	0.76983	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	6.06	6.06	0.98353	PDZ/DHR/GLGF (4);	0.000000	0.51477	D	0.000099	T	0.56702	0.2003	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.55218	-0.8175	10	0.87932	D	0	.	18.8014	0.92018	0.0:1.0:0.0:0.0	.	158	Q9NZW5	MPP6_HUMAN	F	158;158;46;158;158	ENSP00000395859:L158F;ENSP00000222644:L158F;ENSP00000386262:L46F;ENSP00000379737:L158F;ENSP00000391020:L158F	ENSP00000222644:L158F	L	+	1	0	MPP6	24656677	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.488000	0.53229	2.882000	0.98803	0.655000	0.94253	CTC		0.358	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
CBX3	11335	broad.mit.edu	37	7	26246048	26246048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:26246048G>T	ENST00000337620.4	+	3	513	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	CBX3_ENST00000396386.2_Nonsense_Mutation_p.E29*|CBX3_ENST00000409747.1_Nonsense_Mutation_p.E29*|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	29					chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AGAGCCTGAAGAATTTGTCGT	0.338																																					p.E29X												.	.	0			c.G85T	7						.						119.0	122.0	121.0					7																	26246048		2203	4300	6503	26212573	SO:0001587	stop_gained	11335	exon3			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.85G>T	7.37:g.26246048G>T	ENSP00000336687:p.Glu29*		26212573	NM_007276	Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Nonsense_Mutation	SNP	ENST00000337620.4	37	CCDS5398.1	.	.	.	.	.	.	.	.	.	.	G	46	12.212933	0.99647	.	.	ENSG00000122565	ENST00000337620;ENST00000396386;ENST00000456948;ENST00000409747	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000336687:E29X	E	+	1	0	CBX3	26212573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.843000	0.99491	2.880000	0.98712	0.655000	0.94253	GAA		0.338	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214117.1	NM_007276	
GGCT	79017	broad.mit.edu	37	7	30540294	30540294	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:30540294A>C	ENST00000275428.4	-	2	279	c.145T>G	c.(145-147)Ttt>Gtt	p.F49V	GGCT_ENST00000005374.6_Missense_Mutation_p.F49V|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Missense_Mutation_p.F49V|GGCT_ENST00000598361.1_De_novo_Start_OutOfFrame|GGCT_ENST00000409436.1_Missense_Mutation_p.F49V	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	49					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.F49V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						TCAAGCTTAAAATCCTACAAA	0.388																																					p.F49V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T145G	7						.						75.0	69.0	71.0					7																	30540294		2203	4300	6503	30506819	SO:0001583	missense	79017	exon2			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.145T>G	7.37:g.30540294A>C	ENSP00000275428:p.Phe49Val		30506819	NM_001199816	B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490757	0.84962	.	.	ENSG00000006625	ENST00000275428;ENST00000005374;ENST00000409390;ENST00000409436	.	.	.	6.16	6.16	0.99307	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.214361	0.50627	D	0.000120	T	0.73783	0.3631	M	0.83118	2.625	0.80722	D	1	P;P	0.43352	0.804;0.785	B;P	0.47981	0.311;0.563	T	0.77838	-0.2439	9	0.72032	D	0.01	-6.6107	15.9872	0.80168	1.0:0.0:0.0:0.0	.	49;49	O75223-2;O75223	.;GGCT_HUMAN	V	49	.	ENSP00000005374:F49V	F	-	1	0	GGCT	30506819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.410000	0.90225	2.367000	0.80283	0.528000	0.53228	TTT		0.388	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051	
INMT	11185	broad.mit.edu	37	7	30795039	30795039	+	Splice_Site	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:30795039G>A	ENST00000013222.5	+	3	380	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Splice_Site_p.G121S|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	122					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)	p.G122S(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TCTCTGCAGCGGCCGATGGGA	0.627																																					p.G122S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	7						.						15.0	15.0	15.0					7																	30795039		2202	4297	6499	30761564	SO:0001630	splice_region_variant	11185	exon3				CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.363-1G>A	7.37:g.30795039G>A			30761564	NM_006774	B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Missense_Mutation	SNP	ENST00000013222.5	37	CCDS5430.1	.	.	.	.	.	.	.	.	.	.	G	2.871	-0.234028	0.05983	.	.	ENSG00000241644	ENST00000013222;ENST00000409539	T;T	0.03094	4.05;4.05	3.05	-3.96	0.04106	.	1.289490	0.05278	N	0.518766	T	0.01421	0.0046	N	0.01515	-0.825	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49214	-0.8963	10	0.09338	T	0.73	-3.918	9.4879	0.38942	0.7654:0.0:0.2346:0.0	.	121;122	B8ZZ69;O95050	.;INMT_HUMAN	S	122;121	ENSP00000013222:G122S;ENSP00000386961:G121S	ENSP00000013222:G122S	G	+	1	0	INMT	30761564	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.024000	0.12435	-1.054000	0.03214	-0.367000	0.07326	GGC		0.627	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774	Missense_Mutation
CCDC129	223075	broad.mit.edu	37	7	31682353	31682353	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:31682353G>T	ENST00000407970.3	+	11	1407	c.1369G>T	c.(1369-1371)Gat>Tat	p.D457Y	CCDC129_ENST00000451887.2_Missense_Mutation_p.D483Y|CCDC129_ENST00000319386.3_Missense_Mutation_p.D309Y|CCDC129_ENST00000409210.1_Missense_Mutation_p.D365Y	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	457								p.D309Y(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAGCCAAGAGATCAGAGCCA	0.512																																					p.D457Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1369T	7						.						74.0	69.0	71.0					7																	31682353		2203	4300	6503	31648878	SO:0001583	missense	223075	exon11			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1369G>T	7.37:g.31682353G>T	ENSP00000384416:p.Asp457Tyr		31648878	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620239	0.46736	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.25250	1.9;2.06;2.06;1.81	5.85	1.68	0.24146	.	0.667388	0.13877	N	0.356624	T	0.37183	0.0994	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.71674	0.995;0.987;0.987;0.998	P;P;P;P	0.62560	0.834;0.875;0.875;0.904	T	0.08806	-1.0704	10	0.54805	T	0.06	-3.3093	5.0335	0.14423	0.1687:0.0:0.5974:0.2339	.	483;467;457;309	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	Y	309;457;483;467;365	ENSP00000313062:D309Y;ENSP00000384416:D457Y;ENSP00000395835:D483Y;ENSP00000387214:D365Y	ENSP00000313062:D309Y	D	+	1	0	CCDC129	31648878	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.272000	0.18644	0.828000	0.34709	0.585000	0.79938	GAT		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
CCDC129	223075	broad.mit.edu	37	7	31683325	31683325	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:31683325A>G	ENST00000407970.3	+	11	2379	c.2341A>G	c.(2341-2343)Aaa>Gaa	p.K781E	CCDC129_ENST00000451887.2_Missense_Mutation_p.K807E|CCDC129_ENST00000319386.3_Missense_Mutation_p.K633E|CCDC129_ENST00000409210.1_Missense_Mutation_p.K689E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	781								p.K633E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCCCTCACCAAATCCGTCTC	0.512																																					p.K781E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2341G	7						.						93.0	79.0	84.0					7																	31683325		2203	4300	6503	31649850	SO:0001583	missense	223075	exon11			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2341A>G	7.37:g.31683325A>G	ENSP00000384416:p.Lys781Glu		31649850	NM_194300	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919764	0.73098	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.62	4.42	0.53409	.	0.468479	0.19053	N	0.124000	T	0.49609	0.1567	M	0.69823	2.125	0.25235	N	0.989792	D;D;D;D	0.61697	0.972;0.99;0.99;0.988	P;P;P;P	0.55011	0.673;0.766;0.766;0.761	T	0.45818	-0.9235	10	0.72032	D	0.01	-18.3016	10.2568	0.43403	0.8223:0.1777:0.0:0.0	.	807;791;781;633	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	633;781;807;791;689	ENSP00000313062:K633E;ENSP00000384416:K781E;ENSP00000395835:K807E;ENSP00000387214:K689E	ENSP00000313062:K633E	K	+	1	0	CCDC129	31649850	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	2.959000	0.49153	2.141000	0.66446	0.533000	0.62120	AAA		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
HERPUD2	64224	broad.mit.edu	37	7	35678031	35678031	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:35678031C>A	ENST00000396081.1	-	5	1350	c.546G>T	c.(544-546)gtG>gtT	p.V182V	HERPUD2_ENST00000311350.3_Silent_p.V182V|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	182					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.V182V(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ACGCGGGATACACTGGGAATC	0.403																																					p.V182V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G546T	7						.						78.0	73.0	75.0					7																	35678031		2203	4300	6503	35644556	SO:0001819	synonymous_variant	64224	exon6			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.546G>T	7.37:g.35678031C>A			35644556	NM_022373	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.403	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
NME8	51314	broad.mit.edu	37	7	37916591	37916591	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:37916591C>A	ENST00000199447.4	+	12	1348	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	NME8_ENST00000440017.1_Missense_Mutation_p.L326I|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	326	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.L326I(1)									TCGACCAAATCTCTTTCATGA	0.308																																					p.L326I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976A	7						.						47.0	47.0	47.0					7																	37916591		2203	4300	6503	37883116	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.976C>A	7.37:g.37916591C>A	ENSP00000199447:p.Leu326Ile		37883116	NM_016616	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	5.702	0.314031	0.10789	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.54479	0.57;0.57	3.67	1.4	0.22301	.	0.632758	0.13350	N	0.394517	T	0.33118	0.0852	L	0.27053	0.805	0.09310	N	1	B	0.25048	0.117	B	0.33392	0.163	T	0.34179	-0.9839	10	0.02654	T	1	-1.7303	5.7761	0.18279	0.3354:0.4745:0.1901:0.0	.	326	Q8N427	TXND3_HUMAN	I	326	ENSP00000199447:L326I;ENSP00000397063:L326I	ENSP00000199447:L326I	L	+	1	0	TXNDC3	37883116	0.011000	0.17503	0.029000	0.17559	0.951000	0.60555	0.226000	0.17776	0.306000	0.22856	0.591000	0.81541	CTC		0.308	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
SFRP4	6424	broad.mit.edu	37	7	37951817	37951817	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:37951817C>T	ENST00000436072.2	-	4	1072	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R232Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACTTGAGTTCGAGGGATGGG	0.478																																					p.R232Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G695A	7						.						237.0	215.0	222.0					7																	37951817		2203	4300	6503	37918342	SO:0001583	missense	6424	exon4			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.695G>A	7.37:g.37951817C>T	ENSP00000410715:p.Arg232Gln		37918342	NM_003014	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465911	0.84425	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.22336	1.96;1.96	5.9	5.02	0.67125	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.295141	0.33834	N	0.004504	T	0.18087	0.0434	L	0.28400	0.85	0.29939	N	0.821191	B	0.33940	0.433	B	0.34722	0.188	T	0.07751	-1.0756	10	0.51188	T	0.08	.	13.8802	0.63678	0.0:0.9257:0.0:0.0743	.	232	Q6FHJ7	SFRP4_HUMAN	Q	232;229;98	ENSP00000410715:R232Q;ENSP00000402262:R98Q	ENSP00000410715:R232Q	R	-	2	0	SFRP4	37918342	0.918000	0.31147	0.999000	0.59377	0.997000	0.91878	1.773000	0.38563	1.483000	0.48342	0.650000	0.86243	CGA		0.478	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
CDK13	8621	broad.mit.edu	37	7	40133980	40133980	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:40133980G>T	ENST00000181839.4	+	14	4545	c.3940G>T	c.(3940-3942)Gac>Tac	p.D1314Y	CDK13_ENST00000340829.5_Missense_Mutation_p.D1254Y	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1314					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.D1314Y(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						GCCCCAGGATGACCCCAAAAG	0.498																																					p.D1314Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3940T	7						.						121.0	118.0	119.0					7																	40133980		2203	4300	6503	40100505	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.3940G>T	7.37:g.40133980G>T	ENSP00000181839:p.Asp1314Tyr		40100505	NM_003718	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983267	0.53827	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.46451	0.87;0.87	5.3	5.3	0.74995	.	.	.	.	.	T	0.47728	0.1461	L	0.40543	1.245	0.42490	D	0.992894	D;D	0.60160	0.987;0.978	P;P	0.55303	0.773;0.598	T	0.35400	-0.9790	8	.	.	.	-1.9966	14.456	0.67416	0.0:0.0:1.0:0.0	.	1254;1314	Q14004-2;Q14004	.;CDK13_HUMAN	Y	1314;1254	ENSP00000181839:D1314Y;ENSP00000340557:D1254Y	.	D	+	1	0	CDK13	40100505	1.000000	0.71417	0.829000	0.32907	0.982000	0.71751	5.851000	0.69481	2.487000	0.83934	0.655000	0.94253	GAC		0.498	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
MPLKIP	136647	broad.mit.edu	37	7	40172806	40172806	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:40172806C>A	ENST00000306984.6	-	2	483	c.392G>T	c.(391-393)aGa>aTa	p.R131I	C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000309930.5_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	131					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R131I(1)									ATTAGACATTCTTTTTTCTCT	0.363																																					p.R131I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G392T	7						.						122.0	127.0	125.0					7																	40172806		2203	4300	6503	40139331	SO:0001583	missense	136647	exon2			AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.392G>T	7.37:g.40172806C>A	ENSP00000304553:p.Arg131Ile		40139331	NM_138701		Missense_Mutation	SNP	ENST00000306984.6	37	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238670	0.79800	.	.	ENSG00000168303	ENST00000306984	T	0.78707	-1.2	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	L	0.51422	1.61	0.80722	D	1	P	0.48016	0.904	B	0.43082	0.407	T	0.79926	-0.1597	10	0.87932	D	0	-4.2495	16.5729	0.84629	0.0:0.8696:0.1304:0.0	.	131	Q8TAP9	TTDN1_HUMAN	I	131	ENSP00000304553:R131I	ENSP00000304553:R131I	R	-	2	0	C7orf11	40139331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.841000	0.69409	1.556000	0.49512	0.591000	0.81541	AGA		0.363	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701	
INHBA	3624	broad.mit.edu	37	7	41730112	41730112	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:41730112C>A	ENST00000242208.4	-	3	663	c.417G>T	c.(415-417)gaG>gaT	p.E139D	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E139D	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	139					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.E139D(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTTGGAAATCTCGAAGTGCA	0.488										TSP Lung(11;0.080)																											p.E139D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	7						.						51.0	47.0	49.0					7																	41730112		2203	4300	6503	41696637	SO:0001583	missense	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.417G>T	7.37:g.41730112C>A	ENSP00000242208:p.Glu139Asp		41696637	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	14.08	2.429073	0.43122	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.60171	0.21;0.21	6.06	4.24	0.50183	Transforming growth factor-beta, N-terminal (1);	0.163250	0.53938	D	0.000050	T	0.39384	0.1076	N	0.24115	0.695	0.44214	D	0.997043	B	0.12013	0.005	B	0.16289	0.015	T	0.12967	-1.0527	10	0.20046	T	0.44	-29.3423	9.0661	0.36465	0.0:0.7238:0.0:0.2762	.	139	P08476	INHBA_HUMAN	D	139	ENSP00000242208:E139D;ENSP00000397197:E139D	ENSP00000242208:E139D	E	-	3	2	INHBA	41696637	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.323000	0.33701	0.875000	0.35847	0.655000	0.94253	GAG		0.488	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GLI3	2737	broad.mit.edu	37	7	42004342	42004342	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:42004342G>T	ENST00000395925.3	-	15	4413	c.4329C>A	c.(4327-4329)ttC>ttA	p.F1443L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1443					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.F1443L(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						TTTGGTCATAGAACTGACCAG	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.F1443L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4329A	7						.						62.0	63.0	63.0					7																	42004342		2203	4300	6503	41970867	SO:0001583	missense	2737	exon15	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.4329C>A	7.37:g.42004342G>T	ENSP00000379258:p.Phe1443Leu		41970867	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	6.227	0.410087	0.11812	.	.	ENSG00000106571	ENST00000395925	T	0.12361	2.69	5.62	2.59	0.31030	.	0.399652	0.30501	N	0.009499	T	0.06600	0.0169	N	0.25890	0.77	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.23833	-1.0177	10	0.06757	T	0.87	.	4.1413	0.10194	0.1427:0.2173:0.5315:0.1085	.	1443	P10071	GLI3_HUMAN	L	1443	ENSP00000379258:F1443L	ENSP00000379258:F1443L	F	-	3	2	GLI3	41970867	0.855000	0.29742	0.999000	0.59377	0.994000	0.84299	1.434000	0.34958	0.696000	0.31696	0.655000	0.94253	TTC		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
GLI3	2737	broad.mit.edu	37	7	42007393	42007393	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:42007393G>A	ENST00000395925.3	-	14	2316	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	744					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.I744I(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						GGGTTTCATCGATGGCACTGA	0.542									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.I744I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2232T	7						.						215.0	196.0	203.0					7																	42007393		2203	4300	6503	41973918	SO:0001819	synonymous_variant	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.2232C>T	7.37:g.42007393G>A			41973918	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.542	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
HECW1	23072	broad.mit.edu	37	7	43532709	43532709	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:43532709C>A	ENST00000395891.2	+	19	3972	c.3367C>A	c.(3367-3369)Ctt>Att	p.L1123I	HECW1_ENST00000453890.1_Missense_Mutation_p.L1089I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1102I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTGGCATTTCTTCGCCAGCC	0.468																																					p.L1123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3367A	7						.						76.0	72.0	73.0					7																	43532709		1931	4149	6080	43499234	SO:0001583	missense	23072	exon19			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3367C>A	7.37:g.43532709C>A	ENSP00000379228:p.Leu1123Ile		43499234	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588957	0.86851	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84873	-1.91;-1.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	M	0.66297	2.02	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.80764	0.994;0.78	D	0.91724	0.5391	10	0.54805	T	0.06	.	18.624	0.91331	0.0:1.0:0.0:0.0	.	1089;1123	B4DH42;Q76N89	.;HECW1_HUMAN	I	1123;1089;1123	ENSP00000379228:L1123I;ENSP00000407774:L1089I	ENSP00000265522:L1123I	L	+	1	0	HECW1	43499234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.608000	0.61141	2.499000	0.84300	0.655000	0.94253	CTT		0.468	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
PKD1L1	168507	broad.mit.edu	37	7	47835736	47835736	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:47835736G>A	ENST00000289672.2	-	55	8256	c.8206C>T	c.(8206-8208)Ctc>Ttc	p.L2736F	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2736					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.L2736F(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						AAAGTCATGAGAAAACCTCTC	0.328																																					p.L2736F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8206T	7						.						49.0	52.0	51.0					7																	47835736		2203	4298	6501	47802261	SO:0001583	missense	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.8206C>T	7.37:g.47835736G>A	ENSP00000289672:p.Leu2736Phe		47802261	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	0.066	-1.212487	0.01555	.	.	ENSG00000158683	ENST00000289672	T	0.33216	1.42	5.46	0.563	0.17296	.	2.633870	0.01691	N	0.026669	T	0.19248	0.0462	N	0.11560	0.145	0.09310	N	0.999998	B	0.22080	0.064	B	0.21151	0.033	T	0.20605	-1.0270	10	0.33940	T	0.23	-6.5686	7.8577	0.29491	0.4575:0.0:0.5425:0.0	.	2736	Q8TDX9	PK1L1_HUMAN	F	2736	ENSP00000289672:L2736F	ENSP00000289672:L2736F	L	-	1	0	PKD1L1	47802261	0.044000	0.20184	0.001000	0.08648	0.084000	0.17831	-0.053000	0.11846	-0.188000	0.10499	0.655000	0.94253	CTC		0.328	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
SUN3	256979	broad.mit.edu	37	7	48068523	48068523	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:48068523T>C	ENST00000297325.4	-	1	172	c.13A>G	c.(13-15)Aca>Gca	p.T5A	SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.T5A	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	5						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.T5A(1)|p.T5S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGCCTTTGTTTTTCCACTC	0.433																																					p.T5A												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A13G	7						.						121.0	114.0	117.0					7																	48068523		2203	4300	6503	48035048	SO:0001583	missense	256979	exon2			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.13A>G	7.37:g.48068523T>C	ENSP00000297325:p.Thr5Ala		48035048	NM_152782	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	CCDS34636.1	.	.	.	.	.	.	.	.	.	.	T	3.477	-0.106785	0.06924	.	.	ENSG00000164744	ENST00000297325;ENST00000395572	T;T	0.21543	2.0;2.0	4.05	-1.79	0.07932	.	1.288690	0.05484	N	0.555320	T	0.09949	0.0244	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.36553	-0.9743	10	0.15066	T	0.55	-10.0057	8.0055	0.30323	0.0:0.3117:0.1936:0.4948	.	5	Q8TAQ9	SUN3_HUMAN	A	5	ENSP00000297325:T5A;ENSP00000378939:T5A	ENSP00000297325:T5A	T	-	1	0	SUN3	48035048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	-0.724000	0.04908	-1.937000	0.00501	ACA		0.433	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
ABCA13	154664	broad.mit.edu	37	7	48315144	48315144	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:48315144A>C	ENST00000435803.1	+	17	5905	c.5881A>C	c.(5881-5883)Aat>Cat	p.N1961H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1961					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.N1906H(1)|p.N1961H(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						AAAACTTAAAAATGTCAACTT	0.333																																					p.K1906N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5718C	7						.						51.0	49.0	50.0					7																	48315144		1814	4072	5886	48285690	SO:0001583	missense	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.5881A>C	7.37:g.48315144A>C	ENSP00000411096:p.Asn1961His		48285690	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904135	0.33628	.	.	ENSG00000179869	ENST00000435803	T	0.16324	2.35	5.49	-1.34	0.09143	.	1.364740	0.04922	N	0.455152	T	0.21387	0.0515	L	0.60455	1.87	0.09310	N	1	P	0.51933	0.949	P	0.49752	0.621	T	0.17319	-1.0373	9	.	.	.	.	1.0324	0.01541	0.3851:0.2611:0.2191:0.1346	.	1961	Q86UQ4	ABCAD_HUMAN	H	1961	ENSP00000411096:N1961H	.	N	+	1	0	ABCA13	48285690	0.043000	0.20138	0.002000	0.10522	0.888000	0.51559	0.545000	0.23268	-0.213000	0.10094	0.477000	0.44152	AAT		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
FIGNL1	63979	broad.mit.edu	37	7	50513125	50513125	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:50513125G>A	ENST00000419119.1	-	2	3414	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	FIGNL1_ENST00000395556.2_Missense_Mutation_p.R621C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R621C|FIGNL1_ENST00000433017.1_Missense_Mutation_p.R621C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	621					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.R621C(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)				TGTAAACTGCGAATAGGACCA	0.438																																					p.R621C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1861T	7						.						93.0	87.0	89.0					7																	50513125		2203	4300	6503	50480619	SO:0001583	missense	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.1861C>T	7.37:g.50513125G>A	ENSP00000410811:p.Arg621Cys		50480619	NM_001042762	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819937	0.90873	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98370	1.0553	10	0.87932	D	0	-6.7561	19.8676	0.96824	0.0:0.0:1.0:0.0	.	621	Q6PIW4	FIGL1_HUMAN	C	621	ENSP00000349356:R621C;ENSP00000378924:R621C;ENSP00000399997:R621C;ENSP00000410811:R621C	ENSP00000349356:R621C	R	-	1	0	FIGNL1	50480619	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.438	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
CCT6A	908	broad.mit.edu	37	7	56130750	56130750	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:56130750G>A	ENST00000275603.4	+	14	1787	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	SUMF2_ENST00000275607.9_5'Flank|SUMF2_ENST00000395435.2_5'Flank|SUMF2_ENST00000342190.6_5'Flank|SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000413756.1_5'Flank|SUMF2_ENST00000437307.2_5'Flank|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Missense_Mutation_p.R492Q|CCT6A_ENST00000335503.3_Missense_Mutation_p.R478Q|SUMF2_ENST00000434526.2_5'Flank|SUMF2_ENST00000395436.2_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	523					'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)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.R523Q(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGATCATGCGAGCTGGAATG	0.428																																					p.R478Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1433A	7						.						148.0	134.0	139.0					7																	56130750		2203	4300	6503	56098244	SO:0001583	missense	908	exon13			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1568G>A	7.37:g.56130750G>A	ENSP00000275603:p.Arg523Gln		56098244	NM_001009186	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584228	0.86748	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78595	-1.19;-1.19;-1.19	4.73	4.73	0.59995	.	0.060198	0.64402	N	0.000005	T	0.80105	0.4562	M	0.66378	2.025	0.80722	D	1	D;B;P	0.56035	0.974;0.382;0.929	P;P;P	0.47118	0.538;0.473;0.538	T	0.82301	-0.0525	10	0.48119	T	0.1	-5.6829	16.7024	0.85357	0.0:0.0:1.0:0.0	.	492;478;523	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	Q	523;478;492;381	ENSP00000275603:R523Q;ENSP00000352019:R478Q;ENSP00000438488:R492Q	ENSP00000275603:R523Q	R	+	2	0	CCT6A	56098244	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.191000	0.94940	2.180000	0.69256	0.313000	0.20887	CGA		0.428	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
ZNF479	90827	broad.mit.edu	37	7	57188594	57188594	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:57188594T>G	ENST00000331162.4	-	5	798	c.528A>C	c.(526-528)aaA>aaC	p.K176N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	176					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.K176N(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)			TATATCTTGTTTTATCTCTAT	0.294																																					p.K176N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A528C	7						.						53.0	50.0	51.0					7																	57188594		1885	4123	6008	57192536	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.528A>C	7.37:g.57188594T>G	ENSP00000333776:p.Lys176Asn		57192536	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	1.105	-0.660045	0.03454	.	.	ENSG00000185177	ENST00000331162	T	0.29142	1.58	0.946	-1.89	0.07689	.	.	.	.	.	T	0.23727	0.0574	L	0.60067	1.865	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.24368	-1.0162	9	0.46703	T	0.11	.	1.8771	0.03220	0.4335:0.2786:0.0:0.2879	.	176	Q96JC4	ZN479_HUMAN	N	176	ENSP00000333776:K176N	ENSP00000333776:K176N	K	-	3	2	ZNF479	57192536	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.458000	0.02372	-2.055000	0.00899	-2.146000	0.00336	AAA		0.294	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF107	51427	broad.mit.edu	37	7	64167008	64167008	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:64167008G>T	ENST00000395391.1	+	4	1701	c.326G>T	c.(325-327)tGt>tTt	p.C109F	ZNF107_ENST00000423627.1_Missense_Mutation_p.C109F|ZNF107_ENST00000344930.3_Missense_Mutation_p.C109F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	109					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.C109F(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGTAAAGAATGTAGCAAATCA	0.303																																					p.C109F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G326T	7						.						32.0	31.0	31.0					7																	64167008		2201	4300	6501	63804443	SO:0001583	missense	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.326G>T	7.37:g.64167008G>T	ENSP00000378789:p.Cys109Phe		63804443	NM_001013746		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	14.21	2.467433	0.43839	.	.	ENSG00000196247	ENST00000541526;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.59364	0.27;0.27;0.27	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68384	0.2995	M	0.93241	3.395	0.39686	D	0.970976	P	0.39250	0.665	P	0.45428	0.48	T	0.69495	-0.5130	8	.	.	.	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	109	Q9UII5	ZN107_HUMAN	F	109	ENSP00000343443:C109F;ENSP00000400037:C109F;ENSP00000378789:C109F	.	C	+	2	0	ZNF107	63804443	1.000000	0.71417	0.154000	0.22540	0.153000	0.21895	3.372000	0.52387	0.300000	0.22699	0.305000	0.20034	TGT		0.303	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF92	168374	broad.mit.edu	37	7	64864193	64864193	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:64864193G>T	ENST00000328747.7	+	4	1365	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	ZNF92_ENST00000431504.1_Missense_Mutation_p.R313I|ZNF92_ENST00000357512.2_Missense_Mutation_p.R357I|ZNF92_ENST00000450302.2_Missense_Mutation_p.R320I	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	389					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.R389I(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AAACATAAAAGAATTCATACG	0.363																																					p.R389I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1166T	7						.						36.0	41.0	39.0					7																	64864193		2196	4294	6490	64501628	SO:0001583	missense	168374	exon4			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.1166G>T	7.37:g.64864193G>T	ENSP00000332595:p.Arg389Ile		64501628	NM_152626	A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074165	0.08485	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.02446	4.29;4.29;4.29;4.29	0.418	-0.581	0.11713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	M	0.69823	2.125	0.43242	D	0.995156	B;B	0.11235	0.001;0.004	B;B	0.12837	0.002;0.008	T	0.29274	-1.0017	9	0.42905	T	0.14	.	4.6192	0.12442	0.3005:0.0:0.6995:0.0	.	357;389	Q03936-3;Q03936	.;ZNF92_HUMAN	I	389;313;357;320	ENSP00000332595:R389I;ENSP00000400495:R313I;ENSP00000350113:R357I;ENSP00000396126:R320I	ENSP00000332595:R389I	R	+	2	0	ZNF92	64501628	0.000000	0.05858	0.220000	0.23810	0.211000	0.24417	-0.064000	0.11636	-0.396000	0.07703	-0.384000	0.06662	AGA		0.363	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626	
RABGEF1	27342	broad.mit.edu	37	7	66273978	66273978	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:66273978G>T	ENST00000284957.5	+	9	1260	c.1183G>T	c.(1183-1185)Gaa>Taa	p.E395*	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Nonsense_Mutation_p.E395*|RABGEF1_ENST00000437078.2_Nonsense_Mutation_p.E409*|GTF2IRD1P1_ENST00000457166.1_RNA|RABGEF1_ENST00000439720.2_Nonsense_Mutation_p.E408*|KCTD7_ENST00000510829.2_Nonsense_Mutation_p.E395*|KCTD7_ENST00000451741.2_Nonsense_Mutation_p.E395*|KCTD7_ENST00000380828.2_Nonsense_Mutation_p.E435*			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	612					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.E395*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGGAAGCAAGAAGCTGAGAG	0.458																																					p.E395X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1183T	7						.						92.0	86.0	88.0					7																	66273978		2203	4300	6503	65911413	SO:0001587	stop_gained	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.1183G>T	7.37:g.66273978G>T	ENSP00000284957:p.Glu395*		65911413	NM_014504	B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Nonsense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199947	0.97371	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.83	5.83	0.93111	.	0.268542	0.43260	D	0.000590	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-18.7009	19.551	0.95319	0.0:0.0:1.0:0.0	.	.	.	.	X	479;435;395;395;311;395;395;408;409	.	ENSP00000370207:E479X	E	+	1	0	RABGEF1;KCTD7	65911413	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	5.095000	0.64529	2.937000	0.99478	0.650000	0.86243	GAA		0.458	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
AUTS2	26053	broad.mit.edu	37	7	70231120	70231120	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:70231120G>A	ENST00000342771.4	+	9	1810	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	AUTS2_ENST00000406775.2_Missense_Mutation_p.E497K	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	497								p.E497K(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTTGCGACAGGAACTGAACAC	0.577																																					p.E497K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489A	7						.						141.0	137.0	138.0					7																	70231120		2203	4300	6503	69869056	SO:0001583	missense	26053	exon9			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1489G>A	7.37:g.70231120G>A	ENSP00000344087:p.Glu497Lys		69869056	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	35	5.552512	0.96501	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.54279	0.58;0.58	5.77	5.77	0.91146	.	0.093567	0.64402	D	0.000001	T	0.71492	0.3346	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.68307	-0.5443	9	.	.	.	-14.5446	19.9983	0.97395	0.0:0.0:1.0:0.0	.	497;497	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	K	497	ENSP00000385263:E497K;ENSP00000344087:E497K	.	E	+	1	0	AUTS2	69869056	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.159000	0.94728	2.724000	0.93272	0.561000	0.74099	GAA		0.577	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
BCL7B	9275	broad.mit.edu	37	7	72957958	72957958	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:72957958G>A	ENST00000223368.2	-	3	608	c.185C>T	c.(184-186)tCg>tTg	p.S62L	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Missense_Mutation_p.S62L	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	62							actin binding (GO:0003779)	p.S62L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAACTGTTCGATTTTGACTT	0.468																																					p.S62L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C185T	7						.						158.0	158.0	158.0					7																	72957958		2203	4300	6503	72595894	SO:0001583	missense	9275	exon3			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.185C>T	7.37:g.72957958G>A	ENSP00000223368:p.Ser62Leu		72595894	NM_001707	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	ENST00000223368.2	37	CCDS5550.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205956	0.58234	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.45276	0.9	5.38	5.38	0.77491	.	0.293955	0.30979	N	0.008493	T	0.48295	0.1492	L	0.27053	0.805	0.32609	N	0.524901	D;D	0.76494	0.999;0.96	D;B	0.72625	0.978;0.238	T	0.52946	-0.8507	10	0.33141	T	0.24	.	12.2259	0.54459	0.0:0.1707:0.8293:0.0	.	62;62	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	L	62	ENSP00000223368:S62L	ENSP00000223368:S62L	S	-	2	0	BCL7B	72595894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.812000	0.55628	2.793000	0.96121	0.655000	0.94253	TCG		0.468	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252194.1	NM_001707	
CCDC146	57639	broad.mit.edu	37	7	76891505	76891505	+	Missense_Mutation	SNP	C	C	T	rs148455218		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:76891505C>T	ENST00000285871.4	+	9	1181	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	CCDC146_ENST00000431197.1_Missense_Mutation_p.R98C|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	352								p.R352C(1)|p.R352S(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAACTTTCTCGTAAGCAAAG	0.403																																					p.R352C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1054T	7						.	C	CYS/ARG	0,4406		0,0,2203	100.0	100.0	100.0		1054	5.8	1.0	7	dbSNP_134	100	3,8597	3.0+/-9.4	0,3,4297	no	missense	CCDC146	NM_020879.2	180	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	352/956	76891505	3,13003	2203	4300	6503	76729441	SO:0001583	missense	57639	exon9			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1054C>T	7.37:g.76891505C>T	ENSP00000285871:p.Arg352Cys		76729441	NM_020879	A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372813	0.61624	0.0	3.49E-4	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.42131	0.98;0.98	5.78	5.78	0.91487	.	0.380168	0.29501	N	0.011975	T	0.44095	0.1277	L	0.58101	1.795	0.58432	D	0.999996	B;B	0.26876	0.162;0.104	B;B	0.19946	0.023;0.027	T	0.36114	-0.9761	10	0.66056	D	0.02	-1.5862	18.7832	0.91942	0.0:1.0:0.0:0.0	.	98;352	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	C	352;98	ENSP00000285871:R352C;ENSP00000413885:R98C	ENSP00000285871:R352C	R	+	1	0	AC007000.1	76729441	0.971000	0.33674	0.999000	0.59377	0.992000	0.81027	1.796000	0.38794	2.744000	0.94065	0.563000	0.77884	CGT		0.403	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
PTPN12	5782	broad.mit.edu	37	7	77200461	77200461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:77200461G>T	ENST00000248594.6	+	2	438	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	PTPN12_ENST00000435495.2_5'UTR|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	56	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.E56*(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						TGGAGAAAAAGAAGAAAATGT	0.308																																					p.E56X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G166T	7						.						48.0	49.0	49.0					7																	77200461		2201	4295	6496	77038397	SO:0001587	stop_gained	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.166G>T	7.37:g.77200461G>T	ENSP00000248594:p.Glu56*		77038397	NM_002835	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Nonsense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.683503|5.683503	0.96774|0.96774	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71728	.|0.3374	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67499	.|-0.5655	.|5	0.66056|0.29301	D|T	0.02|0.29	.|.	18.9405|18.9405	0.92604|0.92604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	56|18	.|.	ENSP00000248594:E56X|ENSP00000430726:K18N	E|K	+|+	1|3	0|2	PTPN12|PTPN12	77038397|77038397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.306000|3.306000	0.51881|0.51881	2.546000|2.546000	0.85860|0.85860	0.460000|0.460000	0.39030|0.39030	GAA|AAG		0.308	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
MAGI2	9863	broad.mit.edu	37	7	77998481	77998481	+	Nonsense_Mutation	SNP	A	A	C	rs374543762		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:77998481A>C	ENST00000354212.4	-	7	1348	c.1095T>G	c.(1093-1095)taT>taG	p.Y365*	MAGI2_ENST00000419488.1_Nonsense_Mutation_p.Y365*|MAGI2_ENST00000535697.1_Nonsense_Mutation_p.Y202*|MAGI2_ENST00000522391.1_Nonsense_Mutation_p.Y365*|MAGI2_ENST00000536571.1_Nonsense_Mutation_p.Y197*	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	365	Interaction with DDN.|WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.Y365*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTCAACATAATAAGTGCCAT	0.308																																					p.Y365X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1095G	7						.						68.0	69.0	68.0					7																	77998481		2201	4299	6500	77836417	SO:0001587	stop_gained	9863	exon7			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1095T>G	7.37:g.77998481A>C	ENSP00000346151:p.Tyr365*		77836417	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Nonsense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	A	42	9.491633	0.99186	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	.	.	.	5.86	-0.549	0.11829	.	0.000000	0.33650	U	0.004697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7639	0.40548	0.6514:0.0:0.3486:0.0	.	.	.	.	X	365;365;365;365;197;202	.	ENSP00000346151:Y365X	Y	-	3	2	MAGI2	77836417	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.925000	0.40074	-0.309000	0.08779	0.482000	0.46254	TAT		0.308	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
CACNA2D1	781	broad.mit.edu	37	7	81593665	81593665	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:81593665A>C	ENST00000356253.5	-	33	2876	c.2621T>G	c.(2620-2622)tTt>tGt	p.F874C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.F862C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.F74C			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	874					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F862C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCTCCAAAAAATCTTCCAAT	0.353																																					p.F862C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2585G	7						.						48.0	48.0	48.0					7																	81593665		2203	4300	6503	81431601	SO:0001583	missense	781	exon33			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2621T>G	7.37:g.81593665A>C	ENSP00000348589:p.Phe874Cys		81431601	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	A	21.9	4.217731	0.79352	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	D;D;D	0.82167	-1.58;-1.58;-1.58	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92799	0.6255	10	0.87932	D	0	-23.1057	15.7082	0.77602	1.0:0.0:0.0:0.0	.	74;862	B7Z658;P54289-2	.;.	C	862;881;874;74	ENSP00000349320:F862C;ENSP00000348589:F874C;ENSP00000443124:F74C	ENSP00000284088:F881C	F	-	2	0	CACNA2D1	81431601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.478000	0.90428	2.167000	0.68274	0.528000	0.53228	TTT		0.353	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
CACNA2D1	781	broad.mit.edu	37	7	81637059	81637059	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:81637059A>C	ENST00000356253.5	-	16	1631	c.1376T>G	c.(1375-1377)gTc>gGc	p.V459G	CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.V459G|MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	459	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V459G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCCAGTAATGACAAGTCCCAG	0.308																																					p.V459G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1376G	7						.						46.0	45.0	45.0					7																	81637059		2203	4298	6501	81474995	SO:0001583	missense	781	exon16			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1376T>G	7.37:g.81637059A>C	ENSP00000348589:p.Val459Gly		81474995	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37		.	.	.	.	.	.	.	.	.	.	A	24.7	4.560506	0.86335	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.09445	2.98;2.98	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29822	-0.9999	10	0.87932	D	0	-16.494	15.4403	0.75178	1.0:0.0:0.0:0.0	.	459	P54289-2	.	G	459	ENSP00000349320:V459G;ENSP00000348589:V459G	ENSP00000284088:V459G	V	-	2	0	CACNA2D1	81474995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.866000	0.92307	2.122000	0.65172	0.477000	0.44152	GTC		0.308	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	broad.mit.edu	37	7	82435023	82435023	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:82435023G>T	ENST00000333891.9	-	21	15251	c.14914C>A	c.(14914-14916)Cta>Ata	p.L4972I		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.L4972I(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						ATAGGAAATAGATTAGTCTCC	0.478																																					p.L4972I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14914A	7						.						61.0	64.0	63.0					7																	82435023		2015	4188	6203	82272959	SO:0001583	missense	27445	exon21			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.14914C>A	7.37:g.82435023G>T	ENSP00000334319:p.Leu4972Ile		82272959	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064580	0.36470	.	.	ENSG00000186472	ENST00000333891	T	0.15256	2.44	5.69	5.69	0.88448	.	.	.	.	.	T	0.16811	0.0404	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	P	0.52514	0.701	T	0.06789	-1.0807	9	0.87932	D	0	.	15.4168	0.74977	0.0:0.0:0.8603:0.1397	.	4972	Q9Y6V0-5	.	I	4972	ENSP00000334319:L4972I	ENSP00000334319:L4972I	L	-	1	2	PCLO	82272959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.044000	0.41241	2.668000	0.90789	0.557000	0.71058	CTA		0.478	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	82581432	82581432	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:82581432T>G	ENST00000333891.9	-	5	9174	c.8837A>C	c.(8836-8838)aAa>aCa	p.K2946T	PCLO_ENST00000423517.2_Missense_Mutation_p.K2946T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K2946T(2)|p.K2877T(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						AAATGGTAATTTATAAACCAC	0.428																																					p.K2946T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A8837C	7						.						101.0	100.0	101.0					7																	82581432		1913	4133	6046	82419368	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.8837A>C	7.37:g.82581432T>G	ENSP00000334319:p.Lys2946Thr		82419368	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	9.043	0.990210	0.18966	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.29142	1.62;1.58	5.67	3.27	0.37495	.	.	.	.	.	T	0.21631	0.0521	L	0.34521	1.04	0.80722	D	1	B;B	0.18166	0.015;0.026	B;B	0.18561	0.022;0.022	T	0.05599	-1.0875	9	0.87932	D	0	.	5.9274	0.19120	0.0:0.141:0.14:0.719	.	2946;2946	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2877;2946;2946	ENSP00000334319:K2946T;ENSP00000388393:K2946T	ENSP00000334319:K2946T	K	-	2	0	PCLO	82419368	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.859000	0.48364	0.403000	0.25479	0.455000	0.32223	AAA		0.428	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	82585490	82585490	+	Silent	SNP	C	C	T	rs185258926	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:82585490C>T	ENST00000333891.9	-	5	5116	c.4779G>A	c.(4777-4779)aaG>aaA	p.K1593K	PCLO_ENST00000423517.2_Silent_p.K1593K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K1593K(2)|p.K1524K(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						TTTCTTCCTTCTTCTGGCTCT	0.423													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22317	0.0		0.0	False		,,,				2504	0.0				p.K1593K												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G4779A	7						.	C	,	5,3931		0,5,1963	210.0	201.0	204.0		4779,4779	2.4	0.8	7		204	0,8300		0,0,4150	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,5,6113	TT,TC,CC		0.0,0.127,0.0409	,	1593/4936,1593/5143	82585490	5,12231	1968	4150	6118	82423426	SO:0001819	synonymous_variant	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.4779G>A	7.37:g.82585490C>T			82423426	NM_033026		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3D	223117	broad.mit.edu	37	7	84628806	84628806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:84628806G>A	ENST00000284136.6	-	17	2327	c.2284C>T	c.(2284-2286)Cga>Tga	p.R762*	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	762	Arg/Lys-rich (basic).				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R762*(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGATGTCTTCGATTTCGTTTC	0.453																																					p.R762X	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2284T	7						.						178.0	144.0	156.0					7																	84628806		2203	4300	6503	84466742	SO:0001587	stop_gained	223117	exon17			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.2284C>T	7.37:g.84628806G>A	ENSP00000284136:p.Arg762*		84466742	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Nonsense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.197154	0.58126	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.93	1.9	0.25705	.	0.117189	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2036	0.89847	0.0:0.0:0.383:0.617	.	.	.	.	X	762	.	ENSP00000284136:R762X	R	-	1	2	SEMA3D	84466742	0.993000	0.37304	0.381000	0.26106	0.247000	0.25773	1.104000	0.31074	-0.140000	0.11394	-0.808000	0.03180	CGA		0.453	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
SEMA3D	223117	broad.mit.edu	37	7	84727134	84727134	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:84727134T>G	ENST00000284136.6	-	2	342	c.299A>C	c.(298-300)aAa>aCa	p.K100T	SEMA3D_ENST00000444867.1_Missense_Mutation_p.K100T	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	100	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.K100T(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTTAAAATTTTTGTTTAAGTC	0.353																																					p.K100T	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A299C	7						.						80.0	84.0	83.0					7																	84727134		2203	4297	6500	84565070	SO:0001583	missense	223117	exon2			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.299A>C	7.37:g.84727134T>G	ENSP00000284136:p.Lys100Thr		84565070	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131708	0.37630	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.11385	2.78;2.78	5.56	3.06	0.35304	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.227922	0.51477	N	0.000097	T	0.10895	0.0266	L	0.50847	1.595	0.52501	D	0.999953	B;B	0.13145	0.003;0.007	B;B	0.15052	0.007;0.012	T	0.06481	-1.0824	10	0.62326	D	0.03	.	8.6339	0.33936	0.0:0.0679:0.1299:0.8022	.	100;100	C9JYT6;O95025	.;SEM3D_HUMAN	T	100	ENSP00000284136:K100T;ENSP00000401366:K100T	ENSP00000284136:K100T	K	-	2	0	SEMA3D	84565070	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.168000	0.42424	0.428000	0.26173	0.482000	0.46254	AAA		0.353	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
ABCB4	5244	broad.mit.edu	37	7	87041325	87041325	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:87041325G>T	ENST00000265723.4	-	23	2919	c.2808C>A	c.(2806-2808)atC>atA	p.I936I	ABCB4_ENST00000545634.1_Silent_p.I936I|ABCB4_ENST00000359206.3_Silent_p.I936I|ABCB4_ENST00000358400.3_Intron|ABCB4_ENST00000453593.1_Intron	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	936	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.I936I(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TAATTCCATAGATGTGTGCCT	0.403																																					p.I936I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2808A	7						.						70.0	67.0	68.0					7																	87041325		2203	4300	6503	86879261	SO:0001819	synonymous_variant	5244	exon23			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2808C>A	7.37:g.87041325G>T			86879261	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	CCDS5606.1																																																																																				0.403	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB4	5244	broad.mit.edu	37	7	87073085	87073085	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:87073085G>T	ENST00000265723.4	-	11	1235	c.1124C>A	c.(1123-1125)cCt>cAt	p.P375H	ABCB4_ENST00000545634.1_Missense_Mutation_p.P375H|ABCB4_ENST00000359206.3_Missense_Mutation_p.P375H|ABCB4_ENST00000358400.3_Missense_Mutation_p.P375H|ABCB4_ENST00000453593.1_Missense_Mutation_p.P375H	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	375					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.P375H(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTCAATTTTAGGATTCTAAAT	0.348																																					p.P375H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1124A	7						.						105.0	100.0	102.0					7																	87073085		2203	4300	6503	86911021	SO:0001583	missense	5244	exon11			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1124C>A	7.37:g.87073085G>T	ENSP00000265723:p.Pro375His		86911021	NM_018849	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.076836	0.76415	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.47	4.57	0.56435	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;1.0	D	0.93551	0.6886	10	0.87932	D	0	-9.4423	16.0631	0.80853	0.0:0.1345:0.8655:0.0	.	375;375;375	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	H	375	ENSP00000352135:P375H;ENSP00000351172:P375H;ENSP00000265723:P375H;ENSP00000392983:P375H;ENSP00000437465:P375H	ENSP00000265723:P375H	P	-	2	0	ABCB4	86911021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.729000	0.74775	1.258000	0.44101	0.591000	0.81541	CCT		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB1	5243	broad.mit.edu	37	7	87179202	87179202	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:87179202C>T	ENST00000265724.3	-	14	1936	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	ABCB1_ENST00000543898.1_Missense_Mutation_p.A443T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	507	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A507T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TAGGCATTGGCTTCCTTGACA	0.438																																					p.A507T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1519A	7						.						253.0	240.0	244.0					7																	87179202		2203	4300	6503	87017138	SO:0001583	missense	5243	exon14			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1519G>A	7.37:g.87179202C>T	ENSP00000265724:p.Ala507Thr		87017138	NM_000927	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906661	0.92107	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92752	-3.1;-3.1	6.02	6.02	0.97574	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.052920	0.85682	D	0.000000	D	0.95909	0.8668	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.985;1.0	D	0.95560	0.8628	10	0.87932	D	0	-19.9521	20.547	0.99278	0.0:1.0:0.0:0.0	.	443;507	B5AK60;P08183	.;MDR1_HUMAN	T	288;507;443	ENSP00000265724:A507T;ENSP00000444095:A443T	ENSP00000265724:A507T	A	-	1	0	ABCB1	87017138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.944000	0.63561	2.850000	0.98022	0.650000	0.86243	GCC		0.438	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
RUNDC3B	154661	broad.mit.edu	37	7	87445561	87445561	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:87445561A>C	ENST00000338056.3	+	11	1671	c.1260A>C	c.(1258-1260)ttA>ttC	p.L420F	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.L354F|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.L403F	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	420								p.L420F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AAGACACATTAAATGTAATGA	0.358																																					p.L403F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1209C	7						.						76.0	70.0	72.0					7																	87445561		2203	4300	6503	87283497	SO:0001583	missense	154661	exon10				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1260A>C	7.37:g.87445561A>C	ENSP00000337732:p.Leu420Phe		87283497	NM_001134405	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097266	0.37048	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.47177	0.85;0.85;0.85	5.26	2.92	0.33932	.	0.338062	0.31784	N	0.007066	T	0.40119	0.1104	N	0.22421	0.69	0.29057	N	0.884132	B;B;B;D;B	0.57571	0.001;0.001;0.0;0.98;0.003	B;B;B;P;B	0.54174	0.001;0.001;0.001;0.744;0.004	T	0.27905	-1.0060	10	0.49607	T	0.09	-2.7361	5.0208	0.14360	0.7302:0.0:0.1296:0.1401	.	403;403;276;354;420	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	F	420;354;403	ENSP00000337732:L420F;ENSP00000420394:L354F;ENSP00000378149:L403F	ENSP00000337732:L420F	L	+	3	2	RUNDC3B	87283497	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	0.708000	0.25719	0.426000	0.26116	0.528000	0.53228	TTA		0.358	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
ZNF804B	219578	broad.mit.edu	37	7	88847567	88847567	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:88847567G>A	ENST00000333190.4	+	2	816	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	69							metal ion binding (GO:0046872)	p.E69E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACACCAGGAGTTTGACAATC	0.383										HNSCC(36;0.09)																											p.E69E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G207A	7						.						94.0	91.0	92.0					7																	88847567		2203	4300	6503	88685503	SO:0001819	synonymous_variant	219578	exon2			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.207G>A	7.37:g.88847567G>A			88685503	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
AKAP9	10142	broad.mit.edu	37	7	91603230	91603230	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:91603230G>T	ENST00000359028.2	+	3	515	c.290G>T	c.(289-291)aGa>aTa	p.R97I	AKAP9_ENST00000394564.1_Missense_Mutation_p.R85I|AKAP9_ENST00000356239.3_Missense_Mutation_p.R85I|AKAP9_ENST00000358100.2_Missense_Mutation_p.R97I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	97					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.R85I(1)|p.R97I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATAATGAGAACTCTACAT	0.353			T	BRAF	papillary thyroid																																p.R85I			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G254T	7						.						68.0	65.0	66.0					7																	91603230		2203	4300	6503	91441166	SO:0001583	missense	10142	exon2			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.290G>T	7.37:g.91603230G>T	ENSP00000351922:p.Arg97Ile		91441166	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	4.396	0.073205	0.08485	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.66638	2.55;2.55;2.55;-0.22;-0.22	3.75	0.829	0.18847	.	.	.	.	.	T	0.72550	0.3474	L	0.55481	1.735	0.24980	N	0.991601	D;D;D;B	0.76494	0.999;0.997;0.989;0.4	D;D;P;B	0.70016	0.967;0.952;0.893;0.082	T	0.59579	-0.7428	9	0.72032	D	0.01	.	5.2503	0.15519	0.1881:0.1684:0.6434:0.0	.	85;85;97;85	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	I	85;97;97;97;97;85;54	ENSP00000348573:R85I;ENSP00000351922:R97I;ENSP00000350813:R97I;ENSP00000378065:R85I;ENSP00000391704:R54I	ENSP00000348573:R85I	R	+	2	0	AKAP9	91441166	0.978000	0.34361	0.001000	0.08648	0.006000	0.05464	1.756000	0.38390	0.037000	0.15575	-0.154000	0.13518	AGA		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91726945	91726945	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:91726945C>A	ENST00000359028.2	+	42	10681	c.10456C>A	c.(10456-10458)Ctt>Att	p.L3486I	AKAP9_ENST00000356239.3_Missense_Mutation_p.L3482I|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3432I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3486					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.L3486I(2)|p.L3482I(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)			AAATTGGGTTCTTCAACAGAA	0.353			T	BRAF	papillary thyroid																																p.L3474I			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C10420A	7						.						80.0	81.0	81.0					7																	91726945		2203	4300	6503	91564881	SO:0001583	missense	10142	exon42			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.10456C>A	7.37:g.91726945C>A	ENSP00000351922:p.Leu3486Ile		91564881	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	11.70	1.715644	0.30413	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04654	3.68;3.68;3.69;3.58	5.32	4.43	0.53597	.	0.000000	0.37577	N	0.002028	T	0.10637	0.0260	M	0.75447	2.3	0.30182	N	0.80032	D;B;B;P;P	0.53885	0.963;0.087;0.404;0.539;0.539	P;B;B;B;B	0.48454	0.578;0.063;0.082;0.17;0.17	T	0.04855	-1.0922	10	0.59425	D	0.04	.	8.4654	0.32953	0.1541:0.7682:0.0:0.0777	.	757;3486;3486;3482;3474	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	I	3482;3486;3432;3486;1328	ENSP00000348573:L3482I;ENSP00000351922:L3486I;ENSP00000350813:L3432I;ENSP00000378042:L1328I	ENSP00000348573:L3482I	L	+	1	0	AKAP9	91564881	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	1.693000	0.37742	1.349000	0.45751	0.585000	0.79938	CTT		0.353	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
SAMD9	54809	broad.mit.edu	37	7	92730826	92730826	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:92730826G>A	ENST00000379958.2	-	3	4854	c.4585C>T	c.(4585-4587)Cgt>Tgt	p.R1529C		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1529						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R1529C(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)			CCTTGTAAACGAAGCAAAAGT	0.368																																					p.R1529C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4585T	7						.						80.0	81.0	81.0					7																	92730826		2203	4300	6503	92568762	SO:0001583	missense	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.4585C>T	7.37:g.92730826G>A	ENSP00000369292:p.Arg1529Cys		92568762	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288674	0.59976	.	.	ENSG00000205413	ENST00000379958	T	0.30981	1.51	4.34	4.34	0.51931	.	0.083461	0.45606	U	0.000348	T	0.45276	0.1334	L	0.41824	1.3	0.40117	D	0.976551	D	0.89917	1.0	D	0.65987	0.94	T	0.48068	-0.9067	10	0.72032	D	0.01	.	15.8966	0.79338	0.0:0.0:1.0:0.0	.	1529	Q5K651	SAMD9_HUMAN	C	1529	ENSP00000369292:R1529C	ENSP00000369292:R1529C	R	-	1	0	SAMD9	92568762	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	1.597000	0.36729	2.420000	0.82092	0.609000	0.83330	CGT		0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92732728	92732728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:92732728C>A	ENST00000379958.2	-	3	2952	c.2683G>T	c.(2683-2685)Gaa>Taa	p.E895*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	895						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				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)			TCTATGTATTCTTTATTAAAA	0.313																																					p.E895X												.	.	0			c.G2683T	7						.						42.0	44.0	43.0					7																	92732728		2202	4296	6498	92570664	SO:0001587	stop_gained	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.2683G>T	7.37:g.92732728C>A	ENSP00000369292:p.Glu895*		92570664	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	36	5.812083	0.96975	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.47	1.2	0.21068	.	0.543592	0.16121	U	0.228660	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.0607	7.1264	0.25473	0.0:0.4969:0.0:0.5031	.	.	.	.	X	895	.	ENSP00000369292:E895X	E	-	1	0	SAMD9	92570664	0.000000	0.05858	0.656000	0.29637	0.859000	0.49053	-0.516000	0.06282	0.069000	0.16605	0.609000	0.83330	GAA		0.313	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9	54809	broad.mit.edu	37	7	92733272	92733272	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:92733272T>C	ENST00000379958.2	-	3	2408	c.2139A>G	c.(2137-2139)agA>agG	p.R713R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	713						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.R713R(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)			TTGCTTCAAGTCTTTCATATT	0.388																																					p.R713R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2139G	7						.						179.0	177.0	178.0					7																	92733272		2203	4300	6503	92571208	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.2139A>G	7.37:g.92733272T>C			92571208	NM_001193307	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	CCDS34680.1																																																																																				0.388	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
SAMD9L	219285	broad.mit.edu	37	7	92761627	92761627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:92761627C>A	ENST00000318238.4	-	5	4874	c.3658G>T	c.(3658-3660)Gaa>Taa	p.E1220*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1220*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1220*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1220					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.E1220*(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)			AATTCATTTTCTTTGTGGAAA	0.368																																					p.E1220X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3658T	7						.						94.0	88.0	90.0					7																	92761627		2203	4299	6502	92599563	SO:0001587	stop_gained	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3658G>T	7.37:g.92761627C>A	ENSP00000326247:p.Glu1220*		92599563	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	48	14.733070	0.99808	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.77	2.95	0.34219	.	0.428747	0.22262	N	0.062393	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.6343	6.2489	0.20835	0.0:0.5497:0.291:0.1593	.	.	.	.	X	1220	.	ENSP00000326247:E1220X	E	-	1	0	SAMD9L	92599563	0.000000	0.05858	0.505000	0.27651	0.547000	0.35210	-0.559000	0.05971	0.720000	0.32209	0.467000	0.42956	GAA		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
CALCR	799	broad.mit.edu	37	7	93090148	93090148	+	Silent	SNP	G	G	A	rs147794595	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:93090148G>A	ENST00000394441.1	-	7	948	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CALCR_ENST00000421592.1_Silent_p.L227L|CALCR_ENST00000426151.1_Silent_p.L211L|CALCR_ENST00000360249.4_Silent_p.L227L|CALCR_ENST00000359558.2_Silent_p.L245L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	245					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L245L(1)|p.L211L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CCCTTCGCACGAGCTCTCCAT	0.388																																					p.L211L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C633T	7						.	G	,,	5,4401	9.9+/-24.2	0,5,2198	126.0	123.0	124.0		735,633,633	-6.9	0.0	7	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CALCR	NM_001164737.1,NM_001164738.1,NM_001742.3	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	245/509,211/475,211/475	93090148	5,13001	2203	4300	6503	92928084	SO:0001819	synonymous_variant	799	exon8			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.633C>T	7.37:g.93090148G>A			92928084	NM_001742	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																				0.388	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
TFPI2	7980	broad.mit.edu	37	7	93518432	93518432	+	Missense_Mutation	SNP	G	G	T	rs150637497		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:93518432G>T	ENST00000222543.5	-	3	687	c.375C>A	c.(373-375)ttC>ttA	p.F125L	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	125	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F125L(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CACCGGAAAAGAATTTTTCAC	0.443																																					p.F125L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C375A	7						.	G	LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	81.0	91.0	87.0		375	0.6	0.0	7	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TFPI2	NM_006528.2	22	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	benign	125/236	93518432	2,13004	2203	4300	6503	93356368	SO:0001583	missense	7980	exon3			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.375C>A	7.37:g.93518432G>T	ENSP00000222543:p.Phe125Leu		93356368	NM_006528	Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	ENST00000222543.5	37	CCDS5632.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837747	0.32513	2.27E-4	1.16E-4	ENSG00000105825	ENST00000222543;ENST00000451238	T;T	0.68765	-0.35;-0.35	5.25	0.641	0.17759	Proteinase inhibitor I2, Kunitz metazoa (5);	0.210131	0.51477	N	0.000100	T	0.71160	0.3307	M	0.93420	3.415	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.22152	0.038;0.022	T	0.65249	-0.6214	10	0.44086	T	0.13	.	9.9807	0.41811	0.5133:0.0:0.4867:0.0	.	114;125	Q8NAK6;P48307	.;TFPI2_HUMAN	L	125;46	ENSP00000222543:F125L;ENSP00000416370:F46L	ENSP00000222543:F125L	F	-	3	2	TFPI2	93356368	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.189000	0.09629	0.139000	0.18822	0.467000	0.42956	TTC		0.443	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	
TRRAP	8295	broad.mit.edu	37	7	98495485	98495485	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:98495485G>A	ENST00000359863.4	+	8	838	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.R210Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R210Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	210					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.R210Q(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)			AGTGAGACTCGAACAGTAAGT	0.463																																					p.R210Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G629A	7						.						165.0	151.0	156.0					7																	98495485		2203	4300	6503	98333421	SO:0001583	missense	8295	exon8			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.629G>A	7.37:g.98495485G>A	ENSP00000352925:p.Arg210Gln		98333421	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363547	0.61513	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02472	4.28;4.28	5.58	5.58	0.84498	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.02929	0.0087	N	0.00554	-1.385	0.80722	D	1	D;D	0.69078	0.997;0.994	D;P	0.66847	0.947;0.885	T	0.73411	-0.3991	10	0.11794	T	0.64	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	210;210	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	Q	210	ENSP00000352925:R210Q;ENSP00000347733:R210Q	ENSP00000347733:R210Q	R	+	2	0	TRRAP	98333421	1.000000	0.71417	0.911000	0.35937	0.930000	0.56654	9.765000	0.98953	2.650000	0.89964	0.591000	0.81541	CGA		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
GJC3	349149	broad.mit.edu	37	7	99526508	99526508	+	Missense_Mutation	SNP	C	C	T	rs191464858		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:99526508C>T	ENST00000312891.2	-	1	735	c.736G>A	c.(736-738)Gat>Aat	p.D246N	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	246					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)		p.D246N(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGGCTATCGGTTGCTTTC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19703	0.001		0.0	False		,,,				2504	0.0				p.D246N												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G736A	7						.						133.0	130.0	131.0					7																	99526508		2203	4300	6503	99364444	SO:0001583	missense	349149	exon1			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.736G>A	7.37:g.99526508C>T	ENSP00000325775:p.Asp246Asn		99364444	NM_181538	A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	CCDS34697.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.624	0.116041	0.08831	.	.	ENSG00000176402	ENST00000312891	D	0.97941	-4.62	3.75	0.763	0.18459	.	2.765090	0.01548	N	0.019552	D	0.92205	0.7528	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.04013	0.001	D	0.87471	0.2414	10	0.17369	T	0.5	.	5.4255	0.16423	0.0:0.5913:0.0:0.4087	.	246	Q8NFK1	CXG3_HUMAN	N	246	ENSP00000325775:D246N	ENSP00000325775:D246N	D	-	1	0	GJC3	99364444	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.166000	0.09954	0.143000	0.18926	0.655000	0.94253	GAT		0.478	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538	
COPS6	10980	broad.mit.edu	37	7	99688890	99688890	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:99688890G>A	ENST00000303904.3	+	8	716	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	COPS6_ENST00000418625.1_Missense_Mutation_p.A226T|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MIR106B_ENST00000385301.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	227	Interaction with Vpr.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.A227T(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACAGCACAGCGCCATCAAGAT	0.582																																					p.A227T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679A	7						.						207.0	193.0	197.0					7																	99688890		2203	4300	6503	99526826	SO:0001583	missense	10980	exon8			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.679G>A	7.37:g.99688890G>A	ENSP00000304102:p.Ala227Thr		99526826	NM_006833	A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471304	0.84533	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.56611	0.45;0.45	5.06	4.19	0.49359	.	0.057914	0.64402	N	0.000002	T	0.77811	0.4186	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82528	-0.0412	10	0.66056	D	0.02	-9.2235	11.0489	0.47876	0.0891:0.0:0.9109:0.0	.	227	Q7L5N1	CSN6_HUMAN	T	227;226	ENSP00000304102:A227T;ENSP00000400617:A226T	ENSP00000304102:A227T	A	+	1	0	COPS6	99526826	1.000000	0.71417	0.912000	0.35992	0.890000	0.51754	8.430000	0.90283	1.361000	0.45981	0.655000	0.94253	GCC		0.582	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833	
CNPY1	285888	broad.mit.edu	37	7	155301689	155301689	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr7:155301689C>A	ENST00000321736.5	-	2	206	c.44G>T	c.(43-45)aGa>aTa	p.R15I	CNPY1_ENST00000406197.1_Missense_Mutation_p.R15I|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	15								p.R15I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGAAAGTTCTCTCCTTCGT	0.418																																					p.R15I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G44T	7						.						80.0	77.0	78.0					7																	155301689		1820	4082	5902	154994450	SO:0001583	missense	285888	exon2				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.44G>T	7.37:g.155301689C>A	ENSP00000317439:p.Arg15Ile		154994450	NM_001103176	A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215182	0.39102	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.38722	1.12;1.12	5.0	1.73	0.24493	.	0.186249	0.45606	D	0.000347	T	0.32102	0.0818	.	.	.	0.09310	N	0.999999	P	0.37573	0.6	B	0.36608	0.229	T	0.19257	-1.0311	9	0.87932	D	0	-9.4838	8.2792	0.31889	0.0:0.2929:0.0:0.7071	.	15	Q3B7I2	CNPY1_HUMAN	I	15	ENSP00000384514:R15I;ENSP00000317439:R15I	ENSP00000317439:R15I	R	-	2	0	CNPY1	154994450	0.239000	0.23836	0.008000	0.14137	0.957000	0.61999	0.375000	0.20518	0.291000	0.22468	0.557000	0.71058	AGA		0.418	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537	
TASP1	55617	broad.mit.edu	37	20	13539737	13539737	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:13539737C>A	ENST00000337743.4	-	8	713	c.593G>T	c.(592-594)aGa>aTa	p.R198I	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	198					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.R198I(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CCTCTTGTTTCTTTTAAATGC	0.313																																					p.R198I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G593T	20						.						131.0	128.0	129.0					20																	13539737		2203	4300	6503	13487737	SO:0001583	missense	55617	exon8			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.593G>T	20.37:g.13539737C>A	ENSP00000338624:p.Arg198Ile		13487737	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461781	0.84425	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.87571	-2.27;-2.27	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93979	0.8072	M	0.91249	3.19	0.80722	D	1	P;D	0.58620	0.838;0.983	P;P	0.58331	0.51;0.837	D	0.94816	0.7983	10	0.66056	D	0.02	-17.3473	17.1826	0.86858	0.0:1.0:0.0:0.0	.	198;175	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	I	175;198;175	ENSP00000338624:R198I;ENSP00000400580:R175I	ENSP00000338624:R198I	R	-	2	0	TASP1	13487737	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.410000	0.73294	2.652000	0.90054	0.591000	0.81541	AGA		0.313	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
TASP1	55617	broad.mit.edu	37	20	13604143	13604143	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:13604143C>T	ENST00000337743.4	-	4	352	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	TASP1_ENST00000544472.1_Missense_Mutation_p.A78T|TASP1_ENST00000539805.1_Missense_Mutation_p.A78T|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	78					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.A78T(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGAGCACCGGCCTGCAGCTTT	0.383																																					p.A78T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	20						.						13.0	16.0	15.0					20																	13604143		2178	4267	6445	13552143	SO:0001583	missense	55617	exon4			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.232G>A	20.37:g.13604143C>T	ENSP00000338624:p.Ala78Thr		13552143	NM_017714	B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444940	0.83993	.	.	ENSG00000089123	ENST00000539805;ENST00000337743;ENST00000544472	D	0.88586	-2.4	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	L	0.58354	1.805	0.80722	D	1	P;B	0.35745	0.518;0.071	B;B	0.36418	0.224;0.033	D	0.84535	0.0635	10	0.15952	T	0.53	-11.6658	19.7441	0.96245	0.0:1.0:0.0:0.0	.	78;78	B7Z963;Q9H6P5	.;TASP1_HUMAN	T	78	ENSP00000338624:A78T	ENSP00000338624:A78T	A	-	1	0	TASP1	13552143	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.473000	0.45145	2.669000	0.90835	0.585000	0.79938	GCC		0.383	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714	
ESF1	51575	broad.mit.edu	37	20	13714414	13714414	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:13714414A>G	ENST00000202816.1	-	10	2011	c.1904T>C	c.(1903-1905)tTt>tCt	p.F635S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	635	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F635S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTCTCTAAAAATTGTTCCCA	0.328																																					p.F635S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1904C	20						.						139.0	145.0	143.0					20																	13714414		2203	4299	6502	13662414	SO:0001583	missense	51575	exon10				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1904T>C	20.37:g.13714414A>G	ENSP00000202816:p.Phe635Ser		13662414	NM_016649	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565312	0.65651	.	.	ENSG00000089048	ENST00000202816	T	0.75938	-0.98	5.5	5.5	0.81552	.	0.189583	0.46758	D	0.000272	D	0.83362	0.5238	M	0.70595	2.14	0.40972	D	0.984703	D	0.71674	0.998	D	0.75484	0.986	D	0.84642	0.0696	10	0.52906	T	0.07	.	9.9201	0.41459	0.8479:0.0:0.0:0.1521	.	635	Q9H501	ESF1_HUMAN	S	635	ENSP00000202816:F635S	ENSP00000202816:F635S	F	-	2	0	ESF1	13662414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.421000	0.44688	2.084000	0.62774	0.528000	0.53228	TTT		0.328	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
ESF1	51575	broad.mit.edu	37	20	13763225	13763225	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:13763225A>C	ENST00000202816.1	-	2	669	c.562T>G	c.(562-564)Tta>Gta	p.L188V	NDUFAF5_ENST00000378106.5_5'Flank|NDUFAF5_ENST00000463598.1_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L188V(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTGAGTCTAATGTCCTTTGT	0.343																																					p.L188V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T562G	20						.						63.0	63.0	63.0					20																	13763225		2203	4300	6503	13711225	SO:0001583	missense	51575	exon2				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.562T>G	20.37:g.13763225A>C	ENSP00000202816:p.Leu188Val		13711225	NM_016649	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	A	2.009	-0.427505	0.04701	.	.	ENSG00000089048	ENST00000202816	T	0.21361	2.01	4.99	-4.3	0.03710	.	1.844080	0.02894	N	0.134487	T	0.08670	0.0215	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26815	-1.0092	10	0.29301	T	0.29	.	4.6031	0.12363	0.4417:0.1978:0.0:0.3606	.	188	Q9H501	ESF1_HUMAN	V	188	ENSP00000202816:L188V	ENSP00000202816:L188V	L	-	1	2	ESF1	13711225	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	0.006000	0.13152	-0.174000	0.10743	-0.565000	0.04167	TTA		0.343	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
SEL1L2	80343	broad.mit.edu	37	20	13847414	13847414	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:13847414A>C	ENST00000284951.5	-	15	1412	c.1338T>G	c.(1336-1338)atT>atG	p.I446M	SEL1L2_ENST00000378072.5_Missense_Mutation_p.I446M|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	446						integral component of membrane (GO:0016021)		p.I446M(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						CCAGATAATAAATGGCAAGGG	0.393																																					p.I446M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1338G	20						.						108.0	104.0	105.0					20																	13847414		1856	4096	5952	13795414	SO:0001583	missense	80343	exon15			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.1338T>G	20.37:g.13847414A>C	ENSP00000284951:p.Ile446Met		13795414	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	A	11.86	1.764571	0.31228	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.50813	0.73;0.73	6.03	3.81	0.43845	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000004	T	0.55529	0.1926	L	0.47716	1.5	0.37085	D	0.899154	P;D	0.76494	0.636;0.999	P;D	0.73708	0.451;0.981	T	0.56715	-0.7933	10	0.34782	T	0.22	-13.098	7.4379	0.27166	0.7623:0.0:0.2377:0.0	.	446;446	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	446	ENSP00000367312:I446M;ENSP00000284951:I446M	ENSP00000284951:I446M	I	-	3	3	SEL1L2	13795414	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.620000	0.46410	0.536000	0.28733	-0.379000	0.06801	ATT		0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
KIF16B	55614	broad.mit.edu	37	20	16360507	16360507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:16360507C>A	ENST00000354981.2	-	19	2297	c.2140G>T	c.(2140-2142)Gaa>Taa	p.E714*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E714*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E714*|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	714	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E714*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTGTTGAGTTCTTTGAGTCGT	0.458																																					p.E714X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2140T	20						.						155.0	142.0	147.0					20																	16360507		2203	4300	6503	16308507	SO:0001587	stop_gained	55614	exon19			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2140G>T	20.37:g.16360507C>A	ENSP00000347076:p.Glu714*		16308507	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.830927|4.830927	0.91036|0.91036	.|.	.|.	ENSG00000089177|ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042|ENST00000450176	.|T	.|0.17854	.|2.25	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.057994|.	0.64402|.	D|.	0.000003|.	.|T	.|0.39733	.|0.1089	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11275	.|-1.0594	.|6	0.07813|0.54805	T|T	0.8|0.06	.|.	18.7471|18.7471	0.91797|0.91797	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	714|148	.|ENSP00000396264:K148N	ENSP00000347076:E714X|ENSP00000396264:K148N	E|K	-|-	1|3	0|2	KIF16B|KIF16B	16308507|16308507	1.000000|1.000000	0.71417|0.71417	0.174000|0.174000	0.22961|0.22961	0.012000|0.012000	0.07955|0.07955	6.670000|6.670000	0.74467|0.74467	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
SEC23B	10483	broad.mit.edu	37	20	18496339	18496339	+	Missense_Mutation	SNP	G	G	A	rs121918221		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:18496339G>A	ENST00000336714.3	+	4	757	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	SEC23B_ENST00000262544.2_Missense_Mutation_p.E109K|SEC23B_ENST00000377465.1_Missense_Mutation_p.E109K|SEC23B_ENST00000377475.3_Missense_Mutation_p.E109K|SEC23B_ENST00000494645.1_3'UTR	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	109			E -> K (in CDAN2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type). {ECO:0000269|PubMed:19561605, ECO:0000269|PubMed:19621418}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.E109K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAACCTGCCGAATTGATGCC	0.353													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22584	0.0		0.0	False		,,,				2504	0.0				p.E109K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G325A	20						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	174.0	127.0	143.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	325,325,325,325,325	5.0	1.0	20	dbSNP_133	143	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	SEC23B	NM_001172745.1,NM_001172746.1,NM_006363.4,NM_032985.4,NM_032986.3	56,56,56,56,56	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	109/768,109/750,109/768,109/768,109/768	18496339	3,13003	2203	4300	6503	18444339	SO:0001583	missense	10483	exon4			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.325G>A	20.37:g.18496339G>A	ENSP00000338844:p.Glu109Lys		18444339	NM_032986	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	CCDS13137.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.675861	0.96764	2.27E-4	2.33E-4	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.04	5.04	0.67666	Zinc finger, Sec23/Sec24-type (1);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	H	0.96208	3.785	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.97400	0.9995	9	0.87932	D	0	-23.8649	17.9094	0.88929	0.0:0.0:1.0:0.0	.	109;109	B4DJW8;Q15437	.;SC23B_HUMAN	K	109	ENSP00000403971:E109K;ENSP00000338844:E109K;ENSP00000262544:E109K;ENSP00000366695:E109K;ENSP00000366685:E109K	ENSP00000262544:E109K	E	+	1	0	SEC23B	18444339	1.000000	0.71417	0.986000	0.45419	0.939000	0.58152	9.433000	0.97501	2.776000	0.95493	0.650000	0.86243	GAA		0.353	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
CRNKL1	51340	broad.mit.edu	37	20	20018119	20018119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:20018119G>A	ENST00000377340.2	-	14	2258	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*	CRNKL1_ENST00000536226.1_Nonsense_Mutation_p.R582*|CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.R731*|CRNKL1_ENST00000521379.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	743					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.R743*(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCACAGTTTCGCATGGTTTTG	0.383																																					p.R743X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2227T	20						.						187.0	183.0	185.0					20																	20018119		2203	4300	6503	19966119	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.2227C>T	20.37:g.20018119G>A	ENSP00000366557:p.Arg743*		19966119	NM_016652	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Nonsense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	37	6.429326	0.97559	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	.	.	.	5.02	-1.55	0.08558	.	0.051632	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-10.4844	16.7856	0.85573	0.0:0.0:0.308:0.692	.	.	.	.	X	731;743;582	.	ENSP00000366544:R731X	R	-	1	2	CRNKL1	19966119	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	1.273000	0.33121	-0.041000	0.13558	-0.516000	0.04426	CGA		0.383	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
CFAP61	26074	broad.mit.edu	37	20	20278850	20278850	+	Missense_Mutation	SNP	C	C	T	rs189288996	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:20278850C>T	ENST00000245957.5	+	25	3318	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1081								p.A1081V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACCGGCAGTGCGAAAAATGGG	0.423																																					p.A1081V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3242T	20						.						75.0	75.0	75.0					20																	20278850		2203	4300	6503	20226850	SO:0001583	missense	26074	exon25																														ENST00000245957.5:c.3242C>T	20.37:g.20278850C>T	ENSP00000245957:p.Ala1081Val		20226850	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675759	0.29783	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.46063	0.88	5.27	-0.251	0.13003	.	0.338388	0.30193	N	0.010197	T	0.32496	0.0831	L	0.54323	1.7	0.40981	D	0.984779	B	0.21821	0.061	B	0.17098	0.017	T	0.10660	-1.0620	10	0.25106	T	0.35	.	9.5984	0.39589	0.0:0.635:0.0:0.365	.	1081	Q8NHU2	CT026_HUMAN	V	1021;1047;1081	ENSP00000245957:A1081V	ENSP00000245957:A1081V	A	+	2	0	C20orf26	20226850	0.061000	0.20836	0.000000	0.03702	0.017000	0.09413	0.574000	0.23714	-0.189000	0.10482	-0.136000	0.14681	GCG		0.423	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
CPXM1	56265	broad.mit.edu	37	20	2779472	2779472	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:2779472C>A	ENST00000380605.2	-	2	304	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	80					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K80N(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGTTAGCTTCTTCCGCTTCT	0.567																																					p.K80N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G240T	20						.						144.0	143.0	143.0					20																	2779472		2203	4300	6503	2727472	SO:0001583	missense	56265	exon2			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.240G>T	20.37:g.2779472C>A	ENSP00000369979:p.Lys80Asn		2727472	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996111	0.74703	.	.	ENSG00000088882	ENST00000380605	D	0.95949	-3.86	4.75	4.75	0.60458	.	0.135079	0.29225	N	0.012764	D	0.91653	0.7362	L	0.27053	0.805	0.37516	D	0.917343	B;B	0.29301	0.241;0.241	B;B	0.33454	0.164;0.164	D	0.91763	0.5421	10	0.54805	T	0.06	-31.5535	13.1188	0.59314	0.0:1.0:0.0:0.0	.	80;80	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	N	80	ENSP00000369979:K80N	ENSP00000369979:K80N	K	-	3	2	CPXM1	2727472	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	1.425000	0.34859	2.479000	0.83701	0.563000	0.77884	AAG		0.567	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
RNA5SP477	100873719	broad.mit.edu	37	20	21117112	21117112	+	RNA	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:21117112A>C	ENST00000362639.1	-	0	119									RNA, 5S ribosomal pseudogene 477																		CTCGAAACCAAGAATATTTAA	0.338																																					p.Q78H												.	.	0			c.A234C	20						.						76.0	69.0	71.0					20																	21117112		1833	4088	5921	21065112			55857	exon3					20p11.23	2012-08-07	2012-08-09	2012-08-09	ENSG00000199509	ENSG00000199509			43377	pseudogene	RNA, pseudogene			"""RNA, 5S ribosomal 477"""	RN5S477			Standard	NG_033710		Approved						20.37:g.21117112A>C			21065112	NM_018474		Missense_Mutation	SNP	ENST00000362639.1	37																																																																																					0.338	RNA5SP477-201	KNOWN	basic	rRNA	rRNA			
KIF3B	9371	broad.mit.edu	37	20	30898370	30898370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:30898370G>T	ENST00000375712.3	+	2	957	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	264	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.E264*(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGATTAAAAGAAGCTACCAA	0.493																																					p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	20						.						89.0	85.0	86.0					20																	30898370		2203	4300	6503	30362031	SO:0001587	stop_gained	9371	exon2			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.790G>T	20.37:g.30898370G>T	ENSP00000364864:p.Glu264*		30362031	NM_004798	B2RMP4|B4DSR5|E1P5M5	Nonsense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	38	6.919954	0.97936	.	.	ENSG00000101350	ENST00000375712	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4488	0.87586	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000364864:E264X	E	+	1	0	KIF3B	30362031	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.657000	0.98554	2.336000	0.79503	0.462000	0.41574	GAA		0.493	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798	
ASXL1	171023	broad.mit.edu	37	20	31020765	31020765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:31020765C>A	ENST00000375687.4	+	11	1486	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	ASXL1_ENST00000306058.5_Missense_Mutation_p.F349L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	354	Interaction with KDM1A. {ECO:0000250}.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.F354L(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAGAAAAGTTCTTTGAAGACT	0.418			"""F, N, Mis"""		"""MDS, CMML"""																																p.F354L			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1062A	20						.						96.0	93.0	94.0					20																	31020765		2203	4300	6503	30484426	SO:0001583	missense	171023	exon10			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1062C>A	20.37:g.31020765C>A	ENSP00000364839:p.Phe354Leu		30484426	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429351	0.62844	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.33216	1.44;1.42	4.6	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	L	0.59436	1.845	0.58432	D	0.99999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.996;0.999	T	0.41592	-0.9500	10	0.62326	D	0.03	-7.7604	10.4924	0.44758	0.0:0.842:0.0:0.158	.	349;354	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	L	354;354;354;293;349;126	ENSP00000364839:F354L;ENSP00000305119:F349L	ENSP00000305119:F349L	F	+	3	2	ASXL1	30484426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.363000	0.44178	0.563000	0.29222	0.561000	0.74099	TTC		0.418	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
ASXL1	171023	broad.mit.edu	37	20	31023615	31023615	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:31023615A>G	ENST00000375687.4	+	13	3524	c.3100A>G	c.(3100-3102)Aaa>Gaa	p.K1034E	ASXL1_ENST00000306058.5_Missense_Mutation_p.K1029E	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1034					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K1034E(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAAGGATGAGAAACCCAATTG	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																p.K1034E			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3100G	20						.						219.0	183.0	195.0					20																	31023615		2203	4300	6503	30487276	SO:0001583	missense	171023	exon12			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3100A>G	20.37:g.31023615A>G	ENSP00000364839:p.Lys1034Glu		30487276	NM_015338	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914830	0.17907	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.25085	1.82;1.82	4.32	4.32	0.51571	.	0.468058	0.24162	N	0.040969	T	0.15089	0.0364	L	0.34521	1.04	0.09310	N	1	B;B	0.24721	0.11;0.11	B;B	0.20577	0.03;0.03	T	0.18777	-1.0326	10	0.13108	T	0.6	-2.6869	6.0685	0.19875	0.7466:0.1657:0.0876:0.0	.	1029;1034	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	E	1034;1034;1034;955;1029	ENSP00000364839:K1034E;ENSP00000305119:K1029E	ENSP00000305119:K1029E	K	+	1	0	ASXL1	30487276	0.078000	0.21339	0.090000	0.20809	0.094000	0.18550	2.874000	0.48483	2.174000	0.68829	0.459000	0.35465	AAA		0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
DNMT3B	1789	broad.mit.edu	37	20	31383464	31383464	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:31383464G>A	ENST00000328111.2	+	12	1582	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	DNMT3B_ENST00000375623.4_Nonsense_Mutation_p.W310*|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A359T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A413T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A325T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A401T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A401T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A401T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	421					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.A413T(1)|p.A421T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGAACAAATGGCTTCAGATGT	0.532																																					p.A401T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1201A	20						.						119.0	102.0	108.0					20																	31383464		2203	4300	6503	30847125	SO:0001583	missense	1789	exon11				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1261G>A	20.37:g.31383464G>A	ENSP00000328547:p.Ala421Thr		30847125	NM_175848	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	CCDS13205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.87|19.87	3.906854|3.906854	0.72868|0.72868	.|.	.|.	ENSG00000088305|ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963|ENST00000375623	D;D;D;D;D;D;D|.	0.96802|.	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.241171|.	0.41605|.	D|.	0.000844|.	T|.	0.63721|.	0.2535|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	A|A	1|1	P;P;B;B;P;B;B|.	0.37985|.	0.478;0.478;0.243;0.356;0.613;0.356;0.349|.	B;B;B;B;B;B;B|.	0.41271|.	0.191;0.191;0.09;0.185;0.352;0.185;0.108|.	T|.	0.70842|.	-0.4762|.	9|.	0.59425|0.66056	D|D	0.04|0.02	-6.9251|-6.9251	16.2076|16.2076	0.82138|0.82138	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	325;359;120;413;401;401;421|.	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3|.	.;.;.;.;.;.;DNM3B_HUMAN|.	T|X	421;487;401;401;359;325;401;413|310	ENSP00000328547:A421T;ENSP00000313397:A401T;ENSP00000337764:A401T;ENSP00000403169:A359T;ENSP00000412305:A325T;ENSP00000345105:A401T;ENSP00000201963:A413T|.	ENSP00000201963:A413T|ENSP00000364774:W310X	A|W	+|+	1|3	0|0	DNMT3B|DNMT3B	30847125|30847125	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.242000|0.242000	0.25591|0.25591	5.388000|5.388000	0.66249|0.66249	2.687000|2.687000	0.91594|0.91594	0.563000|0.563000	0.77884|0.77884	GCT|TGG		0.532	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
TGM2	7052	broad.mit.edu	37	20	36759606	36759606	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:36759606C>T	ENST00000361475.2	-	12	1975	c.1802G>A	c.(1801-1803)cGc>cAc	p.R601H	TGM2_ENST00000536701.1_Missense_Mutation_p.R520H|TGM2_ENST00000536724.1_Missense_Mutation_p.R541H	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	601					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R601H(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACCAGCTTGCGTTTCTGCTT	0.622																																					p.R601H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1802A	20						.						89.0	81.0	84.0					20																	36759606		2203	4300	6503	36193020	SO:0001583	missense	7052	exon12			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1802G>A	20.37:g.36759606C>T	ENSP00000355330:p.Arg601His		36193020	NM_004613	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761313	0.89932	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.69040	-0.37;-0.37;-0.37	5.06	4.11	0.48088	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.175763	0.49916	D	0.000125	T	0.81678	0.4873	M	0.85630	2.765	0.54753	D	0.999984	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.976;0.987;0.986;0.989;0.991	D	0.84290	0.0499	10	0.72032	D	0.01	-42.8195	11.9835	0.53133	0.0:0.9167:0.0:0.0833	.	541;520;541;601;7	F5H6P0;B4DIT7;B4DTN7;P21980;Q6DKH2	.;.;.;TGM2_HUMAN;.	H	601;520;541	ENSP00000355330:R601H;ENSP00000444701:R520H;ENSP00000437479:R541H	ENSP00000355330:R601H	R	-	2	0	TGM2	36193020	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.608000	0.61141	2.337000	0.79520	0.561000	0.74099	CGC		0.622	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
TOP1	7150	broad.mit.edu	37	20	39744918	39744918	+	Splice_Site	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:39744918A>C	ENST00000361337.2	+	17	1958	c.1708A>C	c.(1708-1710)Act>Cct	p.T570P	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	570					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.T570P(1)		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)	TCTCCTCCAGACTGGTATTCT	0.463			T	NUP98	AML*																																p.T570P			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1708C	20						.						87.0	76.0	79.0					20																	39744918		2203	4300	6503	39178332	SO:0001630	splice_region_variant	7150	exon17				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.1708-1A>C	20.37:g.39744918A>C			39178332	NM_003286	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119079	0.94385	.	.	ENSG00000198900	ENST00000361337	T	0.44083	0.93	5.87	5.87	0.94306	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64588	-0.6372	9	.	.	.	-13.6266	16.5764	0.84681	1.0:0.0:0.0:0.0	.	570	P11387	TOP1_HUMAN	P	570	ENSP00000354522:T570P	.	T	+	1	0	TOP1	39178332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ACT		0.463	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		Missense_Mutation
PTPRT	11122	broad.mit.edu	37	20	41100972	41100972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:41100972G>T	ENST00000373187.1	-	8	1383	c.1384C>A	c.(1384-1386)Ctc>Atc	p.L462I	PTPRT_ENST00000373190.1_Missense_Mutation_p.L462I|PTPRT_ENST00000373193.3_Missense_Mutation_p.L462I|PTPRT_ENST00000373184.1_Missense_Mutation_p.L462I|PTPRT_ENST00000373198.4_Missense_Mutation_p.L462I|PTPRT_ENST00000356100.2_Missense_Mutation_p.L462I|PTPRT_ENST00000373201.1_Missense_Mutation_p.L462I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	462	Fibronectin type-III 2. {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.L462I(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)				GACAGCAAGAGTCGCAGCCGG	0.612																																					p.L462I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1384A	20						.						56.0	61.0	60.0					20																	41100972		2137	4245	6382	40534386	SO:0001583	missense	11122	exon8			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.1384C>A	20.37:g.41100972G>T	ENSP00000362283:p.Leu462Ile		40534386	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936013	0.52972	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.28	4.27	0.50696	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.069253	0.64402	D	0.000013	T	0.60431	0.2268	M	0.75615	2.305	0.49130	D	0.999751	P;P	0.42649	0.786;0.68	P;P	0.57679	0.825;0.672	T	0.59915	-0.7364	10	0.42905	T	0.14	.	7.8276	0.29324	0.1239:0.0:0.7297:0.1464	.	462;462	O14522-1;O14522	.;PTPRT_HUMAN	I	462	ENSP00000362286:L462I;ENSP00000362283:L462I;ENSP00000362289:L462I;ENSP00000348408:L462I;ENSP00000362294:L462I;ENSP00000362280:L462I;ENSP00000362297:L462I	ENSP00000348408:L462I	L	-	1	0	PTPRT	40534386	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.263000	0.51546	2.480000	0.83734	0.455000	0.32223	CTC		0.612	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
RIMS4	140730	broad.mit.edu	37	20	43386386	43386386	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:43386386G>A	ENST00000372851.3	-	4	442	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	RIMS4_ENST00000541604.2_Missense_Mutation_p.R127W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	126	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.R126W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGACCGTTCCGCTCCTGCAGA	0.567																																					p.R126W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	20						.						118.0	94.0	102.0					20																	43386386		2203	4300	6503	42819800	SO:0001583	missense	140730	exon4				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.376C>T	20.37:g.43386386G>A	ENSP00000361942:p.Arg126Trp		42819800	NM_182970	A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688146	0.68271	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.79141	-1.24;-1.24	5.91	4.89	0.63831	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.84433	2.695	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	P;D	0.63793	0.772;0.918	D	0.89645	0.3865	10	0.87932	D	0	.	15.8828	0.79216	0.0:0.0:0.7778:0.2222	.	127;126	E1P613;Q9H426	.;RIMS4_HUMAN	W	126;127	ENSP00000361942:R126W;ENSP00000439287:R127W	ENSP00000361942:R126W	R	-	1	2	RIMS4	42819800	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.181000	0.58303	2.802000	0.96397	0.655000	0.94253	CGG		0.567	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
SEMG2	6407	broad.mit.edu	37	20	43851053	43851053	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:43851053C>T	ENST00000372769.3	+	2	870	c.780C>T	c.(778-780)ctC>ctT	p.L260L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	260	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.L260L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGATGAGCTCCTAGTATATA	0.413																																					p.L260L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	20						.						105.0	105.0	105.0					20																	43851053		2203	4300	6503	43284467	SO:0001819	synonymous_variant	6407	exon2				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.780C>T	20.37:g.43851053C>T			43284467	NM_003008	Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	ENST00000372769.3	37	CCDS13346.1																																																																																				0.413	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
ZNF334	55713	broad.mit.edu	37	20	45132940	45132940	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:45132940G>T	ENST00000347606.4	-	4	336	c.154C>A	c.(154-156)Cat>Aat	p.H52N	ZNF334_ENST00000593880.1_Missense_Mutation_p.H75N|ZNF334_ENST00000457685.2_Missense_Mutation_p.H14N	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	52	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.H52N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTGCTAACATGATACCCTGTT	0.398																																					p.H52N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154A	20						.						92.0	77.0	82.0					20																	45132940		2203	4300	6503	44566347	SO:0001583	missense	55713	exon4			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.154C>A	20.37:g.45132940G>T	ENSP00000255129:p.His52Asn		44566347	NM_018102	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	2.105	-0.405247	0.04832	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.40476	5.69;1.03	3.0	0.892	0.19230	Krueppel-associated box (3);	.	.	.	.	T	0.26882	0.0658	L	0.35542	1.07	0.09310	N	1	B;B;B	0.20261	0.024;0.024;0.043	B;B;B	0.21151	0.023;0.023;0.033	T	0.26430	-1.0103	9	0.18276	T	0.48	.	5.8506	0.18691	0.1201:0.1967:0.6832:0.0	.	14;52;75	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	N	14;52	ENSP00000402582:H14N;ENSP00000255129:H52N	ENSP00000255129:H52N	H	-	1	0	ZNF334	44566347	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	-0.613000	0.05610	0.113000	0.18004	0.591000	0.81541	CAT		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
SLC9A8	23315	broad.mit.edu	37	20	48456127	48456127	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:48456127G>A	ENST00000361573.2	+	4	381	c.339G>A	c.(337-339)gcG>gcA	p.A113A	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000417961.1_Silent_p.A113A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	113					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.A113A(2)		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)			AAAAACTGGCGAATTGGAAGG	0.299																																					p.A113A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G339A	20						.						76.0	83.0	80.0					20																	48456127		2203	4300	6503	47889534	SO:0001819	synonymous_variant	23315	exon4			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.339G>A	20.37:g.48456127G>A			47889534	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																				0.299	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
PCNA	5111	broad.mit.edu	37	20	5099467	5099467	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:5099467T>G	ENST00000379160.3	-	3	509	c.267A>C	c.(265-267)acA>acC	p.T89T	SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Silent_p.T89T	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	89	Interaction with NUDT15.				base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|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)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)	p.T89T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CGGCCCTTAGTGTAATGATAT	0.433								DNA polymerases (catalytic subunits)																													p.T89T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A267C	20						.						231.0	223.0	226.0					20																	5099467		2203	4300	6503	5047467	SO:0001819	synonymous_variant	5111	exon3			J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.267A>C	20.37:g.5099467T>G			5047467	NM_002592	B2R897|D3DW02	Silent	SNP	ENST00000379160.3	37	CCDS13087.1																																																																																				0.433	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2		
SLC9A8	23315	broad.mit.edu	37	20	48472087	48472087	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:48472087C>A	ENST00000361573.2	+	8	724	c.682C>A	c.(682-684)Ctc>Atc	p.L228I	SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Missense_Mutation_p.L9I|SLC9A8_ENST00000417961.1_Missense_Mutation_p.L244I			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	228					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.L228I(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)			AGAAAGTATTCTCAACGATGC	0.463																																					p.L228I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C682A	20						.						131.0	112.0	118.0					20																	48472087		2203	4300	6503	47905494	SO:0001583	missense	23315	exon8			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.682C>A	20.37:g.48472087C>A	ENSP00000354966:p.Leu228Ile		47905494	NM_015266	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089107	0.94100	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000539601	T;T;T	0.17528	2.27;2.27;2.27	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.65919	-0.6051	10	0.87932	D	0	.	19.2019	0.93714	0.0:1.0:0.0:0.0	.	228	Q9Y2E8	SL9A8_HUMAN	I	244;228;9	ENSP00000416418:L244I;ENSP00000354966:L228I;ENSP00000441716:L9I	ENSP00000354966:L228I	L	+	1	0	SLC9A8	47905494	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.947000	0.70242	2.598000	0.87819	0.650000	0.86243	CTC		0.463	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
RTFDC1	51507	broad.mit.edu	37	20	55049745	55049745	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:55049745A>G	ENST00000023939.4	+	3	283	c.176A>G	c.(175-177)aAa>aGa	p.K59R	RTFDC1_ENST00000357348.5_Missense_Mutation_p.K89R|RTFDC1_ENST00000395881.3_Missense_Mutation_p.K59R|snoU13_ENST00000459416.1_RNA	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	59								p.K59R(1)									CTTTATAACAAAGATGCCGTC	0.358																																					p.K59R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A176G	20						.						120.0	126.0	124.0					20																	55049745		2203	4300	6503	54483152	SO:0001583	missense	51507	exon3			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.176A>G	20.37:g.55049745A>G	ENSP00000023939:p.Lys59Arg		54483152	NM_016407	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	SNP	ENST00000023939.4	37	CCDS13453.1	.	.	.	.	.	.	.	.	.	.	A	32	5.165389	0.94768	.	.	ENSG00000022277	ENST00000023939;ENST00000395881;ENST00000357348;ENST00000449062	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;D;D	0.97110	1.0;0.999;0.963;1.0	T	0.74743	-0.3562	10	0.59425	D	0.04	-28.7749	16.3141	0.82909	1.0:0.0:0.0:0.0	.	89;59;59;59	A8MSH5;A2A2L6;B2RB99;Q9BY42	.;.;.;CT043_HUMAN	R	59;59;89;89	ENSP00000023939:K59R;ENSP00000379220:K59R;ENSP00000349906:K89R;ENSP00000400322:K89R	ENSP00000023939:K59R	K	+	2	0	C20orf43	54483152	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.285000	0.89914	2.326000	0.78906	0.533000	0.62120	AAA		0.358	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407	
CTCFL	140690	broad.mit.edu	37	20	56090847	56090847	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:56090847C>T	ENST00000608263.1	-	5	1764	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	CTCFL_ENST00000502686.2_Missense_Mutation_p.R106H|CTCFL_ENST00000371196.2_Missense_Mutation_p.R368H|CTCFL_ENST00000608440.1_Missense_Mutation_p.R368H|CTCFL_ENST00000429804.3_Missense_Mutation_p.R368H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R368H|CTCFL_ENST00000608425.1_Missense_Mutation_p.R368H|CTCFL_ENST00000423479.3_Missense_Mutation_p.R368H|CTCFL_ENST00000539382.1_Missense_Mutation_p.R163H|CTCFL_ENST00000433949.3_Missense_Mutation_p.R163H|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.R368H|CTCFL_ENST00000608903.1_Missense_Mutation_p.R106H|CTCFL_ENST00000609232.1_Missense_Mutation_p.R368H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	368					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.R368H(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)			CTGAAAGGGGCGCTCCCCAGT	0.478																																					p.R368H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1103A	20						.						168.0	160.0	162.0					20																	56090847		2203	4300	6503	55524253	SO:0001583	missense	140690	exon6				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.1103G>A	20.37:g.56090847C>T	ENSP00000476783:p.Arg368His		55524253	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	34	5.309861	0.95629	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;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;2.08;2.08	5.24	5.24	0.73138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000406	T	0.46073	0.1374	M	0.64260	1.97	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	T	0.39418	-0.9615	10	0.72032	D	0.01	-44.5807	17.9608	0.89084	0.0:1.0:0.0:0.0	.	368;368;368;368;368	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	368;368;368;368;368;106;368;368;163;368	ENSP00000415579:R368H;ENSP00000243914:R368H;ENSP00000360239:R368H;ENSP00000415329:R368H;ENSP00000392034:R368H;ENSP00000437999:R106H;ENSP00000413713:R368H;ENSP00000403369:R368H;ENSP00000439998:R163H;ENSP00000399061:R368H	ENSP00000243914:R368H	R	-	2	0	CTCFL	55524253	1.000000	0.71417	0.949000	0.38748	0.796000	0.44982	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	CGC		0.478	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
PCK1	5105	broad.mit.edu	37	20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:56139236G>A	ENST00000319441.4	+	7	1137	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_ENST00000535860.1_Missense_Mutation_p.A193T|PCK1_ENST00000543666.1_Missense_Mutation_p.A8T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	325					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.A325T(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448																																					p.A325T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	20						.						59.0	58.0	58.0					20																	56139236		2203	4300	6503	55572642	SO:0001583	missense	5105	exon7				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.973G>A	20.37:g.56139236G>A	ENSP00000319814:p.Ala325Thr		55572642	NM_002591	A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404074	0.83230	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.21191	2.02;2.02;2.02	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80719	-0.1257	10	0.87932	D	0	-21.2458	19.6793	0.95956	0.0:0.0:1.0:0.0	.	8;325	B4DT64;P35558	.;PCKGC_HUMAN	T	7;325;8;193	ENSP00000319814:A325T;ENSP00000445767:A8T;ENSP00000444342:A193T	ENSP00000319814:A325T	A	+	1	0	PCK1	55572642	1.000000	0.71417	0.998000	0.56505	0.326000	0.28443	9.282000	0.95840	2.713000	0.92767	0.655000	0.94253	GCC		0.448	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
ZBP1	81030	broad.mit.edu	37	20	56185363	56185363	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:56185363G>T	ENST00000371173.3	-	7	1112	c.935C>A	c.(934-936)aCt>aAt	p.T312N	ZBP1_ENST00000340462.4_Missense_Mutation_p.T289N|ZBP1_ENST00000343535.4_Missense_Mutation_p.T312N|ZBP1_ENST00000395822.3_Missense_Mutation_p.T237N	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	312					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.T312N(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)			CTCAGGGTGAGTTCCTGGACT	0.577																																					p.T311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932A	20						.						174.0	190.0	184.0					20																	56185363		2203	4300	6503	55618769	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.935C>A	20.37:g.56185363G>T	ENSP00000360215:p.Thr312Asn		55618769	NM_001160417	A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529522	0.27387	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	T;T;T;T	0.12569	3.04;2.67;3.04;3.0	4.03	1.84	0.25277	.	0.783334	0.10889	N	0.622963	T	0.08935	0.0221	L	0.36672	1.1	0.09310	N	1	B;B;P	0.34977	0.312;0.005;0.478	B;B;B	0.25987	0.036;0.005;0.065	T	0.26883	-1.0090	10	0.56958	D	0.05	-3.0645	4.7394	0.13005	0.1235:0.225:0.6515:0.0	.	312;237;312	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	N	312;237;289;312;312	ENSP00000360215:T312N;ENSP00000379167:T237N;ENSP00000344954:T289N;ENSP00000340584:T312N	ENSP00000344954:T289N	T	-	2	0	ZBP1	55618769	0.007000	0.16637	0.001000	0.08648	0.004000	0.04260	1.644000	0.37228	0.994000	0.38892	0.491000	0.48974	ACT		0.577	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776	
ZNF831	128611	broad.mit.edu	37	20	57768921	57768921	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:57768921G>T	ENST00000371030.2	+	1	2847	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	949							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E949D(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCAGGCAGAGACCCCCTTAC	0.602																																					p.E949D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2847T	20						.						87.0	88.0	88.0					20																	57768921		2008	4171	6179	57202316	SO:0001583	missense	128611	exon1			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2847G>T	20.37:g.57768921G>T	ENSP00000360069:p.Glu949Asp		57202316	NM_178457	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503225	0.12822	.	.	ENSG00000124203	ENST00000371030	T	0.05447	3.44	5.05	0.658	0.17855	.	0.373374	0.23266	N	0.050066	T	0.05090	0.0136	L	0.40543	1.245	0.09310	N	1	B	0.25521	0.128	B	0.23275	0.045	T	0.34354	-0.9832	10	0.39692	T	0.17	-13.948	6.368	0.21465	0.1576:0.2823:0.56:0.0	.	949	Q5JPB2	ZN831_HUMAN	D	949	ENSP00000360069:E949D	ENSP00000360069:E949D	E	+	3	2	ZNF831	57202316	.	.	0.041000	0.18516	0.485000	0.33311	.	.	-0.026000	0.13895	0.655000	0.94253	GAG		0.602	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
CHGB	1114	broad.mit.edu	37	20	5903440	5903440	+	Missense_Mutation	SNP	C	C	T	rs560272361		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:5903440C>T	ENST00000378961.4	+	4	854	c.650C>T	c.(649-651)tCg>tTg	p.S217L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	217						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.S217L(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGGCCAGATCGGAAACACAT	0.498																																					p.S217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650T	20						.						55.0	61.0	59.0					20																	5903440		2203	4300	6503	5851440	SO:0001583	missense	1114	exon4				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.650C>T	20.37:g.5903440C>T	ENSP00000368244:p.Ser217Leu		5851440	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635663	0.14322	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.04970	3.52;4.9	5.57	-0.924	0.10462	.	1.420380	0.04885	N	0.448430	T	0.03783	0.0107	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.44159	-0.9346	10	0.19590	T	0.45	-0.2802	0.2008	0.00145	0.3654:0.209:0.1978:0.2279	.	217	P05060	SCG1_HUMAN	L	217;197	ENSP00000368244:S217L;ENSP00000416643:S197L	ENSP00000368244:S217L	S	+	2	0	CHGB	5851440	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.629000	0.24538	-0.086000	0.12550	0.563000	0.77884	TCG		0.498	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
FAM217B	63939	broad.mit.edu	37	20	58519083	58519083	+	Missense_Mutation	SNP	G	G	A	rs200508394		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:58519083G>A	ENST00000358293.3	+	5	500	c.85G>A	c.(85-87)Gct>Act	p.A29T	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.A29T	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	29								p.A29T(1)									AGTACCCCACGCTTCTTCCCA	0.453																																					p.A29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	20						.						49.0	50.0	49.0					20																	58519083		2203	4300	6503	57952478	SO:0001583	missense	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.85G>A	20.37:g.58519083G>A	ENSP00000351040:p.Ala29Thr		57952478	NM_001190826	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.497217	0.26861	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.30714	1.52;1.52	5.46	-6.8	0.01709	.	1.144810	0.06668	N	0.765698	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	P	0.35612	0.512	B	0.22386	0.039	T	0.23762	-1.0179	10	0.59425	D	0.04	-0.0836	3.1458	0.06471	0.522:0.2218:0.1444:0.1119	.	29	Q9NTX9	CT177_HUMAN	T	29	ENSP00000351040:A29T;ENSP00000354056:A29T	ENSP00000351040:A29T	A	+	1	0	C20orf177	57952478	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.036000	0.13819	-0.836000	0.04229	-0.136000	0.14681	GCT		0.453	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
TAF4	6874	broad.mit.edu	37	20	60584202	60584202	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:60584202T>G	ENST00000252996.4	-	5	1789	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	597	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K597T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TAGGAAATTTTTACATTTCTT	0.353																																					p.K597T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1790C	20						.						78.0	79.0	79.0					20																	60584202		2203	4300	6503	60017597	SO:0001583	missense	6874	exon5			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1790A>C	20.37:g.60584202T>G	ENSP00000252996:p.Lys597Thr		60017597	NM_003185	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.771128	0.69992	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.52754	0.65;0.65	5.15	5.15	0.70609	TAFH/NHR1 (3);	0.109901	0.64402	D	0.000016	T	0.60483	0.2272	M	0.85710	2.77	0.53688	D	0.999972	P	0.46987	0.888	P	0.48627	0.584	T	0.63849	-0.6544	10	0.30078	T	0.28	-15.5144	14.9411	0.70994	0.0:0.0:0.0:1.0	.	597	O00268	TAF4_HUMAN	T	597;461	ENSP00000252996:K597T;ENSP00000399091:K461T	ENSP00000252996:K597T	K	-	2	0	TAF4	60017597	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.040000	0.49799	1.930000	0.55929	0.459000	0.35465	AAA		0.353	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
ZNF512B	57473	broad.mit.edu	37	20	62614401	62614401	+	Intron	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:62614401G>A	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Splice_Site_p.A25T|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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.A25T(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTCCTGCAGCGCCACTGGCTT	0.557																																					p.A25T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G73A	20						.						37.0	34.0	35.0					20																	62614401		2203	4300	6503	62084845	SO:0001627	intron_variant	24148	exon2			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-15093C>T	20.37:g.62614401G>A			62084845	NM_012469	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065722	0.76187	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	D;D	0.88124	-2.29;-2.34	4.78	4.78	0.61160	PRP1 splicing factor, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95787	0.8629	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	0.97443	1.0023	10	0.87932	D	0	-14.1554	17.8432	0.88721	0.0:0.0:1.0:0.0	.	25;25	O94906-2;O94906	.;PRP6_HUMAN	T	25	ENSP00000266079:A25T;ENSP00000446216:A25T	ENSP00000266079:A25T	A	+	1	0	PRPF6	62084845	1.000000	0.71417	0.945000	0.38365	0.100000	0.18952	9.608000	0.98331	2.219000	0.72066	0.585000	0.79938	GCC		0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
MYT1	4661	broad.mit.edu	37	20	62839225	62839225	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr20:62839225G>A	ENST00000328439.1	+	7	1040	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	MYT1_ENST00000536311.1_Missense_Mutation_p.E226K|MYT1_ENST00000360149.4_Intron	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	
TRAF3	7187	broad.mit.edu	37	14	103341988	103341988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:103341988G>T	ENST00000560371.1	+	4	542	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	TRAF3_ENST00000351691.5_Nonsense_Mutation_p.E109*|TRAF3_ENST00000392745.2_Nonsense_Mutation_p.E109*|TRAF3_ENST00000539721.1_Nonsense_Mutation_p.E109*|TRAF3_ENST00000347662.4_Nonsense_Mutation_p.E109*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	109					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|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)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E109*(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CTGCAAGAGAGAAATTCTGGC	0.413																																					p.E109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G325T	14						.						131.0	129.0	129.0					14																	103341988		2203	4300	6503	102411741	SO:0001587	stop_gained	7187	exon5			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.325G>T	14.37:g.103341988G>T	ENSP00000454207:p.Glu109*		102411741	NM_145725	B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Nonsense_Mutation	SNP	ENST00000560371.1	37	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	G	40	8.447058	0.98815	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-51.4831	19.5463	0.95299	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000328003:E109X	E	+	1	0	TRAF3	102411741	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.570000	0.90748	2.679000	0.91253	0.655000	0.94253	GAA		0.413	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	
MARK3	4140	broad.mit.edu	37	14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:103918266G>A	ENST00000429436.2	+	5	868	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000553942.1_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E120K(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353																																					p.E120K												.	.	4	Substitution - Missense(4)	prostate(2)|ovary(1)|large_intestine(1)	c.G358A	14						.						171.0	168.0	169.0					14																	103918266		1851	4107	5958	102988019	SO:0001583	missense	4140	exon5			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.358G>A	14.37:g.103918266G>A	ENSP00000411397:p.Glu120Lys		102988019	NM_001128919	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086533	0.76642	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T;T	0.26223	1.75;3.07;1.75;1.75;1.75;1.75;1.75	5.89	5.89	0.94794	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	0.53449	0.1797	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.87578	0.903;0.997;0.998;0.998;0.993;0.996	T	0.51957	-0.8639	10	0.72032	D	0.01	.	19.0276	0.92939	0.0:0.0:1.0:0.0	.	120;120;120;120;120;120	P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;MARK3_HUMAN;.;.;.	K	120	ENSP00000335347:E120K;ENSP00000402104:E120K;ENSP00000408092:E120K;ENSP00000411397:E120K;ENSP00000303698:E120K;ENSP00000216288:E120K;ENSP00000450772:E120K	ENSP00000216288:E120K	E	+	1	0	MARK3	102988019	1.000000	0.71417	0.999000	0.59377	0.020000	0.10135	8.655000	0.91098	2.797000	0.96272	0.563000	0.77884	GAA		0.353	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
BAG5	9529	broad.mit.edu	37	14	104026187	104026187	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:104026187C>T	ENST00000445922.2	-	2	1561	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	BAG5_ENST00000337322.4_Missense_Mutation_p.D480N|BAG5_ENST00000299204.4_Missense_Mutation_p.D439N|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	439	BAG 5. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.D439N(2)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			GATTTCAGGTCGAGATAGCTG	0.453																																					p.D439N	NSCLC(171;1832 2055 18950 31566 41632)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1315A	14						.						125.0	122.0	123.0					14																	104026187		2203	4300	6503	103095940	SO:0001583	missense	9529	exon2			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.1315G>A	14.37:g.104026187C>T	ENSP00000391713:p.Asp439Asn		103095940	NM_001015048	O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314606	0.95655	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	D;D;D	0.96104	-3.91;-3.91;-3.91	5.87	5.87	0.94306	BAG domain (3);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97641	1.0148	10	0.87932	D	0	-44.4964	20.5827	0.99408	0.0:1.0:0.0:0.0	.	439;480	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	N	439;439;480	ENSP00000299204:D439N;ENSP00000391713:D439N;ENSP00000338814:D480N	ENSP00000299204:D439N	D	-	1	0	BAG5	103095940	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.195000	0.77798	2.941000	0.99782	0.655000	0.94253	GAC		0.453	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1		
OR4M1	441670	broad.mit.edu	37	14	20248760	20248760	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:20248760C>A	ENST00000315957.4	+	1	360	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAATTTCCTTTGGTGGAT	0.448																																					p.S93S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279A	14						.						252.0	273.0	266.0					14																	20248760		2203	4300	6503	19318600	SO:0001819	synonymous_variant	441670	exon1				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.279C>A	14.37:g.20248760C>A			19318600	NM_001005500	B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	CCDS32021.1																																																																																				0.448	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1		
OR4K2	390431	broad.mit.edu	37	14	20344641	20344641	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:20344641C>A	ENST00000298642.2	+	1	251	c.215C>A	c.(214-216)tCt>tAt	p.S72Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S72Y(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)		ATTGATATGTCTCTTGCTTCT	0.423																																					p.S72Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215A	14						.						327.0	313.0	318.0					14																	20344641		2203	4300	6503	19414481	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.215C>A	14.37:g.20344641C>A	ENSP00000298642:p.Ser72Tyr		19414481	NM_001005501	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	11.95	1.790684	0.31685	.	.	ENSG00000165762	ENST00000298642	T	0.00428	7.44	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.143255	0.32640	N	0.005821	T	0.00356	0.0011	L	0.38531	1.155	0.28118	N	0.930715	B	0.29301	0.241	B	0.31390	0.129	T	0.50725	-0.8794	10	0.52906	T	0.07	.	12.012	0.53293	0.0:0.8262:0.1738:0.0	.	72	Q8NGD2	OR4K2_HUMAN	Y	72	ENSP00000298642:S72Y	ENSP00000298642:S72Y	S	+	2	0	OR4K2	19414481	0.015000	0.18098	1.000000	0.80357	0.988000	0.76386	1.920000	0.40025	2.740000	0.93945	0.563000	0.77884	TCT		0.423	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
CHD8	57680	broad.mit.edu	37	14	21869225	21869225	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:21869225A>C	ENST00000557364.1	-	22	4442	c.4179T>G	c.(4177-4179)aaT>aaG	p.N1393K	CHD8_ENST00000399982.2_Missense_Mutation_p.N1393K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.N1114K			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1393					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.N1393K(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)		CAATTACCAAATTATTCTATG	0.378																																					p.N1114K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3342G	14						.						93.0	88.0	89.0					14																	21869225		1885	4122	6007	20939065	SO:0001583	missense	57680	exon22			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.4179T>G	14.37:g.21869225A>C	ENSP00000451601:p.Asn1393Lys		20939065	NM_020920	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.606|3.606	-0.080582|-0.080582	0.07141|0.07141	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.83419	.|-1.72;-1.72;-1.72	5.04|5.04	1.13|1.13	0.20643|0.20643	.|.	.|0.056851	.|0.64402	.|D	.|0.000001	T|T	0.70228|0.70228	0.3200|0.3200	L|L	0.33485|0.33485	1.01|1.01	0.34349|0.34349	D|D	0.689659|0.689659	.|B;B	.|0.18610	.|0.006;0.029	.|B;B	.|0.22386	.|0.008;0.039	T|T	0.61461|0.61461	-0.7058|-0.7058	5|10	.|0.20046	.|T	.|0.44	-18.0977|-18.0977	8.2184|8.2184	0.31526|0.31526	0.4226:0.0:0.5774:0.0|0.4226:0.0:0.5774:0.0	.|.	.|1393;1114	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	V|K	619|1114;1393;1113;1393	.|ENSP00000406288:N1114K;ENSP00000382863:N1393K;ENSP00000451601:N1393K	.|ENSP00000262707:N1113K	F|N	-|-	1|3	0|2	CHD8|CHD8	20939065|20939065	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.907000|0.907000	0.53573|0.53573	0.918000|0.918000	0.28678|0.28678	0.032000|0.032000	0.15435|0.15435	-0.242000|-0.242000	0.12053|0.12053	TTT|AAT		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
MYH7	4625	broad.mit.edu	37	14	23898176	23898176	+	Silent	SNP	G	G	A	rs45508293	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:23898176G>A	ENST00000355349.3	-	14	1557	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	465	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.F465F(2)		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)		CGAAGATCTCGAAGCCAGCGA	0.542													g|||	3	0.000599042	0.0023	0.0	5008	,	,		23008	0.0		0.0	False		,,,				2504	0.0				p.F465F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C1395T	14						.	G		9,4397	15.5+/-35.6	0,9,2194	88.0	77.0	81.0		1395	-7.4	0.7	14	dbSNP_127	81	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		465/1936	23898176	9,12997	2203	4300	6503	22968016	SO:0001819	synonymous_variant	4625	exon14			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.1395C>T	14.37:g.23898176G>A			22968016	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23899802	23899802	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:23899802G>T	ENST00000355349.3	-	11	1128	c.966C>A	c.(964-966)tcC>tcA	p.S322S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	322	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.S322S(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)		CGTCATCAATGGAGGCCACGG	0.552																																					p.S322S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966A	14						.						111.0	82.0	92.0					14																	23899802		2203	4300	6503	22969642	SO:0001819	synonymous_variant	4625	exon11			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.966C>A	14.37:g.23899802G>T			22969642	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.552	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
DHRS2	10202	broad.mit.edu	37	14	24108510	24108510	+	Missense_Mutation	SNP	C	C	T	rs562246921		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:24108510C>T	ENST00000250383.6	+	3	739	c.263C>T	c.(262-264)gCg>gTg	p.A88V	DHRS2_ENST00000344777.7_Missense_Mutation_p.A88V|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	88					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.A88V(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGAGTGTGGCGGGCATTGTG	0.687																																					p.A88V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C263T	14						.						31.0	35.0	33.0					14																	24108510		2201	4299	6500	23178350	SO:0001583	missense	10202	exon3				CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.263C>T	14.37:g.24108510C>T	ENSP00000250383:p.Ala88Val		23178350	NM_005794	D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	4.104	0.017412	0.07959	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.20738	2.05;2.05;2.05	4.96	-3.33	0.04958	NAD(P)-binding domain (1);	0.656003	0.15984	N	0.235171	T	0.06600	0.0169	N	0.05012	-0.13	0.09310	N	1	B;B;B;B	0.21905	0.022;0.008;0.062;0.021	B;B;B;B	0.20184	0.028;0.015;0.014;0.007	T	0.34129	-0.9841	10	0.16896	T	0.51	.	4.0306	0.09708	0.3414:0.2723:0.0:0.3863	.	66;88;88;66	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	V	88	ENSP00000401213:A88V;ENSP00000250383:A88V;ENSP00000344674:A88V	ENSP00000250383:A88V	A	+	2	0	DHRS2	23178350	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.893000	0.04127	-0.492000	0.06687	0.491000	0.48974	GCG		0.687	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
LRRC16B	90668	broad.mit.edu	37	14	24520093	24520093	+	5'Flank	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:24520093C>T	ENST00000342740.5	+	0	0				LRRC16B_ENST00000334420.7_5'Flank|RP11-468E2.9_ENST00000558293.1_RNA	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTCTTGGCATCGTGTCTTTCC	0.582																																					p.I254I												.	.	0			c.C762T	14						.						76.0	75.0	76.0					14																	24520093		2203	4300	6503	23589933	SO:0001631	upstream_gene_variant	728635	exon10			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23			14.37:g.24520093C>T	Exception_encountered		23589933	NM_001082488	Q8TEF7|Q96HS9	Silent	SNP	ENST00000342740.5	37	CCDS32054.1																																																																																				0.582	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
TM9SF1	10548	broad.mit.edu	37	14	24662353	24662353	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:24662353C>A	ENST00000261789.4	-	3	826	c.468G>T	c.(466-468)aaG>aaT	p.K156N	TM9SF1_ENST00000528669.1_Missense_Mutation_p.K156N|TM9SF1_ENST00000524835.1_Missense_Mutation_p.K69N|TM9SF1_ENST00000556387.1_Missense_Mutation_p.K365N|TM9SF1_ENST00000396854.4_Missense_Mutation_p.K156N|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000530611.1_Missense_Mutation_p.K365N	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	156					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.K156N(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGAGTCCTATCTTGTGGCTGT	0.488																																					p.K156N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G468T	14						.						97.0	94.0	95.0					14																	24662353		2203	4300	6503	23732193	SO:0001583	missense	10548	exon3			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.468G>T	14.37:g.24662353C>A	ENSP00000261789:p.Lys156Asn		23732193	NM_001014842	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413229	0.62511	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000528895;ENST00000530563;ENST00000530468;ENST00000525592;ENST00000528010;ENST00000530611	T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.99	4.11	0.48088	.	0.053116	0.64402	D	0.000001	T	0.53286	0.1787	M	0.61387	1.9	0.58432	D	0.999995	P;P;B	0.51240	0.943;0.599;0.425	P;P;B	0.53722	0.733;0.574;0.221	T	0.54437	-0.8294	10	0.52906	T	0.07	-11.5412	7.2156	0.25957	0.0:0.8078:0.0:0.1922	.	156;156;156	E9PJM1;Q86SZ6;O15321	.;.;TM9S1_HUMAN	N	156;156;365;69;156;156;69;156;156;156;365	ENSP00000261789:K156N;ENSP00000432997:K156N;ENSP00000451949:K365N;ENSP00000434387:K69N;ENSP00000380063:K156N;ENSP00000431447:K156N;ENSP00000437127:K69N;ENSP00000435857:K156N;ENSP00000432435:K156N;ENSP00000433792:K156N;ENSP00000433967:K365N	ENSP00000433967:K365N	K	-	3	2	TM9SF1;RP11-468E2.1	23732193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.558000	0.45879	1.327000	0.45338	0.655000	0.94253	AAG		0.488	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	NM_006405	
CHMP4A	29082	broad.mit.edu	37	14	24680977	24680977	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:24680977C>T	ENST00000609024.1	-	2	138	c.90G>A	c.(88-90)gaG>gaA	p.E30E	CHMP4A_ENST00000347519.6_Silent_p.E73E|AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000530996.1_5'UTR|TM9SF1_ENST00000556387.1_Silent_p.E30E|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'UTR|MDP1_ENST00000532557.1_5'Flank|TM9SF1_ENST00000530611.1_Silent_p.E30E			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	30	Interaction with phosphoinosides.|Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)	p.E73E(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCAGTATCTTCTCTGTCTCCT	0.443																																					p.E73E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	14						.						209.0	186.0	194.0					14																	24680977		2203	4300	6503	23750817	SO:0001819	synonymous_variant	29082	exon2			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.90G>A	14.37:g.24680977C>T			23750817	NM_014169	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	ENST00000609024.1	37		.	.	.	.	.	.	.	.	.	.	C	12.74	2.027611	0.35797	.	.	ENSG00000254505	ENST00000548308	.	.	.	5.39	1.44	0.22558	.	0.000000	0.39759	N	0.001277	T	0.56920	0.2018	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49753	-0.8906	5	.	.	.	-17.9599	8.7429	0.34569	0.0:0.6628:0.0:0.3372	.	.	.	.	K	50	.	.	E	-	1	0	AL096870.1	23750817	0.986000	0.35501	0.949000	0.38748	0.968000	0.65278	1.143000	0.31553	0.254000	0.21573	-0.291000	0.09656	GAA		0.443	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169	
NEDD8	4738	broad.mit.edu	37	14	24687414	24687414	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:24687414C>T	ENST00000250495.5	-	3	260	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	NEDD8_ENST00000524927.1_Missense_Mutation_p.R25Q|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R25Q|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000396833.2_5'Flank|MDP1_ENST00000288087.7_5'Flank|MDP1_ENST00000532557.1_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	25					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.R25Q(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		CTCCTTGATTCGCTCCACCTT	0.517																																					p.R25Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G74A	14						.						118.0	103.0	108.0					14																	24687414		2203	4300	6503	23757254	SO:0001583	missense	4738	exon3			D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.74G>A	14.37:g.24687414C>T	ENSP00000250495:p.Arg25Gln		23757254	NM_001199823	Q3SXN8|Q6LES6	Missense_Mutation	SNP	ENST00000250495.5	37	CCDS9621.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179410	0.94846	.	.	ENSG00000255526;ENSG00000129559;ENSG00000129559	ENST00000534348;ENST00000250495;ENST00000524927	T;T;T	0.71222	-0.55;-0.55;-0.55	5.15	5.15	0.70609	Ubiquitin supergroup (1);Ubiquitin (2);	0.068063	0.56097	N	0.000028	T	0.57330	0.2046	N	0.16862	0.45	0.80722	D	1	D	0.55605	0.972	B	0.40410	0.328	T	0.67106	-0.5754	10	0.87932	D	0	-5.2715	17.5536	0.87884	0.0:1.0:0.0:0.0	.	25	Q15843	NEDD8_HUMAN	Q	25	ENSP00000431482:R25Q;ENSP00000250495:R25Q;ENSP00000448192:R25Q	ENSP00000250495:R25Q	R	-	2	0	NEDD8-MDP1;NEDD8	23757254	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.780000	0.62382	2.675000	0.91044	0.655000	0.94253	CGA		0.517	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2	NM_006156	
GZMB	3002	broad.mit.edu	37	14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A	rs199605460		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:25101153G>A	ENST00000216341.4	-	4	617	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_ENST00000382540.1_Nonsense_Mutation_p.R126*|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000382542.1_Nonsense_Mutation_p.R205*|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000415355.3_Nonsense_Mutation_p.R159*			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|intrinsic apoptotic signaling pathway (GO:0097193)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R205*(1)|p.R171*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517																																					p.R171X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C511T	14						.						161.0	151.0	154.0					14																	25101153		2203	4300	6503	24170993	SO:0001587	stop_gained	3002	exon4			BC030195	CCDS9633.1	14q11.2	2008-08-13			ENSG00000100453	ENSG00000100453			4709	protein-coding gene	gene with protein product	"""fragmentin 2"", ""cytotoxic serine protease B"", ""cathepsin G-like 1"", ""T-cell serine protease 1-3E"""	123910		CTLA1, CSPB		2323780	Standard	NM_004131		Approved	CCPI, CGL-1, CSP-B, CGL1, CTSGL1, HLP, SECT	uc001wps.2	P10144	OTTHUMG00000029369	ENST00000216341.4:c.511C>T	14.37:g.25101153G>A	ENSP00000216341:p.Arg171*		24170993	NM_004131	Q8N1D2|Q9UCC1	Nonsense_Mutation	SNP	ENST00000216341.4	37	CCDS9633.1	.	.	.	.	.	.	.	.	.	.	g	12.41	1.928929	0.34002	.	.	ENSG00000100453	ENST00000415355;ENST00000216341;ENST00000382542;ENST00000382540;ENST00000382539	.	.	.	5.3	-5.55	0.02536	.	1.857220	0.03740	N	0.254823	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.315	0.02105	0.2399:0.3664:0.1846:0.209	.	.	.	.	X	159;171;205;126;76	.	ENSP00000216341:R171X	R	-	1	2	GZMB	24170993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.161000	0.01278	-1.007000	0.03408	-0.868000	0.02995	CGA		0.517	GZMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276540.3	NM_004131	
HECTD1	25831	broad.mit.edu	37	14	31572157	31572157	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:31572157A>C	ENST00000399332.1	-	41	8003	c.7515T>G	c.(7513-7515)aaT>aaG	p.N2505K	HECTD1_ENST00000553700.1_Missense_Mutation_p.N2505K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2505	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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.N2505K(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)		GTTCAGTGTAATTGATAATAT	0.368																																					p.N2505K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7515G	14						.						151.0	145.0	147.0					14																	31572157		1898	4117	6015	30641908	SO:0001583	missense	25831	exon41			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.7515T>G	14.37:g.31572157A>C	ENSP00000382269:p.Asn2505Lys		30641908	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.19|17.19	3.325232|3.325232	0.60743|0.60743	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000399323	.|T;T	.|0.39229	.|1.09;1.09	5.94|5.94	4.81|4.81	0.61882|0.61882	.|HECT (4);	.|0.062767	.|0.64402	.|U	.|0.000010	T|T	0.28896|0.28896	0.0717|0.0717	N|N	0.25825|0.25825	0.765|0.765	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38711	.|0.643	.|B	.|0.34652	.|0.187	T|T	0.12837|0.12837	-1.0532|-1.0532	5|10	.|0.52906	.|T	.|0.07	-19.0465|-19.0465	11.4838|11.4838	0.50342|0.50342	0.9306:0.0:0.0694:0.0|0.9306:0.0:0.0694:0.0	.|.	.|2505	.|Q9ULT8	.|HECD1_HUMAN	S|K	871|2505;2507;2505;66	.|ENSP00000450697:N2505K;ENSP00000382269:N2505K	.|ENSP00000261312:N2507K	I|N	-|-	2|3	0|2	HECTD1|HECTD1	30641908|30641908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.391000|4.391000	0.59652|0.59652	2.275000|2.275000	0.75901|0.75901	0.528000|0.528000	0.53228|0.53228	ATT|AAT		0.368	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
ARHGAP5	394	broad.mit.edu	37	14	32563226	32563226	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:32563226T>G	ENST00000345122.3	+	2	3666	c.3351T>G	c.(3349-3351)aaT>aaG	p.N1117K	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1117K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1117K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1117K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1117					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.N1117K(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATAGTCAAAATCGTATTAAAA	0.368																																					p.N1117K	NSCLC(9;77 350 3443 29227 41353)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3351G	14						.						52.0	55.0	54.0					14																	32563226		2203	4299	6502	31632977	SO:0001583	missense	394	exon2			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3351T>G	14.37:g.32563226T>G	ENSP00000371897:p.Asn1117Lys		31632977	NM_001030055	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	8.546	0.874366	0.17395	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.27	5.27	0.74061	.	0.082034	0.85682	D	0.000000	T	0.08133	0.0203	L	0.36672	1.1	0.43896	D	0.996526	B;B	0.31705	0.336;0.227	B;B	0.35550	0.205;0.101	T	0.36286	-0.9754	10	0.24483	T	0.36	.	9.9324	0.41530	0.0:0.0765:0.0:0.9235	.	1117;1117	Q13017-2;Q13017	.;RHG05_HUMAN	K	1117	ENSP00000452222:N1117K;ENSP00000441692:N1117K;ENSP00000371897:N1117K;ENSP00000393307:N1117K	ENSP00000371897:N1117K	N	+	3	2	ARHGAP5	31632977	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.806000	0.38892	2.123000	0.65237	0.383000	0.25322	AAT		0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
SRP54	6729	broad.mit.edu	37	14	35468785	35468785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:35468785G>T	ENST00000556994.1	+	4	497	c.100G>T	c.(100-102)Gaa>Taa	p.E34*	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000216774.6_Nonsense_Mutation_p.E34*			P61011	SRP54_HUMAN	signal recognition particle 54kDa	34	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.E34*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TATGCTAAAAGAAGTCTGTAC	0.299																																					p.E34X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G100T	14						.						95.0	99.0	98.0					14																	35468785		2203	4300	6503	34538536	SO:0001587	stop_gained	6729	exon3			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.100G>T	14.37:g.35468785G>T	ENSP00000451818:p.Glu34*		34538536	NM_003136	B2R759|B4DUW6|P13624	Nonsense_Mutation	SNP	ENST00000556994.1	37	CCDS9652.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765514	0.90020	.	.	ENSG00000100883	ENST00000556994;ENST00000554803;ENST00000555746;ENST00000216774	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.0883	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	X	34	.	ENSP00000216774:E34X	E	+	1	0	SRP54	34538536	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.649000	0.98487	2.654000	0.90174	0.563000	0.77884	GAA		0.299	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
LRFN5	145581	broad.mit.edu	37	14	42356576	42356576	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:42356576T>C	ENST00000298119.4	+	3	1937	c.748T>C	c.(748-750)Tgg>Cgg	p.W250R	LRFN5_ENST00000554120.1_Missense_Mutation_p.W250R|LRFN5_ENST00000554171.1_Missense_Mutation_p.W250R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	250	LRRCT.					integral component of membrane (GO:0016021)		p.W250R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAATTGTTGTGGTTGAGGCG	0.443										HNSCC(30;0.082)																											p.W250R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T748C	14						.						162.0	162.0	162.0					14																	42356576		2203	4300	6503	41426326	SO:0001583	missense	145581	exon3			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.748T>C	14.37:g.42356576T>C	ENSP00000298119:p.Trp250Arg		41426326	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098854	0.56183	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54071	0.59;0.59;0.59	5.69	5.69	0.88448	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.53938	D	0.000058	T	0.78515	0.4295	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83925	0.0303	10	0.87932	D	0	.	13.9063	0.63839	0.0:0.0:0.0:1.0	.	250;250	G3V364;Q96NI6	.;LRFN5_HUMAN	R	250	ENSP00000298119:W250R;ENSP00000451897:W250R;ENSP00000451067:W250R	ENSP00000298119:W250R	W	+	1	0	LRFN5	41426326	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.161000	0.67846	0.455000	0.32223	TGG		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FAM179B	23116	broad.mit.edu	37	14	45481249	45481249	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:45481249C>A	ENST00000361577.3	+	7	3423	c.3209C>A	c.(3208-3210)tCt>tAt	p.S1070Y	FAM179B_ENST00000361462.2_Missense_Mutation_p.S1070Y|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.F992L	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1070	Ser-rich.							p.S1070Y(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAAAAAATTTCTCATATTGCT	0.294																																					p.S1070Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3209A	14						.						52.0	55.0	54.0					14																	45481249		2201	4299	6500	44550999	SO:0001583	missense	23116	exon7			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.3209C>A	14.37:g.45481249C>A	ENSP00000355045:p.Ser1070Tyr		44550999	NM_015091	Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.858|4.858	0.159429|0.159429	0.09236|0.09236	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000382233|ENST00000429476;ENST00000361577;ENST00000361462	T|T;T	0.28666|0.04406	1.6|3.63;3.63	5.92|5.92	4.1|4.1	0.47936|0.47936	.|Armadillo-type fold (1);	.|0.446471	.|0.24465	.|N	.|0.038299	T|T	0.05364|0.05364	0.0142|0.0142	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P	.|0.40875	.|0.731;0.731	.|B;B	.|0.44224	.|0.444;0.444	T|T	0.27739|0.27739	-1.0065|-1.0065	7|10	0.87932|0.59425	D|D	0|0.04	-3.3036|-3.3036	10.1989|10.1989	0.43071|0.43071	0.0:0.8465:0.0:0.1535|0.0:0.8465:0.0:0.1535	.|.	.|1070;1070	.|G3XAE9;Q9Y4F4	.|.;F179B_HUMAN	L|Y	992|1070	ENSP00000371668:F992L|ENSP00000355045:S1070Y;ENSP00000354917:S1070Y	ENSP00000371668:F992L|ENSP00000354917:S1070Y	F|S	+|+	3|2	2|0	FAM179B|FAM179B	44550999|44550999	0.159000|0.159000	0.22864|0.22864	0.011000|0.011000	0.14972|0.14972	0.008000|0.008000	0.06430|0.06430	2.144000|2.144000	0.42197|0.42197	1.500000|1.500000	0.48636|0.48636	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.294	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
FANCM	57697	broad.mit.edu	37	14	45618082	45618082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:45618082G>T	ENST00000267430.5	+	4	887	c.802G>T	c.(802-804)Gag>Tag	p.E268*	FANCM_ENST00000556036.1_Nonsense_Mutation_p.E268*|FANCM_ENST00000542564.2_Nonsense_Mutation_p.E242*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	268					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E268*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGCAGATAGAGCTTCGTTC	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.E268X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G802T	14						.						71.0	71.0	71.0					14																	45618082		2203	4300	6503	44687832	SO:0001587	stop_gained	57697	exon4	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.802G>T	14.37:g.45618082G>T	ENSP00000267430:p.Glu268*		44687832	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	37	6.218771	0.97385	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	.	.	.	5.75	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8754	0.57988	0.079:0.0:0.921:0.0	.	.	.	.	X	268;268;242	.	ENSP00000267430:E268X	E	+	1	0	FANCM	44687832	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.702000	0.84576	1.567000	0.49668	0.650000	0.86243	GAG		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
FANCM	57697	broad.mit.edu	37	14	45644338	45644338	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:45644338T>G	ENST00000267430.5	+	14	2466	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C	FANCM_ENST00000542564.2_Missense_Mutation_p.F768C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	794					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.F794C(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTCAACATTTATTGCTCCC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.F794C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2381G	14						.						85.0	85.0	85.0					14																	45644338		2203	4299	6502	44714088	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2381T>G	14.37:g.45644338T>G	ENSP00000267430:p.Phe794Cys		44714088	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	9.976	1.226886	0.22542	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18502	2.79;2.8;2.21	5.09	-2.67	0.06059	.	1.069690	0.07075	N	0.836004	T	0.12817	0.0311	L	0.44542	1.39	0.09310	N	1	P;P	0.51653	0.947;0.947	B;B	0.43103	0.408;0.408	T	0.21930	-1.0231	10	0.39692	T	0.17	.	2.4942	0.04617	0.1692:0.4597:0.1597:0.2114	.	768;794	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	C	794;768;310	ENSP00000267430:F794C;ENSP00000442493:F768C;ENSP00000452033:F310C	ENSP00000267430:F794C	F	+	2	0	FANCM	44714088	0.000000	0.05858	0.002000	0.10522	0.451000	0.32288	-0.554000	0.06006	-0.268000	0.09312	0.482000	0.46254	TTT		0.333	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
MDGA2	161357	broad.mit.edu	37	14	47324284	47324284	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:47324284A>G	ENST00000399232.2	-	15	2983	c.2619T>C	c.(2617-2619)aaT>aaC	p.N873N	MDGA2_ENST00000426342.1_Silent_p.N644N|MDGA2_ENST00000399222.3_Silent_p.N75N|MDGA2_ENST00000439988.3_Silent_p.N942N|MDGA2_ENST00000357362.3_Silent_p.N644N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	873	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.N644N(2)|p.N942N(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						TTTGTCCTTTATTCCCACTTG	0.313																																					p.N644N												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T1932C	14						.						137.0	128.0	131.0					14																	47324284		1826	4076	5902	46394034	SO:0001819	synonymous_variant	161357	exon15			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.2619T>C	14.37:g.47324284A>G			46394034	NM_182830	F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37																																																																																					0.313	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
KLHDC2	23588	broad.mit.edu	37	14	50244957	50244957	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:50244957T>G	ENST00000298307.5	+	5	1390	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.F177V|KLHDC2_ENST00000557247.1_Missense_Mutation_p.F177V	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	177						nucleus (GO:0005634)		p.F177V(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AACTTTTGAATTCGATGAAAC	0.299																																					p.F177V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T529G	14						.						139.0	139.0	139.0					14																	50244957		2203	4300	6503	49314707	SO:0001583	missense	23588	exon5			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.529T>G	14.37:g.50244957T>G	ENSP00000298307:p.Phe177Val		49314707	NM_014315	B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276434	0.23307	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.05382	3.8;3.5;3.45	5.62	5.62	0.85841	Kelch-type beta propeller (1);	0.051372	0.85682	D	0.000000	T	0.06234	0.0161	N	0.12831	0.26	0.58432	D	0.999999	B;P;P	0.46784	0.011;0.884;0.816	B;P;B	0.47864	0.018;0.559;0.357	T	0.53739	-0.8396	10	0.11182	T	0.66	-18.5346	15.8267	0.78711	0.0:0.0:0.0:1.0	.	177;177;177	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	V	177	ENSP00000298307:F177V;ENSP00000451439:F177V;ENSP00000450658:F177V	ENSP00000298307:F177V	F	+	1	0	KLHDC2	49314707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.525000	0.60559	2.141000	0.66446	0.528000	0.53228	TTC		0.299	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
NEMF	9147	broad.mit.edu	37	14	50292653	50292653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:50292653C>A	ENST00000298310.5	-	16	1958	c.1509G>T	c.(1507-1509)aaG>aaT	p.K503N	NEMF_ENST00000545773.1_Missense_Mutation_p.K461N|AL627171.2_ENST00000595378.1_3'UTR|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.K503N			O60524	NEMF_HUMAN	nuclear export mediator factor	503					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.K503N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCTTTGTTTTCTTTTCTGCTG	0.279																																					p.K503N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1509T	14						.						119.0	113.0	115.0					14																	50292653		2201	4297	6498	49362403	SO:0001583	missense	9147	exon16			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1509G>T	14.37:g.50292653C>A	ENSP00000298310:p.Lys503Asn		49362403	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348767	0.61183	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.34	4.45	0.53987	Fibronectin-binding A, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68824	0.3043	M	0.87827	2.91	0.80722	D	1	P;P;P;P;D	0.71674	0.86;0.746;0.86;0.86;0.998	P;P;P;P;D	0.70487	0.561;0.661;0.661;0.661;0.969	T	0.71751	-0.4498	10	0.46703	T	0.11	-14.2237	10.4157	0.44320	0.0:0.8506:0.0:0.1494	.	503;274;478;461;503	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	N	503;461;503;274;461	ENSP00000298310:K503N;ENSP00000438309:K461N;ENSP00000441016:K503N;ENSP00000452540:K461N	ENSP00000298310:K503N	K	-	3	2	NEMF	49362403	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.788000	0.38714	1.407000	0.46875	0.644000	0.83932	AAG		0.279	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NEMF	9147	broad.mit.edu	37	14	50295907	50295907	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:50295907C>T	ENST00000298310.5	-	13	1546	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	NEMF_ENST00000545773.1_Missense_Mutation_p.R324Q|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.R366Q			O60524	NEMF_HUMAN	nuclear export mediator factor	366					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.R366Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TAAAGCACTTCGAACTACCTG	0.388																																					p.R366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	14						.						161.0	153.0	156.0					14																	50295907		2203	4300	6503	49365657	SO:0001583	missense	9147	exon13			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1097G>A	14.37:g.50295907C>T	ENSP00000298310:p.Arg366Gln		49365657	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639853	0.47153	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.34	5.34	0.76211	Fibronectin-binding A, N-terminal (1);	0.059837	0.64402	D	0.000002	T	0.48040	0.1478	L	0.51853	1.615	0.80722	D	1	D;P;D;P;P	0.55800	0.973;0.884;0.966;0.925;0.891	P;P;P;P;P	0.51487	0.606;0.485;0.638;0.542;0.671	T	0.30937	-0.9961	10	0.10902	T	0.67	-8.7258	19.0363	0.92980	0.0:1.0:0.0:0.0	.	366;137;341;324;366	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	Q	366;324;366;137;324	ENSP00000298310:R366Q;ENSP00000438309:R324Q;ENSP00000441016:R366Q;ENSP00000452540:R324Q	ENSP00000298310:R366Q	R	-	2	0	NEMF	49365657	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.507000	0.66999	2.496000	0.84212	0.591000	0.81541	CGA		0.388	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
FBXO34	55030	broad.mit.edu	37	14	55818442	55818442	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:55818442G>A	ENST00000313833.4	+	2	1579	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.R445Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	445								p.R445Q(1)		breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						CTTACTAGCCGAAATCCTGAT	0.433																																					p.R445Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334A	14						.						132.0	124.0	127.0					14																	55818442		2203	4300	6503	54888195	SO:0001583	missense	55030	exon2			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1334G>A	14.37:g.55818442G>A	ENSP00000313159:p.Arg445Gln		54888195	NM_152231	Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.780903	0.00079	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.16457	2.34;2.34	5.48	3.12	0.35913	.	0.869248	0.09825	N	0.750989	T	0.05181	0.0138	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	10	0.13470	T	0.59	-16.8777	1.8293	0.03127	0.5806:0.1391:0.1468:0.1335	.	445	Q9NWN3	FBX34_HUMAN	Q	445	ENSP00000313159:R445Q;ENSP00000394117:R445Q	ENSP00000313159:R445Q	R	+	2	0	FBXO34	54888195	0.000000	0.05858	0.013000	0.15412	0.002000	0.02628	0.404000	0.20999	0.162000	0.19483	-1.189000	0.01698	CGA		0.433	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1		
TMEM260	54916	broad.mit.edu	37	14	57092245	57092245	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:57092245A>C	ENST00000261556.6	+	12	1666	c.1544A>C	c.(1543-1545)aAa>aCa	p.K515T	TMEM260_ENST00000536419.1_Missense_Mutation_p.K49T|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	515						integral component of membrane (GO:0016021)		p.K515T(1)									GAAGTAAATAAACAGTAAGCA	0.333																																					p.K515T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1544C	14						.						68.0	70.0	70.0					14																	57092245		2203	4300	6503	56161998	SO:0001583	missense	54916	exon12			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1544A>C	14.37:g.57092245A>C	ENSP00000261556:p.Lys515Thr		56161998	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.734865	0.48939	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.45276	1.49;0.9	5.94	5.94	0.96194	.	0.149996	0.64402	D	0.000012	T	0.30324	0.0761	N	0.22421	0.69	0.35802	D	0.823224	B	0.27229	0.172	B	0.16289	0.015	T	0.28808	-1.0032	10	0.28530	T	0.3	-14.0776	16.4445	0.83913	1.0:0.0:0.0:0.0	.	515	Q9NX78	CN101_HUMAN	T	515;49	ENSP00000261556:K515T;ENSP00000438742:K49T	ENSP00000261556:K515T	K	+	2	0	C14orf101	56161998	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.604000	0.61112	2.284000	0.76573	0.529000	0.55759	AAA		0.333	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
OTX2	5015	broad.mit.edu	37	14	57269058	57269058	+	Nonsense_Mutation	SNP	G	G	A	rs104894464		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:57269058G>A	ENST00000555006.1	-	4	673	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Nonsense_Mutation_p.R89*|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Nonsense_Mutation_p.R97*|OTX2_ENST00000554559.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	89			R -> G (in MCOPS5). {ECO:0000269|PubMed:15846561}.		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.R97*(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)					TTAGCTCTTCGATTCTTAAAC	0.423																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	14	GRCh37	CM051593	OTX2	M	rs104894464	.						105.0	113.0	110.0					14																	57269058		2203	4300	6503	56338811	SO:0001587	stop_gained	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.265C>T	14.37:g.57269058G>A	ENSP00000452336:p.Arg89*		56338811	NM_021728	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868417	0.91587	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.	.	.	5.78	5.78	0.91487	.	0.000000	0.36628	N	0.002496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9921	0.92796	0.0:0.0:1.0:0.0	.	.	.	.	X	97;89;89;97;89	.	ENSP00000343819:R97X	R	-	1	2	OTX2	56338811	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.716000	0.61916	2.722000	0.93159	0.557000	0.71058	CGA		0.423	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	
SLC35F4	341880	broad.mit.edu	37	14	58056127	58056127	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:58056127G>T	ENST00000339762.6	-	3	501	c.502C>A	c.(502-504)Ctc>Atc	p.L168I	SLC35F4_ENST00000554729.1_Missense_Mutation_p.L9I|SLC35F4_ENST00000556826.1_Missense_Mutation_p.L132I			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	168					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.L168I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGATCAAGAGTCCCCAGATG	0.438																																					p.L168I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C502A	14						.						77.0	79.0	79.0					14																	58056127		2004	4191	6195	57125880	SO:0001583	missense	341880	exon3					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.502C>A	14.37:g.58056127G>T	ENSP00000342518:p.Leu168Ile		57125880	NM_001080455	A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37		.	.	.	.	.	.	.	.	.	.	G	14.14	2.446001	0.43429	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.47869	0.88;0.83;0.95	6.06	5.07	0.68467	.	0.108953	0.64402	D	0.000003	T	0.30386	0.0763	L	0.39898	1.24	0.45541	D	0.998498	B	0.27117	0.168	B	0.17722	0.019	T	0.18053	-1.0349	10	0.18276	T	0.48	-19.0956	4.0572	0.09823	0.3058:0.0:0.6942:0.0	.	168	A4IF30	S35F4_HUMAN	I	132;168;9	ENSP00000452086:L132I;ENSP00000342518:L168I;ENSP00000451990:L9I	ENSP00000342518:L168I	L	-	1	0	SLC35F4	57125880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.882000	0.98803	0.655000	0.94253	CTC		0.438	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260	
C14orf37	145407	broad.mit.edu	37	14	58598392	58598392	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:58598392G>T	ENST00000267485.7	-	4	1863	c.1669C>A	c.(1669-1671)Ctg>Atg	p.L557M	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	557						integral component of membrane (GO:0016021)		p.L557M(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGAGATCCCAGAACTGGTGTG	0.488																																					p.L557M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1669A	14						.						120.0	121.0	120.0					14																	58598392		2203	4300	6503	57668145	SO:0001583	missense	145407	exon4				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1669C>A	14.37:g.58598392G>T	ENSP00000267485:p.Leu557Met		57668145	NM_001001872	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138004	0.56936	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.27402	1.67	5.78	-4.23	0.03789	.	1.558920	0.03496	N	0.217296	T	0.21631	0.0521	L	0.56769	1.78	0.09310	N	1	B;P;B;B	0.39022	0.4;0.655;0.4;0.4	B;B;B;B	0.31191	0.075;0.125;0.075;0.075	T	0.15321	-1.0441	10	0.36615	T	0.2	3.301	1.6506	0.02771	0.3086:0.3262:0.2448:0.1204	.	595;557;557;557	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	M	557;595	ENSP00000267485:L557M	ENSP00000267485:L557M	L	-	1	2	C14orf37	57668145	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	-0.494000	0.06451	-1.090000	0.03069	0.650000	0.86243	CTG		0.488	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872	
ARID4A	5926	broad.mit.edu	37	14	58838613	58838613	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:58838613C>T	ENST00000355431.3	+	24	4053	c.3680C>T	c.(3679-3681)gCg>gTg	p.A1227V	ARID4A_ENST00000348476.3_Missense_Mutation_p.A1158V|ARID4A_ENST00000395168.3_Missense_Mutation_p.A1173V|RP11-517O13.3_ENST00000556390.1_RNA|ARID4A_ENST00000431317.2_Missense_Mutation_p.A1158V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1227					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.A1227V(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						GTGTCTCATGCGGGAGCCTCC	0.393																																					p.A1173V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3518T	14						.						108.0	87.0	94.0					14																	58838613		2203	4300	6503	57908366	SO:0001583	missense	5926	exon24			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.3680C>T	14.37:g.58838613C>T	ENSP00000347602:p.Ala1227Val		57908366	NM_023000	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941429	0.34283	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317	T;T;T;T	0.15834	2.39;2.47;2.47;2.47	5.18	4.29	0.51040	.	0.554031	0.18275	N	0.146194	T	0.16128	0.0388	L	0.36672	1.1	0.20307	N	0.999914	B;B;B	0.15719	0.014;0.004;0.014	B;B;B	0.11329	0.006;0.002;0.006	T	0.17440	-1.0369	10	0.87932	D	0	-11.7968	13.6291	0.62186	0.0:0.9257:0.0:0.0743	.	1158;1227;1173	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	V	1227;1158;1173;1158	ENSP00000347602:A1227V;ENSP00000344556:A1158V;ENSP00000378597:A1173V;ENSP00000397368:A1158V	ENSP00000344556:A1158V	A	+	2	0	ARID4A	57908366	1.000000	0.71417	0.921000	0.36526	0.975000	0.68041	5.125000	0.64715	1.414000	0.47017	0.563000	0.77884	GCG		0.393	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
DAAM1	23002	broad.mit.edu	37	14	59826117	59826117	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:59826117A>G	ENST00000395125.1	+	21	2581	c.2558A>G	c.(2557-2559)aAc>aGc	p.N853S	DAAM1_ENST00000360909.3_Missense_Mutation_p.N843S|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.N853S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	853	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.N853S(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AATTGTAGAAACATTACCCTT	0.299																																					p.N853S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2558G	14						.						82.0	77.0	79.0					14																	59826117		2202	4300	6502	58895870	SO:0001583	missense	23002	exon22			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2558A>G	14.37:g.59826117A>G	ENSP00000378557:p.Asn853Ser		58895870	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690872	0.68271	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.16324	2.35;2.35;2.35	5.69	5.69	0.88448	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.41906	1.305	0.80722	D	1	B;P	0.42123	0.142;0.771	B;P	0.51355	0.098;0.667	T	0.00681	-1.1612	10	0.34782	T	0.22	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	843;853	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	843;853;822;853	ENSP00000354162:N843S;ENSP00000247170:N853S;ENSP00000378557:N853S	ENSP00000247170:N853S	N	+	2	0	DAAM1	58895870	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.245000	0.95431	2.291000	0.77112	0.533000	0.62120	AAC		0.299	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
JKAMP	51528	broad.mit.edu	37	14	59954530	59954530	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:59954530T>C	ENST00000261247.9	+	3	382	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.Y73H|JKAMP_ENST00000554271.1_Missense_Mutation_p.Y93H|JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000356057.5_Missense_Mutation_p.Y87H|JKAMP_ENST00000556985.1_Missense_Mutation_p.Y79H	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	94					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.Y87H(1)		breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CATTGAATGGTACTCGGGGAA	0.373																																					p.Y73H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T217C	14						.						288.0	263.0	271.0					14																	59954530		1853	4104	5957	59024283	SO:0001583	missense	51528	exon3			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.235T>C	14.37:g.59954530T>C	ENSP00000261247:p.Tyr79His		59024283	NM_001098625	B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	ENST00000261247.9	37	CCDS45116.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347138	0.61183	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.6	4.46	0.54185	.	0.053226	0.85682	N	0.000000	T	0.54663	0.1872	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.44309	0.832;0.799;0.799;0.799;0.799	P;B;B;B;B	0.45998	0.5;0.366;0.295;0.366;0.366	T	0.48433	-0.9036	9	0.15952	T	0.53	-46.2585	11.2195	0.48846	0.0:0.0713:0.0:0.9286	.	94;93;73;87;79	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	H	79;73;79;93;87;87	.	ENSP00000261247:Y79H	Y	+	1	0	JKAMP	59024283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.126000	0.71635	0.966000	0.38159	0.533000	0.62120	TAC		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625	
CCDC175	729665	broad.mit.edu	37	14	59970584	59970584	+	IGR	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:59970584C>A	ENST00000537690.2	-	0	2616				RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.L238I|JKAMP_ENST00000554271.1_Missense_Mutation_p.L258I|JKAMP_ENST00000356057.5_Missense_Mutation_p.L252I|JKAMP_ENST00000261247.9_Missense_Mutation_p.L244I	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175									p.L252I(1)									CTGCTATGATCTTCTGGTCAG	0.323																																					p.L238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C712A	14						.						96.0	91.0	92.0					14																	59970584		1806	4076	5882	59040337	SO:0001628	intergenic_variant	51528	exon7				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970584C>A			59040337	NM_001098625	G3V5J7	Missense_Mutation	SNP	ENST00000537690.2	37	CCDS53898.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403907	0.62288	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000356057	.	.	.	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.64404	1.975	0.54753	D	0.999982	P;P;P;P;P	0.47484	0.896;0.873;0.703;0.873;0.873	P;B;B;B;B	0.44394	0.448;0.319;0.319;0.319;0.319	T	0.64626	-0.6363	9	0.59425	D	0.04	-7.2	14.5802	0.68282	0.0:0.93:0.0:0.07	.	259;258;238;252;244	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	I	244;238;258;252	.	ENSP00000261247:L244I	L	+	1	0	JKAMP	59040337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.373000	0.59537	1.384000	0.46424	0.655000	0.94253	CTT		0.323	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471273.1	NM_001164399	
SYT16	83851	broad.mit.edu	37	14	62463169	62463169	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:62463169G>T	ENST00000430451.2	+	1	629	c.432G>T	c.(430-432)gaG>gaT	p.E144D	SYT16_ENST00000446982.2_Missense_Mutation_p.E144D	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	144					exocytosis (GO:0006887)			p.E144D(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)		CGGAGGAAGAGCATCACCTTG	0.463																																					p.E144D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G432T	14						.						125.0	118.0	120.0					14																	62463169		1896	4131	6027	61532922	SO:0001583	missense	83851	exon1			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.432G>T	14.37:g.62463169G>T	ENSP00000394700:p.Glu144Asp		61532922	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350858	0.24512	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.33216	1.42;3.75	5.55	-11.1	0.00147	.	0.268594	0.26560	N	0.023684	T	0.13157	0.0319	L	0.41236	1.265	0.09310	N	0.999999	B;B	0.21309	0.054;0.003	B;B	0.19666	0.026;0.004	T	0.03784	-1.1004	10	0.39692	T	0.17	-12.6637	1.8919	0.03249	0.4644:0.1399:0.1731:0.2226	.	144;144	B4DZH2;Q17RD7	.;SYT16_HUMAN	D	144	ENSP00000388023:E144D;ENSP00000394700:E144D	ENSP00000394700:E144D	E	+	3	2	SYT16	61532922	0.000000	0.05858	0.020000	0.16555	0.992000	0.81027	-1.730000	0.01855	-2.099000	0.00849	0.655000	0.94253	GAG		0.463	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
KCNH5	27133	broad.mit.edu	37	14	63175164	63175164	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:63175164G>A	ENST00000322893.7	-	11	2297	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	KCNH5_ENST00000420622.2_Missense_Mutation_p.S611L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	677					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R677C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTGATCTTACGAAAGATGATC	0.458																																					p.S611L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1832T	14						.						50.0	54.0	53.0					14																	63175164		2202	4300	6502	62244917	SO:0001583	missense	27133	exon10			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2029C>T	14.37:g.63175164G>A	ENSP00000321427:p.Arg677Cys		62244917	NM_172375	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.62|13.62	2.291028|2.291028	0.40494|0.40494	.|.	.|.	ENSG00000140015|ENSG00000140015	ENST00000322893|ENST00000420622	T|D	0.18502|0.98531	2.21|-4.98	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.123346|.	0.51477|.	D|.	0.000082|.	D|D	0.96191|0.96191	0.8758|0.8758	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.20052	1.0|0.041	D|B	0.81914|0.12156	0.995|0.007	D|D	0.93426|0.93426	0.6781|0.6781	9|8	0.87932|0.87932	D|D	0|0	.|.	11.31|11.31	0.49358|0.49358	0.0:0.1165:0.6166:0.267|0.0:0.1165:0.6166:0.267	.|.	677|611	Q8NCM2|Q8NCM2-2	KCNH5_HUMAN|.	C|L	677|611	ENSP00000321427:R677C|ENSP00000395439:S611L	ENSP00000321427:R677C|ENSP00000395439:S611L	R|S	-|-	1|2	0|0	KCNH5|KCNH5	62244917|62244917	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.608000|0.608000	0.37181|0.37181	2.738000|2.738000	0.47401|0.47401	0.741000|0.741000	0.32674|0.32674	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.458	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
KCNH5	27133	broad.mit.edu	37	14	63468133	63468133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:63468133C>A	ENST00000322893.7	-	4	617	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	KCNH5_ENST00000394968.1_Nonsense_Mutation_p.E59*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.E117*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.E59*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	117	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E117*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTTCATGTTCATTTCTTATT	0.388																																					p.E59X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G175T	14						.						107.0	95.0	99.0					14																	63468133		2203	4300	6503	62537886	SO:0001587	stop_gained	27133	exon4			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.349G>T	14.37:g.63468133C>A	ENSP00000321427:p.Glu117*		62537886	NM_172376	C9JP98	Nonsense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	38	7.180420	0.98118	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.706	0.96072	0.0:1.0:0.0:0.0	.	.	.	.	X	117;117;59;59	.	ENSP00000321427:E117X	E	-	1	0	KCNH5	62537886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	GAA		0.388	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
SYNE2	23224	broad.mit.edu	37	14	64447390	64447390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:64447390G>T	ENST00000344113.4	+	15	1800	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E530*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E530*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	530					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.E530*(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)		TGAAGAAAAAGAATTCCTAGC	0.313																																					p.E530X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1588T	14						.						35.0	33.0	34.0					14																	64447390		1786	4051	5837	63517143	SO:0001587	stop_gained	23224	exon15			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1588G>T	14.37:g.64447390G>T	ENSP00000341781:p.Glu530*		63517143	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178096	0.78564	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.93	3.11	0.35812	.	0.862899	0.10116	N	0.714099	.	.	.	.	.	.	0.29596	N	0.848083	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	6.1883	0.20510	0.2216:0.1363:0.6421:0.0	.	.	.	.	X	530	.	ENSP00000261678:E530X	E	+	1	0	SYNE2	63517143	0.870000	0.30015	0.691000	0.30163	0.009000	0.06853	0.795000	0.26972	0.402000	0.25451	0.591000	0.81541	GAA		0.313	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64519713	64519713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:64519713G>T	ENST00000344113.4	+	48	9294	c.9082G>T	c.(9082-9084)Gaa>Taa	p.E3028*	SYNE2_ENST00000358025.3_Nonsense_Mutation_p.E3028*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.E3061*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3028					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.E3028*(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)		ATTTGAAAAAGAAAAGGAACT	0.313																																					p.E3028X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G9082T	14						.						50.0	50.0	50.0					14																	64519713		1793	4062	5855	63589466	SO:0001587	stop_gained	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.9082G>T	14.37:g.64519713G>T	ENSP00000341781:p.Glu3028*		63589466	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	49	15.466095	0.99834	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.69	2.35	0.29111	.	0.350626	0.24012	N	0.042375	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	5.0173	0.14343	0.2608:0.1944:0.5448:0.0	.	.	.	.	X	3028;3028;3061;3061	.	ENSP00000261678:E3061X	E	+	1	0	SYNE2	63589466	1.000000	0.71417	0.613000	0.29037	0.461000	0.32589	1.228000	0.32588	0.721000	0.32231	0.462000	0.41574	GAA		0.313	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64519940	64519940	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:64519940G>T	ENST00000344113.4	+	48	9521	c.9309G>T	c.(9307-9309)aaG>aaT	p.K3103N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K3103N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K3136N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3103					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K3103N(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATAATAAAGAAATTAAATG	0.333																																					p.K3103N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9309T	14						.						31.0	31.0	31.0					14																	64519940		1807	4064	5871	63589693	SO:0001583	missense	23224	exon48			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9309G>T	14.37:g.64519940G>T	ENSP00000341781:p.Lys3103Asn		63589693	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.485	0.457708	0.12342	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57107	0.78;0.78;0.42	5.33	2.21	0.28008	.	0.734274	0.12466	N	0.466428	T	0.31918	0.0812	N	0.17082	0.46	0.09310	N	0.999997	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.20974	-1.0259	10	0.56958	D	0.05	.	3.687	0.08332	0.2942:0.0:0.4478:0.2579	.	3103;3103	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	3103;3103;3136;3136	ENSP00000350719:K3103N;ENSP00000341781:K3103N;ENSP00000452570:K3136N	ENSP00000261678:K3136N	K	+	3	2	SYNE2	63589693	0.997000	0.39634	0.378000	0.26068	0.293000	0.27360	1.303000	0.33470	0.636000	0.30508	0.462000	0.41574	AAG		0.333	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
FUT8	2530	broad.mit.edu	37	14	66188690	66188690	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:66188690G>T	ENST00000360689.5	+	8	2760	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Nonsense_Mutation_p.E182*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.E345*|FUT8_ENST00000358307.2_Nonsense_Mutation_p.E216*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.E345*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	345	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.E345*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTAGAAAAAGAAATAGAAGA	0.448																																					p.E345X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1033T	14						.						84.0	83.0	83.0					14																	66188690		2203	4300	6503	65258443	SO:0001587	stop_gained	2530	exon7			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1033G>T	14.37:g.66188690G>T	ENSP00000353910:p.Glu345*		65258443	NM_178156	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	43	10.069586	0.99330	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.5966	17.2877	0.87146	0.0:0.0:1.0:0.0	.	.	.	.	X	345;345;182;345;216	.	ENSP00000351057:E216X	E	+	1	0	FUT8	65258443	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.668000	0.90789	0.563000	0.77884	GAA		0.448	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	
SMOC1	64093	broad.mit.edu	37	14	70490005	70490005	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:70490005G>A	ENST00000381280.4	+	11	1385	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	SMOC1_ENST00000361956.3_Missense_Mutation_p.D378N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	378	EF-hand 1.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)	p.D378N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TAGCAGCAACGACATTAACAA	0.552																																					p.D378N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1132A	14						.						117.0	106.0	110.0					14																	70490005		2203	4300	6503	69559758	SO:0001583	missense	64093	exon11			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.1132G>A	14.37:g.70490005G>A	ENSP00000370680:p.Asp378Asn		69559758	NM_001034852	A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350351	0.82132	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.56941	0.43;0.43	5.34	5.34	0.76211	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67040	0.2851	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.968	T	0.64024	-0.6504	10	0.39692	T	0.17	-24.6884	19.3898	0.94576	0.0:0.0:1.0:0.0	.	378;378	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	N	378	ENSP00000355110:D378N;ENSP00000370680:D378N	ENSP00000355110:D378N	D	+	1	0	SMOC1	69559758	1.000000	0.71417	0.957000	0.39632	0.360000	0.29518	7.743000	0.85020	2.640000	0.89533	0.655000	0.94253	GAC		0.552	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1		
ADAM21	8747	broad.mit.edu	37	14	70924700	70924700	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:70924700A>C	ENST00000603540.1	+	2	742	c.484A>C	c.(484-486)Aac>Cac	p.N162H	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.N162H	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	162					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.N162H(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)		TTATAAGATAAACAGTAATGA	0.423																																					p.N162H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A484C	14						.						39.0	49.0	45.0					14																	70924700		2183	4298	6481	69994453	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.484A>C	14.37:g.70924700A>C	ENSP00000474385:p.Asn162His		69994453	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	9.086	1.000507	0.19121	.	.	ENSG00000139985	ENST00000267499	T	0.01139	5.28	3.76	-1.69	0.08186	.	0.197979	0.24803	U	0.035465	T	0.01156	0.0038	L	0.51422	1.61	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.43845	-0.9366	10	0.49607	T	0.09	.	4.5533	0.12124	0.2799:0.0:0.5246:0.1955	.	162	Q9UKJ8	ADA21_HUMAN	H	162	ENSP00000267499:N162H	ENSP00000267499:N162H	N	+	1	0	ADAM21	69994453	0.003000	0.15002	0.054000	0.19295	0.421000	0.31385	-0.032000	0.12266	-0.160000	0.11002	-0.379000	0.06801	AAC		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
HEATR4	399671	broad.mit.edu	37	14	73965778	73965778	+	Nonsense_Mutation	SNP	G	G	A	rs114232158	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:73965778G>A	ENST00000553558.1	-	13	2674	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*	HEATR4_ENST00000560393.1_Nonsense_Mutation_p.R738*|HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R785*	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	785								p.R738*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATAATACCTCGAATGGCAAAG	0.463													G|||	56	0.0111821	0.0408	0.0029	5008	,	,		20745	0.0		0.0	False		,,,				2504	0.0				p.R738X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2212T	14						.	G	stop/ARG,stop/ARG	140,4266	98.9+/-137.6	2,136,2065	227.0	222.0	223.0		2353,2353	4.1	1.0	14	dbSNP_132	223	0,8600		0,0,4300	yes	stop-gained,stop-gained	HEATR4	NM_001220484.1,NM_203309.2	,	2,136,6365	AA,AG,GG		0.0,3.1775,1.0764	,	785/1027,785/1027	73965778	140,12866	2203	4300	6503	73035531	SO:0001587	stop_gained	399671	exon12			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2353C>T	14.37:g.73965778G>A	ENSP00000450444:p.Arg785*		73035531	NM_203309	B7Z7V9|E9KL41	Nonsense_Mutation	SNP	ENST00000553558.1	37	CCDS9815.2	23	0.010531135531135532	23	0.046747967479674794	0	0.0	0	0.0	0	0.0	G	42	9.368849	0.99150	0.031775	0.0	ENSG00000187105	ENST00000553558;ENST00000334988	.	.	.	5.02	4.06	0.47325	.	0.492618	0.15429	N	0.262809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	10.3605	0.43991	0.0:0.0:0.6653:0.3347	.	.	.	.	X	785;738	.	ENSP00000335447:R738X	R	-	1	2	HEATR4	73035531	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.720000	0.54933	2.618000	0.88619	0.655000	0.94253	CGA		0.463	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309	
ACOT6	641372	broad.mit.edu	37	14	74086276	74086276	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:74086276C>A	ENST00000381139.1	+	2	688	c.357C>A	c.(355-357)ttC>ttA	p.F119L	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	119						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		AGAGTGAATTCTATGCTCAGA	0.443																																					p.F119L												.	.	0			c.C357A	14						.						66.0	64.0	65.0					14																	74086276		2203	4300	6503	73156029	SO:0001583	missense	641372	exon2			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.357C>A	14.37:g.74086276C>A	ENSP00000370531:p.Phe119Leu		73156029	NM_001037162		Missense_Mutation	SNP	ENST00000381139.1	37	CCDS32118.1	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904724	0.17760	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.29142	1.58;1.58	5.8	2.91	0.33838	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.747822	0.13488	N	0.384181	T	0.20414	0.0491	L	0.33245	0.995	0.41921	D	0.990516	B	0.12013	0.005	B	0.10450	0.005	T	0.05419	-1.0886	10	0.08599	T	0.76	-2.6393	9.8134	0.40838	0.2508:0.6839:0.0:0.0653	.	119	Q3I5F7	ACOT6_HUMAN	L	119	ENSP00000451464:F119L;ENSP00000370531:F119L	ENSP00000370531:F119L	F	+	3	2	ACOT6	73156029	0.227000	0.23707	0.751000	0.31187	0.789000	0.44602	0.368000	0.20399	0.327000	0.23409	0.561000	0.74099	TTC		0.443	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414437.1	NM_001037162	
YLPM1	56252	broad.mit.edu	37	14	75282966	75282966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:75282966C>T	ENST00000552421.1	+	11	3569	c.3445C>T	c.(3445-3447)Cga>Tga	p.R1149*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.R1855*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1660*			P49750	YLPM1_HUMAN	YLP motif containing 1	1660	Arg-rich.				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.R1855*(1)|p.R1660*(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)		AAAACTTATTCGAGTGAGTAT	0.363																																					p.R1855X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5563T	14						.						110.0	105.0	106.0					14																	75282966		1885	4118	6003	74352719	SO:0001587	stop_gained	56252	exon12			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.3445C>T	14.37:g.75282966C>T	ENSP00000447921:p.Arg1149*		74352719	NM_019589	P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37		.	.	.	.	.	.	.	.	.	.	C	43	10.146070	0.99346	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1213	12.6949	0.56997	0.2753:0.7247:0.0:0.0	.	.	.	.	X	1149;1855;1660;1568;264	.	ENSP00000238571:R1660X	R	+	1	2	YLPM1	74352719	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.961000	0.49168	2.634000	0.89283	0.563000	0.77884	CGA		0.363	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589	
MLH3	27030	broad.mit.edu	37	14	75514603	75514603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:75514603C>A	ENST00000556740.1	-	1	1791	c.1756G>T	c.(1756-1758)Gaa>Taa	p.E586*	MLH3_ENST00000556257.1_Nonsense_Mutation_p.E586*|MLH3_ENST00000355774.2_Nonsense_Mutation_p.E586*|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Nonsense_Mutation_p.E586*|MLH3_ENST00000555671.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	586					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.A577_S588delAQTEKEKKKESS(2)|p.E586*(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)		TTGCTAGATTCTTTTTTTTTC	0.358								Mismatch excision repair (MMR)																													p.E586X												.	.	3	Deletion - In frame(2)|Substitution - Nonsense(1)	breast(2)|large_intestine(1)	c.G1756T	14						.						116.0	117.0	117.0					14																	75514603		2203	4300	6503	74584356	SO:0001587	stop_gained	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.1756G>T	14.37:g.75514603C>A	ENSP00000452316:p.Glu586*		74584356	NM_001040108	P49751|Q56DK9|Q9P292|Q9UHC0	Nonsense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454529	0.84209	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	.	.	.	5.81	4.0	0.46444	.	0.607834	0.17195	N	0.183351	.	.	.	.	.	.	0.26897	N	0.967209	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-9.0144	10.117	0.42596	0.0:0.7832:0.1445:0.0724	.	.	.	.	X	586	.	ENSP00000238662:E586X	E	-	1	0	MLH3	74584356	0.006000	0.16342	0.087000	0.20705	0.197000	0.23852	0.915000	0.28638	0.805000	0.34159	0.591000	0.81541	GAA		0.358	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
ACYP1	97	broad.mit.edu	37	14	75530218	75530218	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:75530218T>G	ENST00000238618.3	-	2	142	c.39A>C	c.(37-39)gaA>gaC	p.E13D	ACYP1_ENST00000555463.1_Missense_Mutation_p.E43D|ACYP1_ENST00000555135.1_Missense_Mutation_p.E13D|ACYP1_ENST00000357971.3_Missense_Mutation_p.E13D|ACYP1_ENST00000555694.1_Missense_Mutation_p.E13D|ACYP1_ENST00000553302.1_Missense_Mutation_p.E13D	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	13	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)	p.E13D(1)		large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		TCCCAAAAATTTCATAATCCA	0.483																																					p.E13D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A39C	14						.						146.0	130.0	135.0					14																	75530218		2203	4300	6503	74599971	SO:0001583	missense	97	exon2			X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.39A>C	14.37:g.75530218T>G	ENSP00000238618:p.Glu13Asp		74599971	NM_203488	A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	37	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999716	0.74818	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000357971;ENST00000555694;ENST00000555135;ENST00000553302	.	.	.	5.64	-0.765	0.11023	Acylphosphatase-like (3);	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	.	.	.	0.42825	D	0.994004	D;P	0.89917	1.0;0.543	D;B	0.79108	0.992;0.287	T	0.67035	-0.5772	8	0.72032	D	0.01	-21.3872	7.0376	0.25002	0.0:0.3414:0.1179:0.5407	.	13;13	P07311;A6NDV8	ACYP1_HUMAN;.	D	13;43;13;13;13;13	.	ENSP00000238618:E13D	E	-	3	2	ACYP1	74599971	0.951000	0.32395	0.275000	0.24674	0.874000	0.50279	0.825000	0.27393	-0.255000	0.09486	-0.256000	0.11100	GAA		0.483	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1		
FLVCR2	55640	broad.mit.edu	37	14	76101259	76101259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:76101259G>T	ENST00000238667.4	+	5	1383	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*	FLVCR2_ENST00000555027.1_Nonsense_Mutation_p.E58*|FLVCR2_ENST00000539311.1_Nonsense_Mutation_p.E138*|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Nonsense_Mutation_p.E91*	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	343					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.E343*(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAGGGGGAAGAAGTGAATGC	0.522																																					p.E343X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1027T	14						.						110.0	92.0	98.0					14																	76101259		2203	4300	6503	75171012	SO:0001587	stop_gained	55640	exon5			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1027G>T	14.37:g.76101259G>T	ENSP00000238667:p.Glu343*		75171012	NM_017791	B7Z485|Q53ZT9|Q96JY3|Q9NX90	Nonsense_Mutation	SNP	ENST00000238667.4	37	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	G	38	6.689813	0.97764	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000553587;ENST00000554580;ENST00000555027	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.664	18.3372	0.90293	0.0:0.0:1.0:0.0	.	.	.	.	X	343;138;44;91;43;58	.	ENSP00000238667:E343X	E	+	1	0	AC007182.1	75171012	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.153000	0.94687	2.630000	0.89119	0.591000	0.81541	GAA		0.522	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791	
ADCK1	57143	broad.mit.edu	37	14	78365590	78365590	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:78365590G>T	ENST00000238561.5	+	6	829	c.730G>T	c.(730-732)Gac>Tac	p.D244Y	ADCK1_ENST00000341211.5_Missense_Mutation_p.D176Y	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	251	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CAGGCATTTTGACTTCTTGAA	0.522																																					p.D176Y												.	.	0			c.G526T	14						.						146.0	128.0	134.0					14																	78365590		2203	4300	6503	77435343	SO:0001583	missense	57143	exon5			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.730G>T	14.37:g.78365590G>T	ENSP00000238561:p.Asp244Tyr		77435343	NM_001142545	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947988	0.53186	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.55760	0.5;0.5;0.5	5.61	5.61	0.85477	.	0.605300	0.19242	N	0.119149	T	0.62600	0.2441	M	0.78223	2.4	0.32289	N	0.5666	P;P	0.41978	0.767;0.742	P;B	0.49637	0.617;0.309	T	0.73199	-0.4058	10	0.59425	D	0.04	-0.4087	8.8844	0.35394	0.0745:0.0:0.7761:0.1495	.	176;244	Q9UIE6;Q86TW2-2	.;.	Y	244;244;176	ENSP00000238561:D244Y;ENSP00000451549:D244Y;ENSP00000339663:D176Y	ENSP00000238561:D244Y	D	+	1	0	ADCK1	77435343	0.979000	0.34478	1.000000	0.80357	0.935000	0.57460	0.815000	0.27253	2.641000	0.89580	0.591000	0.81541	GAC		0.522	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
ADCK1	57143	broad.mit.edu	37	14	78392125	78392125	+	Missense_Mutation	SNP	C	C	T	rs372281167		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:78392125C>T	ENST00000238561.5	+	9	1126	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	ADCK1_ENST00000341211.5_Missense_Mutation_p.R275C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	350	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R343C(1)|p.R275C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGAAGAATTCCGCCTGAATTA	0.587																																					p.R275C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C823T	14						.						66.0	69.0	68.0					14																	78392125		2203	4300	6503	77461878	SO:0001583	missense	57143	exon8			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1027C>T	14.37:g.78392125C>T	ENSP00000238561:p.Arg343Cys		77461878	NM_001142545	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	ENST00000238561.5	37	CCDS9869.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438637	0.62955	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.32753	1.44;1.44	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.69922	0.3165	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.995;0.995	T	0.81120	-0.1077	10	0.87932	D	0	-33.0312	18.8748	0.92331	0.0:1.0:0.0:0.0	.	350;275;343	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	C	343;275	ENSP00000238561:R343C;ENSP00000339663:R275C	ENSP00000238561:R343C	R	+	1	0	ADCK1	77461878	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	3.020000	0.49643	2.461000	0.83175	0.643000	0.83706	CGC		0.587	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421	
DIO2	1734	broad.mit.edu	37	14	80669239	80669239	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:80669239C>T	ENST00000557010.1	-	4	1000	c.615G>A	c.(613-615)ccG>ccA	p.P205P	DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Silent_p.P241P|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.P205P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	205					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P205P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G615A	14						.						73.0	76.0	75.0					14																	80669239		2048	4194	6242	79738992	SO:0001819	synonymous_variant	1734	exon3			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.615G>A	14.37:g.80669239C>T		1200	79738992	NM_000793	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557010.1	37	CCDS45146.1																																																																																				0.537	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2		
FLRT2	23768	broad.mit.edu	37	14	86088030	86088030	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:86088030C>T	ENST00000330753.4	+	2	939	c.172C>T	c.(172-174)Cct>Tct	p.P58S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P58S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	58	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.P58S(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)		GACCTCAGTGCCTCTTGGGAT	0.522																																					p.P58S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	14						.						139.0	127.0	131.0					14																	86088030		2203	4300	6503	85157783	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.172C>T	14.37:g.86088030C>T	ENSP00000332879:p.Pro58Ser		85157783	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363094	0.95877	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.99857	-7.22;-7.22	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99902	0.9953	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96563	0.9417	10	0.87932	D	0	-11.1612	19.9036	0.96999	0.0:1.0:0.0:0.0	.	58	O43155	FLRT2_HUMAN	S	58	ENSP00000332879:P58S;ENSP00000451050:P58S	ENSP00000332879:P58S	P	+	1	0	FLRT2	85157783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.817000	0.86213	2.706000	0.92434	0.655000	0.94253	CCT		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
PTPN21	11099	broad.mit.edu	37	14	88967680	88967680	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:88967680T>G	ENST00000556564.1	-	7	904	c.620A>C	c.(619-621)tAc>tCc	p.Y207S	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.Y207S|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	207	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.Y207S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCTGCATGTACAGCATTTC	0.448																																					p.Y207S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A620C	14						.						163.0	163.0	163.0					14																	88967680		2203	4300	6503	88037433	SO:0001583	missense	11099	exon7			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.620A>C	14.37:g.88967680T>G	ENSP00000452414:p.Tyr207Ser		88037433	NM_007039		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187762	0.78789	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.85171	-1.95;-1.95	5.34	4.16	0.48862	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.077869	0.53938	D	0.000051	D	0.93789	0.8014	H	0.94306	3.52	0.42271	D	0.992055	D	0.89917	1.0	D	0.91635	0.999	D	0.94112	0.7372	10	0.87932	D	0	.	11.2034	0.48754	0.1377:0.0:0.0:0.8623	.	207	Q16825	PTN21_HUMAN	S	207	ENSP00000330276:Y207S;ENSP00000452414:Y207S	ENSP00000330276:Y207S	Y	-	2	0	PTPN21	88037433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.704000	0.68347	0.827000	0.34685	0.533000	0.62120	TAC		0.448	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1		
NRDE2	55051	broad.mit.edu	37	14	90769221	90769221	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:90769221C>T	ENST00000354366.3	-	6	1486	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	NRDE2_ENST00000357904.3_Nonsense_Mutation_p.W187*	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	418								p.W418*(1)									GGTATTTCTGCCAAAGGGCTG	0.423																																					p.W418X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1254A	14						.						69.0	74.0	72.0					14																	90769221		2203	4299	6502	89838974	SO:0001587	stop_gained	55051	exon6			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1254G>A	14.37:g.90769221C>T	ENSP00000346335:p.Trp418*		89838974	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Nonsense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	41	8.802573	0.98960	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9142	19.4407	0.94820	0.0:1.0:0.0:0.0	.	.	.	.	X	418;187	.	ENSP00000346335:W418X	W	-	3	0	C14orf102	89838974	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.731000	0.84895	2.586000	0.87340	0.650000	0.86243	TGG		0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
NRDE2	55051	broad.mit.edu	37	14	90784373	90784373	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:90784373A>G	ENST00000354366.3	-	2	381	c.149T>C	c.(148-150)gTt>gCt	p.V50A	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	50								p.V50A(1)									CCCTTCAGAAACATGGGCTGG	0.448																																					p.V50A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T149C	14						.						147.0	135.0	139.0					14																	90784373		2203	4300	6503	89854126	SO:0001583	missense	55051	exon2			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.149T>C	14.37:g.90784373A>G	ENSP00000346335:p.Val50Ala		89854126	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	A	3.476	-0.106856	0.06924	.	.	ENSG00000119720	ENST00000354366	T	0.20738	2.05	5.14	-0.309	0.12769	.	0.663610	0.13371	N	0.392888	T	0.08670	0.0215	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	10	0.08599	T	0.76	-7.437	5.4423	0.16515	0.4091:0.0:0.444:0.1468	.	50	Q9H7Z3	CN102_HUMAN	A	50	ENSP00000346335:V50A	ENSP00000346335:V50A	V	-	2	0	C14orf102	89854126	0.000000	0.05858	0.006000	0.13384	0.362000	0.29581	-0.106000	0.10890	0.028000	0.15324	0.455000	0.32223	GTT		0.448	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
TTC7B	145567	broad.mit.edu	37	14	91196424	91196424	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:91196424T>C	ENST00000328459.6	-	5	814	c.693A>G	c.(691-693)aaA>aaG	p.K231K	TTC7B_ENST00000357056.2_Silent_p.K231K	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	231								p.K231K(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTACCCATTTTTGAAATAGA	0.393																																					p.K231K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A693G	14						.						88.0	100.0	96.0					14																	91196424		2203	4300	6503	90266177	SO:0001819	synonymous_variant	145567	exon5			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.693A>G	14.37:g.91196424T>C			90266177	NM_001010854	Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	CCDS32140.1																																																																																				0.393	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2		
TRIP11	9321	broad.mit.edu	37	14	92465697	92465697	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:92465697A>C	ENST00000267622.4	-	13	5152	c.4779T>G	c.(4777-4779)gaT>gaG	p.D1593E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1593					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.D1593E(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)		GGGTATAAGAATCTTCTGATT	0.378			T	PDGFRB	AML																																p.D1593E	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.T4779G	14						.						108.0	98.0	102.0					14																	92465697		2203	4300	6503	91535450	SO:0001583	missense	9321	exon13			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.4779T>G	14.37:g.92465697A>C	ENSP00000267622:p.Asp1593Glu		91535450	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.72|15.72	2.917156|2.917156	0.52546|0.52546	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.03663|.	3.85|.	5.27|5.27	2.97|2.97	0.34412|0.34412	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42517|0.42517	0.1206|0.1206	L|L	0.35288|0.35288	1.05|1.05	0.39897|0.39897	D|D	0.973845|0.973845	D;D|.	0.89917|.	1.0;0.982|.	D;D|.	0.91635|.	0.999;0.914|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.25106|.	T|.	0.35|.	.|.	5.257|5.257	0.15552|0.15552	0.562:0.0:0.438:0.0|0.562:0.0:0.438:0.0	.|.	1329;1593|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	E|V	1593;1329|1309	ENSP00000267622:D1593E|.	ENSP00000267622:D1593E|.	D|F	-|-	3|1	2|0	TRIP11|TRIP11	91535450|91535450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.021000|1.021000	0.30040|0.30040	0.867000|0.867000	0.35654|0.35654	0.533000|0.533000	0.62120|0.62120	GAT|TTC		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
ASB2	51676	broad.mit.edu	37	14	94417349	94417349	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:94417349C>T	ENST00000315988.4	-	4	1220	c.732G>A	c.(730-732)aaG>aaA	p.K244K	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000555019.1_Silent_p.K292K|MIR4506_ENST00000584693.1_RNA	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	244					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.K244K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		ACTCACCGTACTTGGCTAAGA	0.587																																					p.K244K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G732A	14						.						217.0	211.0	213.0					14																	94417349		2203	4300	6503	93487102	SO:0001819	synonymous_variant	51676	exon4			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.732G>A	14.37:g.94417349C>T			93487102	NM_016150	B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	CCDS9915.1																																																																																				0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
SERPINA6	866	broad.mit.edu	37	14	94780644	94780644	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:94780644T>G	ENST00000341584.3	-	2	488	c.342A>C	c.(340-342)caA>caC	p.Q114H		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	114					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)	p.Q114H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTGCAAAGAGTTGGTGCAGGT	0.542																																					p.Q114H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A342C	14						.						69.0	67.0	67.0					14																	94780644		2203	4300	6503	93850397	SO:0001583	missense	866	exon2			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.342A>C	14.37:g.94780644T>G	ENSP00000342850:p.Gln114His		93850397	NM_001756	A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	T	0.242	-1.012895	0.02095	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.84370	-1.84;-1.84	5.07	-2.0	0.07433	Serpin domain (3);	0.520428	0.18065	N	0.152801	T	0.51568	0.1682	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51865	-0.8651	10	0.15952	T	0.53	.	2.8923	0.05680	0.2439:0.2874:0.3663:0.1024	.	114	P08185	CBG_HUMAN	H	114	ENSP00000342850:Q114H;ENSP00000452018:Q114H	ENSP00000342850:Q114H	Q	-	3	2	SERPINA6	93850397	0.001000	0.12720	0.001000	0.08648	0.334000	0.28698	-0.193000	0.09573	-0.212000	0.10109	-0.445000	0.05633	CAA		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756	
SERPINA1	5265	broad.mit.edu	37	14	94849350	94849350	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:94849350G>T	ENST00000448921.1	-	4	797	c.225C>A	c.(223-225)ttC>ttA	p.F75L	SERPINA1_ENST00000440909.1_Missense_Mutation_p.F75L|SERPINA1_ENST00000402629.1_Missense_Mutation_p.F75L|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393087.4_Missense_Mutation_p.F75L|SERPINA1_ENST00000355814.4_Missense_Mutation_p.F75L|SERPINA1_ENST00000437397.1_Missense_Mutation_p.F75L|SERPINA1_ENST00000449399.3_Missense_Mutation_p.F75L|SERPINA1_ENST00000404814.4_Missense_Mutation_p.F75L|SERPINA1_ENST00000393088.4_Missense_Mutation_p.F75L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	75			Missing (in M-Malton, M-Nichinan and M- Palermo; associated with very low serum levels of AAT; homozygosity for allele M- Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis). {ECO:0000269|PubMed:2309708, ECO:0000269|PubMed:2606478, ECO:0000269|PubMed:2786335}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F75L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTGGGGAGAAGAAGATATTGG	0.542																																					p.F75L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C225A	14						.						164.0	137.0	146.0					14																	94849350		2203	4300	6503	93919103	SO:0001583	missense	5265	exon3			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.225C>A	14.37:g.94849350G>T	ENSP00000416066:p.Phe75Leu		93919103	NM_001127702	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242430	0.58995	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000556091;ENST00000557492;ENST00000556955;ENST00000553327	D;D;D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.94	2.95	0.34219	Serpin domain (3);	0.074506	0.56097	N	0.000026	T	0.81781	0.4895	M	0.67517	2.055	0.42689	D	0.993577	B;B	0.32543	0.215;0.375	B;B	0.39465	0.114;0.3	T	0.77236	-0.2662	10	0.48119	T	0.1	.	2.4301	0.04470	0.2048:0.1328:0.5252:0.1373	.	75;75	P01009-2;P01009	.;A1AT_HUMAN	L	75	ENSP00000390299:F75L;ENSP00000416066:F75L;ENSP00000408474:F75L;ENSP00000348068:F75L;ENSP00000376802:F75L;ENSP00000376803:F75L;ENSP00000385960:F75L;ENSP00000416354:F75L;ENSP00000386094:F75L;ENSP00000452169:F75L;ENSP00000452452:F75L;ENSP00000451098:F75L;ENSP00000452480:F75L	ENSP00000348068:F75L	F	-	3	2	SERPINA1	93919103	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.167000	0.42415	0.835000	0.34877	0.561000	0.74099	TTC		0.542	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
SERPINA4	5267	broad.mit.edu	37	14	95033573	95033573	+	Missense_Mutation	SNP	C	C	T	rs143608450	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:95033573C>T	ENST00000557004.1	+	3	1337	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	SERPINA4_ENST00000555095.1_Missense_Mutation_p.R306W|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R306W			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	306					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R306W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAACTTGTTGCGGAAGAGGTA	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		21498	0.002		0.0	False		,,,				2504	0.0				p.R306W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C916T	14						.	C	TRP/ARG	0,4406		0,0,2203	80.0	81.0	81.0		916	-0.1	0.0	14	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SERPINA4	NM_006215.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	306/428	95033573	2,13004	2203	4300	6503	94103326	SO:0001583	missense	5267	exon3			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.916C>T	14.37:g.95033573C>T	ENSP00000450838:p.Arg306Trp		94103326	NM_006215	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	CCDS9927.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.69	2.907164	0.52333	0.0	2.33E-4	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84944	-1.92;-1.92;-1.92	4.56	-0.0731	0.13736	Serpin domain (3);	2.512550	0.01659	N	0.025009	D	0.90048	0.6892	L	0.58669	1.825	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.66351	0.892;0.943	T	0.74216	-0.3737	10	0.72032	D	0.01	.	8.1407	0.31082	0.454:0.3986:0.1474:0.0	.	306;306	B2R815;P29622	.;KAIN_HUMAN	W	306	ENSP00000450838:R306W;ENSP00000451172:R306W;ENSP00000298841:R306W	ENSP00000298841:R306W	R	+	1	2	SERPINA4	94103326	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-1.854000	0.01664	0.062000	0.16340	0.561000	0.74099	CGG		0.433	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215	
SERPINA5	5104	broad.mit.edu	37	14	95053811	95053811	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:95053811G>A	ENST00000554866.1	+	2	226	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	SERPINA5_ENST00000329597.7_Missense_Mutation_p.A38T|SERPINA5_ENST00000553780.1_Missense_Mutation_p.A38T|SERPINA5_ENST00000554276.1_Missense_Mutation_p.A38T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	38					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A38T(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCATGTAGGTGCCACGGTGGC	0.627																																					p.A38T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	14						.						57.0	56.0	56.0					14																	95053811		2203	4300	6503	94123564	SO:0001583	missense	5104	exon3			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.112G>A	14.37:g.95053811G>A	ENSP00000451126:p.Ala38Thr		94123564	NM_000624	Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	9.095	1.002632	0.19121	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;T;T;T;T;D;T	0.87809	-1.6;-1.6;-2.3;-1.6;-1.6;-0.83;-0.83;-0.83;-0.83;-1.6;-0.83	4.2	-1.68	0.08212	Serpin domain (1);	2.252930	0.01645	N	0.024261	T	0.73171	0.3553	N	0.08118	0	0.09310	N	1	B;B	0.20459	0.005;0.045	B;B	0.18263	0.005;0.021	T	0.61486	-0.7053	10	0.22109	T	0.4	.	6.1286	0.20194	0.144:0.1205:0.7355:0.0	.	38;38	G3V5Q9;P05154	.;IPSP_HUMAN	T	38	ENSP00000450484:A38T;ENSP00000450837:A38T;ENSP00000452469:A38T;ENSP00000451126:A38T;ENSP00000333203:A38T;ENSP00000450745:A38T;ENSP00000451215:A38T;ENSP00000451697:A38T;ENSP00000451650:A38T;ENSP00000451610:A38T;ENSP00000450485:A38T	ENSP00000333203:A38T	A	+	1	0	SERPINA5	94123564	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.688000	0.05150	-0.442000	0.07190	-0.305000	0.09177	GCC		0.627	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624	
CLMN	79789	broad.mit.edu	37	14	95669990	95669990	+	Missense_Mutation	SNP	A	A	C	rs201614969		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:95669990A>C	ENST00000298912.4	-	9	1809	c.1696T>G	c.(1696-1698)Ttt>Gtt	p.F566V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	566					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F566V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCGCTGTTAAATTTTGAGGCT	0.433																																					p.F566V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1696G	14						.						80.0	81.0	80.0					14																	95669990		2203	4300	6503	94739743	SO:0001583	missense	79789	exon9			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1696T>G	14.37:g.95669990A>C	ENSP00000298912:p.Phe566Val		94739743	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	A	8.854	0.945284	0.18356	.	.	ENSG00000165959	ENST00000298912	D	0.92595	-3.07	5.76	1.6	0.23607	.	0.000000	0.42172	D	0.000745	D	0.86830	0.6027	M	0.64997	1.995	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.76255	-0.3026	10	0.42905	T	0.14	.	3.539	0.07804	0.5696:0.1955:0.2349:0.0	.	566	Q96JQ2	CLMN_HUMAN	V	566	ENSP00000298912:F566V	ENSP00000298912:F566V	F	-	1	0	CLMN	94739743	0.055000	0.20627	0.098000	0.21074	0.046000	0.14306	0.969000	0.29370	1.001000	0.39076	0.533000	0.62120	TTT		0.433	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
SYNE3	161176	broad.mit.edu	37	14	95922049	95922049	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:95922049C>A	ENST00000334258.5	-	5	816	c.802G>T	c.(802-804)Gat>Tat	p.D268Y	SYNE3_ENST00000553340.1_Missense_Mutation_p.D268Y|SYNE3_ENST00000554873.1_Missense_Mutation_p.D25Y|SYNE3_ENST00000557275.1_Missense_Mutation_p.D268Y	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	268					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.D268Y(1)		breast(1)|endometrium(2)|lung(25)	28						CTGGGAAAATCTTTGGCAATG	0.547																																					p.D268Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802T	14						.						51.0	56.0	54.0					14																	95922049		2203	4300	6503	94991802	SO:0001583	missense	161176	exon5			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.802G>T	14.37:g.95922049C>A	ENSP00000334308:p.Asp268Tyr		94991802	NM_152592	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477691	0.26511	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.17213	3.46;2.29;3.45;2.89	4.99	4.09	0.47781	.	0.173062	0.27388	N	0.019599	T	0.36110	0.0955	M	0.72118	2.19	0.09310	N	0.999999	D;D;D	0.76494	0.999;0.996;0.999	D;D;P	0.65684	0.937;0.922;0.907	T	0.11743	-1.0575	10	0.62326	D	0.03	-4.6247	9.8866	0.41266	0.0:0.7796:0.1418:0.0785	.	268;268;268	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Y	268;25;268;268	ENSP00000334308:D268Y;ENSP00000452154:D25Y;ENSP00000450562:D268Y;ENSP00000450774:D268Y	ENSP00000334308:D268Y	D	-	1	0	C14orf49	94991802	0.063000	0.20901	0.009000	0.14445	0.166000	0.22503	1.923000	0.40055	1.081000	0.41110	0.455000	0.32223	GAT		0.547	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
SETD3	84193	broad.mit.edu	37	14	99879329	99879329	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:99879329G>T	ENST00000331768.5	-	8	967	c.808C>A	c.(808-810)Ctg>Atg	p.L270M	SETD3_ENST00000436070.2_Missense_Mutation_p.L270M|SETD3_ENST00000329331.3_Missense_Mutation_p.L270M	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	270	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.L270M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AAAGGAATCAGAGCCAGGGTC	0.483																																					p.L270M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C808A	14						.						154.0	143.0	147.0					14																	99879329		2203	4300	6503	98949082	SO:0001583	missense	84193	exon8			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.808C>A	14.37:g.99879329G>T	ENSP00000327436:p.Leu270Met		98949082	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944548	0.73672	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.29917	1.55;1.55;1.55	4.97	4.07	0.47477	SET domain (1);	0.000000	0.64402	D	0.000003	T	0.47911	0.1471	M	0.62209	1.925	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.988;0.999;0.997	T	0.41305	-0.9516	10	0.51188	T	0.08	-3.0096	8.6952	0.34291	0.1685:0.0:0.8315:0.0	.	270;270;270	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	M	270	ENSP00000327436:L270M;ENSP00000327910:L270M;ENSP00000408602:L270M	ENSP00000327910:L270M	L	-	1	2	SETD3	98949082	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	3.823000	0.55715	2.454000	0.82982	0.650000	0.86243	CTG		0.483	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
WDR25	79446	broad.mit.edu	37	14	100847303	100847303	+	Silent	SNP	G	G	A	rs368854339		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:100847303G>A	ENST00000335290.6	+	2	268	c.42G>A	c.(40-42)gcG>gcA	p.A14A	WDR25_ENST00000554998.1_Silent_p.A14A|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000402312.3_Silent_p.A14A|WDR25_ENST00000554175.1_Silent_p.A14A	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	14								p.A14A(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CATTGGTAGCGTATGATGATT	0.483																																					p.A14A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G42A	14						.	G	,	0,4406		0,0,2203	109.0	94.0	99.0		42,42	-5.8	0.4	14		99	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	WDR25	NM_001161476.1,NM_024515.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	14/545,14/545	100847303	1,13005	2203	4300	6503	99917056	SO:0001819	synonymous_variant	79446	exon2			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.42G>A	14.37:g.100847303G>A			99917056	NM_001161476	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	CCDS32157.1																																																																																				0.483	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515	
BAG5	9529	broad.mit.edu	37	14	104026640	104026640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr14:104026640C>A	ENST00000445922.2	-	2	1108	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000337322.4_Nonsense_Mutation_p.E329*|RP11-73M18.2_ENST00000472726.2_5'Flank|BAG5_ENST00000299204.4_Nonsense_Mutation_p.E288*|APOPT1_ENST00000247618.4_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	288	BAG 4. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.E288*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TTTTTTATTTCTCTCATTCTC	0.373																																					p.E288X	NSCLC(171;1832 2055 18950 31566 41632)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G862T	14						.						94.0	101.0	99.0					14																	104026640		2203	4300	6503	103096393	SO:0001587	stop_gained	9529	exon2			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.862G>T	14.37:g.104026640C>A	ENSP00000391713:p.Glu288*		103096393	NM_001015048	O94950|Q86W59	Nonsense_Mutation	SNP	ENST00000445922.2	37	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	C	37	5.992948	0.97179	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322	.	.	.	5.65	4.77	0.60923	.	0.647217	0.15797	N	0.244149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-32.3866	10.5004	0.44802	0.0:0.8534:0.0:0.1466	.	.	.	.	X	288;288;329	.	ENSP00000299204:E288X	E	-	1	0	BAG5	103096393	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	2.747000	0.47475	1.398000	0.46701	0.655000	0.94253	GAA		0.373	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1		
CECR2	27443	broad.mit.edu	37	22	17978513	17978513	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:17978513C>A	ENST00000400573.5	+	4	418	c.411C>A	c.(409-411)ttC>ttA	p.F137L	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.F118L|CECR2_ENST00000342247.5_Missense_Mutation_p.F117L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	159					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.F137L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ATTGGTATTTCTATGGAACAC	0.483																																					p.S118Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353A	22						.						84.0	80.0	82.0					22																	17978513		1861	4102	5963	16358513	SO:0001583	missense	27443	exon3			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.411C>A	22.37:g.17978513C>A	ENSP00000383417:p.Phe137Leu		16358513	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400573.5	37		.	.	.	.	.	.	.	.	.	.	C	23.8	4.462504	0.84425	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.40756	1.02;1.02;1.02	6.01	1.57	0.23409	.	0.000000	0.37809	U	0.001922	T	0.59636	0.2208	M	0.76574	2.34	0.39456	D	0.967484	D	0.69078	0.997	D	0.75020	0.985	T	0.61734	-0.7002	10	0.87932	D	0	-11.3464	10.3322	0.43829	0.0:0.6819:0.0:0.3181	.	159	Q9BXF3	CECR2_HUMAN	L	117;137;118	ENSP00000341219:F117L;ENSP00000383417:F137L;ENSP00000262608:F118L	ENSP00000262608:F118L	F	+	3	2	CECR2	16358513	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.773000	0.26661	0.134000	0.18681	0.655000	0.94253	TTC		0.483	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316104.5	NM_031413	
CECR2	27443	broad.mit.edu	37	22	18022359	18022359	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:18022359C>T	ENST00000400585.2	+	16	2476	c.2038C>T	c.(2038-2040)Ccc>Tcc	p.P680S	CECR2_ENST00000262608.8_Missense_Mutation_p.P822S|CECR2_ENST00000400573.5_Missense_Mutation_p.P821S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	863					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.P821S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CATGCGACCGCCCTGCAAGTC	0.602																																					p.R821R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2463T	22						.						64.0	68.0	67.0					22																	18022359		2075	4211	6286	16402359	SO:0001583	missense	27443	exon15			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2038C>T	22.37:g.18022359C>T	ENSP00000383428:p.Pro680Ser		16402359	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380996	0.42207	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.36340	1.34;1.34;1.26	5.29	4.27	0.50696	.	0.118599	0.38164	N	0.001783	T	0.38719	0.1051	M	0.67953	2.075	0.40583	D	0.981418	P;P;P	0.39060	0.518;0.657;0.657	B;B;B	0.37650	0.115;0.255;0.255	T	0.41431	-0.9509	10	0.45353	T	0.12	-4.8339	14.5598	0.68128	0.0:0.8545:0.1455:0.0	.	863;680;821	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	S	680;821;822	ENSP00000383428:P680S;ENSP00000383417:P821S;ENSP00000262608:P822S	ENSP00000262608:P822S	P	+	1	0	CECR2	16402359	0.990000	0.36364	0.862000	0.33874	0.587000	0.36485	3.047000	0.49854	1.460000	0.47911	0.561000	0.74099	CCC		0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
CECR2	27443	broad.mit.edu	37	22	18028688	18028688	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:18028688C>A	ENST00000400585.2	+	17	3657	c.3219C>A	c.(3217-3219)ttC>ttA	p.F1073L	CECR2_ENST00000262608.8_Missense_Mutation_p.F1216L|CECR2_ENST00000400573.5_Missense_Mutation_p.F1215L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1257					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGTCCCTCTTCTCAGATAAGA	0.567																																					p.S1216Y												.	.	0			c.C3647A	22						.						63.0	66.0	65.0					22																	18028688		1988	4151	6139	16408688	SO:0001583	missense	27443	exon16			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3219C>A	22.37:g.18028688C>A	ENSP00000383428:p.Phe1073Leu		16408688	NM_031413	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37		.	.	.	.	.	.	.	.	.	.	C	17.36	3.370299	0.61624	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.29655	1.83;1.67;1.56	4.78	2.62	0.31277	.	0.115299	0.38897	N	0.001521	T	0.49949	0.1587	M	0.69823	2.125	0.40495	D	0.980585	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.70716	0.97;0.97;0.97	T	0.48317	-0.9046	10	0.42905	T	0.14	-16.7983	11.5428	0.50675	0.0:0.8504:0.0:0.1496	.	1257;1073;1215	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1073;1215;1216	ENSP00000383428:F1073L;ENSP00000383417:F1215L;ENSP00000262608:F1216L	ENSP00000262608:F1216L	F	+	3	2	CECR2	16408688	0.996000	0.38824	0.511000	0.27724	0.864000	0.49448	2.071000	0.41500	0.527000	0.28560	0.555000	0.69702	TTC		0.567	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
IGLL1	3543	broad.mit.edu	37	22	23915765	23915765	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:23915765G>T	ENST00000330377.2	-	3	447	c.330C>A	c.(328-330)ccC>ccA	p.P110P	IGLL1_ENST00000249053.3_Missense_Mutation_p.Q72K|AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	110	C region (By similarity to lambda light- chain).				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.P110P(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGGTGGCCTTGGGCTGACCTG	0.577																																					p.Q72K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C214A	22						.						45.0	43.0	44.0					22																	23915765		2203	4300	6503	22245765	SO:0001819	synonymous_variant	3543	exon2			X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.330C>A	22.37:g.23915765G>T			22245765	NM_152855	Q0P681	Missense_Mutation	SNP	ENST00000330377.2	37	CCDS13809.1	.	.	.	.	.	.	.	.	.	.	-	0.268	-0.994883	0.02145	.	.	ENSG00000128322	ENST00000249053	.	.	.	2.45	1.29	0.21616	.	.	.	.	.	T	0.28863	0.0716	.	.	.	0.35274	D	0.780761	P	0.39424	0.673	B	0.26614	0.071	T	0.33979	-0.9847	7	0.87932	D	0	.	4.9963	0.14242	0.0:0.2351:0.5257:0.2392	.	72	Q0P681	.	K	72	.	ENSP00000249053:Q72K	Q	-	1	0	IGLL1	22245765	0.886000	0.30341	0.520000	0.27837	0.027000	0.11550	0.765000	0.26546	0.291000	0.22468	0.165000	0.16767	CAA		0.577	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319569.1	NM_020070	
ZNF70	7621	broad.mit.edu	37	22	24086597	24086597	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:24086597C>A	ENST00000341976.3	-	2	1191	c.731G>T	c.(730-732)aGa>aTa	p.R244I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	244					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.R244I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TGTATGAATTCTCTCGTGTTT	0.517																																					p.R244I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G731T	22						.						66.0	64.0	64.0					22																	24086597		2203	4300	6503	22416597	SO:0001583	missense	7621	exon2			X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.731G>T	22.37:g.24086597C>A	ENSP00000339314:p.Arg244Ile		22416597	NM_021916		Missense_Mutation	SNP	ENST00000341976.3	37	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815916	0.50527	.	.	ENSG00000187792	ENST00000341976	T	0.24908	1.83	3.34	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	M	0.69463	2.115	0.32029	N	0.599817	D	0.76494	0.999	P	0.61397	0.888	T	0.48948	-0.8989	9	0.59425	D	0.04	-17.2837	6.7019	0.23230	0.0:0.8724:0.0:0.1276	.	244	Q9UC06	ZNF70_HUMAN	I	244	ENSP00000339314:R244I	ENSP00000339314:R244I	R	-	2	0	ZNF70	22416597	0.000000	0.05858	0.050000	0.19076	0.859000	0.49053	0.957000	0.29215	2.175000	0.68902	0.456000	0.33151	AGA		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916	
PIWIL3	440822	broad.mit.edu	37	22	25124201	25124201	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:25124201C>A	ENST00000332271.5	-	15	2291	c.1875G>T	c.(1873-1875)aaG>aaT	p.K625N	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.K507N|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K507N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	625	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.K625N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTGGGCAATCTTGGTGACGA	0.433																																					p.K625N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1875T	22						.						246.0	221.0	230.0					22																	25124201		2203	4300	6503	23454201	SO:0001583	missense	440822	exon15			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1875G>T	22.37:g.25124201C>A	ENSP00000330031:p.Lys625Asn		23454201	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569694	0.28003	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.19105	2.17;2.17;2.17	2.54	1.49	0.22878	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	U	0.000000	T	0.29158	0.0725	L	0.46670	1.46	0.48696	D	0.99969	D;P;D	0.89917	1.0;0.754;1.0	D;P;D	0.97110	1.0;0.804;0.998	T	0.16012	-1.0417	10	0.20046	T	0.44	.	4.7608	0.13108	0.0:0.686:0.0:0.314	.	507;616;625	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	625;507;507	ENSP00000330031:K625N;ENSP00000431843:K507N;ENSP00000435718:K507N	ENSP00000330031:K625N	K	-	3	2	PIWIL3	23454201	0.996000	0.38824	0.625000	0.29200	0.023000	0.10783	0.249000	0.18216	0.418000	0.25898	0.491000	0.48974	AAG		0.433	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
ADRBK2	157	broad.mit.edu	37	22	26059644	26059644	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:26059644G>T	ENST00000324198.6	+	5	606	c.414G>T	c.(412-414)aaG>aaT	p.K138N		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	138	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.K138N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATTTATCCAAGAAACAAGTGA	0.289																																					p.K138N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G414T	22						.						51.0	55.0	54.0					22																	26059644		2203	4297	6500	24389644	SO:0001583	missense	157	exon5			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.414G>T	22.37:g.26059644G>T	ENSP00000317578:p.Lys138Asn		24389644	NM_005160	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830657	0.50845	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.01998	4.51	5.64	4.63	0.57726	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.052145	0.85682	D	0.000000	T	0.05868	0.0153	M	0.70595	2.14	0.80722	D	1	B;B	0.32051	0.354;0.046	B;B	0.41088	0.347;0.126	T	0.08764	-1.0706	10	0.66056	D	0.02	-21.7042	10.3914	0.44171	0.0898:0.0:0.9102:0.0	.	138;138	A8K869;P35626	.;ARBK2_HUMAN	N	138	ENSP00000317578:K138N	ENSP00000317578:K138N	K	+	3	2	ADRBK2	24389644	1.000000	0.71417	0.977000	0.42913	0.924000	0.55760	3.884000	0.56175	1.392000	0.46585	0.563000	0.77884	AAG		0.289	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
MTMR3	8897	broad.mit.edu	37	22	30421762	30421762	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:30421762A>G	ENST00000401950.2	+	20	3911	c.3569A>G	c.(3568-3570)gAt>gGt	p.D1190G	MTMR3_ENST00000333027.3_Missense_Mutation_p.D1162G|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.D1054G|MTMR3_ENST00000351488.3_Missense_Mutation_p.D1153G|MTMR3_ENST00000406629.1_Missense_Mutation_p.D1162G|CTA-85E5.10_ENST00000429350.1_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1190					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.D1190G(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTTGAACTGGATAAGCCCATT	0.552																																					p.D1162G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3485G	22						.						98.0	86.0	90.0					22																	30421762		2203	4300	6503	28751762	SO:0001583	missense	8897	exon20			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.3569A>G	22.37:g.30421762A>G	ENSP00000384651:p.Asp1190Gly		28751762	NM_153050	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306864	0.81247	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.93	4.93	0.64822	Zinc finger, FYVE/PHD-type (1);	0.242332	0.39687	N	0.001300	T	0.48642	0.1511	L	0.44542	1.39	0.80722	D	1	D;P;P	0.56287	0.975;0.915;0.949	P;B;P	0.53861	0.736;0.366;0.57	T	0.50717	-0.8795	10	0.62326	D	0.03	.	13.9295	0.63986	1.0:0.0:0.0:0.0	.	1153;1190;1162	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	G	1190;1162;1054;1153;1162	ENSP00000384651:D1190G;ENSP00000331649:D1162G;ENSP00000318070:D1054G;ENSP00000307271:D1153G;ENSP00000384077:D1162G	ENSP00000318070:D1054G	D	+	2	0	MTMR3	28751762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.695000	0.91298	2.092000	0.63282	0.533000	0.62120	GAT		0.552	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090	
SLC35E4	339665	broad.mit.edu	37	22	31042901	31042901	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:31042901C>T	ENST00000343605.4	+	2	1735	c.936C>T	c.(934-936)taC>taT	p.Y312Y	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	312	Leu-rich.					integral component of membrane (GO:0016021)		p.Y312Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCCTCAGCTACGTGGGCATCG	0.642																																					p.Y312Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C936T	22						.						97.0	78.0	84.0					22																	31042901		2203	4300	6503	29372901	SO:0001819	synonymous_variant	339665	exon2				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.936C>T	22.37:g.31042901C>T			29372901	NM_001001479	Q567P0	Silent	SNP	ENST00000343605.4	37	CCDS13882.1																																																																																				0.642	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973	
MORC2	22880	broad.mit.edu	37	22	31328993	31328993	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:31328993C>T	ENST00000397641.3	-	22	2813	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R740H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	802						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R740H(2)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCTGTTCACACGCACCTCCAC	0.572																																					p.R740H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2219A	22						.						248.0	222.0	231.0					22																	31328993		2203	4300	6503	29658993	SO:0001583	missense	22880	exon23			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2405G>A	22.37:g.31328993C>T	ENSP00000380763:p.Arg802His		29658993	NM_014941	B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37		.	.	.	.	.	.	.	.	.	.	C	21.0	4.079949	0.76528	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14516	2.51;2.5	5.94	5.94	0.96194	.	0.050797	0.85682	D	0.000000	T	0.37598	0.1009	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.01363	-1.1374	10	0.62326	D	0.03	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	802	Q9Y6X9	MORC2_HUMAN	H	802;740	ENSP00000380763:R802H;ENSP00000215862:R740H	ENSP00000215862:R740H	R	-	2	0	MORC2	29658993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.988000	0.56951	2.820000	0.97059	0.650000	0.86243	CGT		0.572	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941	
SFI1	9814	broad.mit.edu	37	22	31927078	31927078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:31927078C>T	ENST00000400288.2	+	4	406	c.301C>T	c.(301-303)Cga>Tga	p.R101*	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000432498.1_Nonsense_Mutation_p.R101*|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000443326.1_Intron	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	101					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R101*(2)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TTTATGGATTCGAATGACTTT	0.323																																					p.R101X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C301T	22						.						120.0	112.0	115.0					22																	31927078		1830	4079	5909	30257078	SO:0001587	stop_gained	9814	exon4			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.301C>T	22.37:g.31927078C>T	ENSP00000383145:p.Arg101*		30257078	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.976926	0.53720	.	.	ENSG00000198089	ENST00000432498;ENST00000400288;ENST00000450787	.	.	.	4.26	3.15	0.36227	.	0.274240	0.27151	N	0.020686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.831	0.35085	0.2239:0.7761:0.0:0.0	.	.	.	.	X	101;101;52	.	ENSP00000383145:R101X	R	+	1	2	SFI1	30257078	0.920000	0.31207	1.000000	0.80357	0.976000	0.68499	1.841000	0.39240	2.377000	0.81083	0.442000	0.29010	CGA		0.323	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
DEPDC5	9681	broad.mit.edu	37	22	32302008	32302008	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:32302008T>G	ENST00000382112.3	+	41	4518	c.4448T>G	c.(4447-4449)tTt>tGt	p.F1483C	DEPDC5_ENST00000400248.2_Missense_Mutation_p.F1461C|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000266091.3_Missense_Mutation_p.F1470C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.F1461C|DEPDC5_ENST00000539165.1_Missense_Mutation_p.F309C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1472V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.F1392C|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1472V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1492					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F1461C(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCTCTGCTTTTAACTTCCCT	0.498																																					p.F1461C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4382G	22						.						88.0	84.0	86.0					22																	32302008		1947	4136	6083	30632008	SO:0001583	missense	9681	exon41			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4448T>G	22.37:g.32302008T>G	ENSP00000371546:p.Phe1483Cys		30632008	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	20.3|20.3|20.3	3.974186|3.974186|3.974186	0.74246|0.74246|0.74246	.|.|.	.|.|.	ENSG00000100150|ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165|ENST00000433147|ENST00000400246;ENST00000382111	T;T;T;T;T|.|T;T	0.36157|.|0.22945	1.27;1.69;1.7;1.69;1.7|.|1.93;1.93	5.12|5.12|5.12	5.12|5.12|5.12	0.69794|0.69794|0.69794	.|.|.	0.000000|0.000000|.	0.64402|0.64402|.	D|D|.	0.000001|0.000001|.	T|T|T	0.33089|0.33089|0.33089	0.0851|0.0851|0.0851	L|L|L	0.43152|0.43152|0.43152	1.355|1.355|1.355	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	0.999;0.999;1.0;0.999;0.999;0.999|.|.	D;D;D;D;D;D|.|.	0.85130|.|.	0.993;0.987;0.997;0.995;0.993;0.99|.|.	T|T|T	0.02736|0.02736|0.02736	-1.1117|-1.1117|-1.1117	10|6|7	0.54805|.|0.30078	T|.|T	0.06|.|0.28	.|.|.	14.412|14.412|14.412	0.67119|0.67119|0.67119	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	1492;1392;878;1470;1483;1461|.|.	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.|.	.;.;.;.;.;DEPD5_HUMAN|.|.	C|L|V	1392;1470;1461;1392;1483;1461;309|867|1472	ENSP00000440210:F1392C;ENSP00000266091:F1470C;ENSP00000383108:F1461C;ENSP00000371546:F1483C;ENSP00000383107:F1461C|.|ENSP00000383105:L1472V;ENSP00000371545:L1472V	ENSP00000266091:F1470C|.|ENSP00000371545:L1472V	F|F|L	+|+|+	2|3|1	0|2|2	DEPDC5|DEPDC5|DEPDC5	30632008|30632008|30632008	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	7.259000|7.259000|7.259000	0.78381|0.78381|0.78381	2.077000|2.077000|2.077000	0.62373|0.62373|0.62373	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	TTT|TTT|TTA		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
YWHAH	7533	broad.mit.edu	37	22	32352269	32352269	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:32352269G>T	ENST00000248975.5	+	2	504	c.231G>T	c.(229-231)aaG>aaT	p.K77N	snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	77					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)	p.K77N(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GAAACGAAAAGAAATTGGAGA	0.468																																					p.K77N	Ovarian(98;460 2060 9263 44007)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G231T	22						.						81.0	74.0	77.0					22																	32352269		2203	4300	6503	30682269	SO:0001583	missense	7533	exon2			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.231G>T	22.37:g.32352269G>T	ENSP00000248975:p.Lys77Asn		30682269	NM_003405		Missense_Mutation	SNP	ENST00000248975.5	37	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973667	0.53720	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	T;T	0.39997	1.05;1.05	5.95	4.93	0.64822	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	L	0.42632	1.34	0.80722	D	1	B;D	0.89917	0.114;1.0	B;D	0.91635	0.136;0.999	T	0.53287	-0.8460	10	0.51188	T	0.08	-6.9559	14.6808	0.69015	0.0704:0.0:0.9296:0.0	.	77;77	B2R6N6;Q04917	.;1433F_HUMAN	N	77;64	ENSP00000248975:K77N;ENSP00000406747:K64N	ENSP00000248975:K77N	K	+	3	2	YWHAH	30682269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.018000	0.57174	2.824000	0.97209	0.655000	0.94253	AAG		0.468	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405	
LARGE	9215	broad.mit.edu	37	22	34157362	34157362	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:34157362G>A	ENST00000354992.2	-	3	673	c.102C>T	c.(100-102)ttC>ttT	p.F34F	LARGE_ENST00000437602.2_Silent_p.F34F|LARGE_ENST00000337431.2_Silent_p.F34F|LARGE_ENST00000402320.1_Silent_p.F34F|LARGE_ENST00000397394.2_Silent_p.F34F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	34					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.F34F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCTTACCTTCGAAGCTCCCAG	0.483																																					p.F34F	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	22						.						139.0	138.0	138.0					22																	34157362		2203	4300	6503	32487362	SO:0001819	synonymous_variant	9215	exon2			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.102C>T	22.37:g.34157362G>A			32487362	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	CCDS13912.1																																																																																				0.483	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
LARGE	9215	broad.mit.edu	37	22	34157441	34157441	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:34157441C>T	ENST00000354992.2	-	3	594	c.23G>A	c.(22-24)aGa>aAa	p.R8K	LARGE_ENST00000437602.2_Missense_Mutation_p.R8K|LARGE_ENST00000337431.2_Missense_Mutation_p.R8K|LARGE_ENST00000402320.1_Missense_Mutation_p.R8K|LARGE_ENST00000397394.2_Missense_Mutation_p.R8K	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	8					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R8K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GAATTTCCGTCTCCCCCTGCA	0.527																																					p.R8K	Colon(70;397 1175 4573 19089 45288)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23A	22						.						126.0	116.0	119.0					22																	34157441		2203	4300	6503	32487441	SO:0001583	missense	9215	exon2			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.23G>A	22.37:g.34157441C>T	ENSP00000347088:p.Arg8Lys		32487441	NM_133642	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080163	0.36662	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.52526	1.16;1.13;1.16;1.13;0.66;1.39;1.37;1.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.20042	-1.0287	10	0.07990	T	0.79	.	19.1142	0.93331	0.0:1.0:0.0:0.0	.	8;8;8	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	K	8	ENSP00000347088:R8K;ENSP00000336636:R8K;ENSP00000380549:R8K;ENSP00000385223:R8K;ENSP00000388544:R8K;ENSP00000396277:R8K;ENSP00000415546:R8K;ENSP00000389605:R8K	ENSP00000336636:R8K	R	-	2	0	LARGE	32487441	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.819000	0.75262	2.749000	0.94314	0.655000	0.94253	AGA		0.527	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642	
MYH9	4627	broad.mit.edu	37	22	36690158	36690158	+	Missense_Mutation	SNP	C	C	T	rs147031322		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:36690158C>T	ENST00000216181.5	-	28	4047	c.3817G>A	c.(3817-3819)Gac>Aac	p.D1273N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1273					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.D1273N(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGACCTTGTCGGCCAGCTCT	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.D1273N			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3817A	22						.	C	ASN/ASP	0,4406		0,0,2203	68.0	65.0	66.0		3817	5.0	1.0	22	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYH9	NM_002473.4	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1273/1961	36690158	2,13004	2203	4300	6503	35020104	SO:0001583	missense	4627	exon28	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3817G>A	22.37:g.36690158C>T	ENSP00000216181:p.Asp1273Asn		35020104	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608292	0.87258	0.0	2.33E-4	ENSG00000100345	ENST00000216181	D	0.82893	-1.66	4.98	4.98	0.66077	Myosin tail (1);	0.107359	0.64402	D	0.000006	T	0.77096	0.4080	N	0.20986	0.625	0.80722	D	1	B	0.28178	0.202	B	0.35353	0.201	T	0.72497	-0.4275	10	0.25751	T	0.34	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	1273	P35579	MYH9_HUMAN	N	1273	ENSP00000216181:D1273N	ENSP00000216181:D1273N	D	-	1	0	MYH9	35020104	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.954000	0.70298	2.454000	0.82982	0.561000	0.74099	GAC		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
NCF4	4689	broad.mit.edu	37	22	37273855	37273855	+	Missense_Mutation	SNP	C	C	T	rs147550660		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:37273855C>T	ENST00000248899.6	+	10	1194	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	337					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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.T337M(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GTCTACAACACGATGCCATGA	0.597																																					p.T337M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1010T	22						.	C	MET/THR,	1,4405	2.1+/-5.4	0,1,2202	40.0	34.0	36.0		1010,	5.3	0.9	22	dbSNP_134	36	0,8600		0,0,4300	no	missense,utr-3	NCF4	NM_000631.4,NM_013416.3	81,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	337/340,	37273855	1,13005	2203	4300	6503	35603801	SO:0001583	missense	4689	exon10			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.1010C>T	22.37:g.37273855C>T	ENSP00000248899:p.Thr337Met		35603801	NM_000631	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139361	0.56936	2.27E-4	0.0	ENSG00000100365	ENST00000248899	T	0.48201	0.82	5.31	5.31	0.75309	.	.	.	.	.	T	0.65471	0.2694	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.68569	-0.5374	9	0.87932	D	0	.	11.6037	0.51020	0.0:0.9182:0.0:0.0818	.	337	Q15080	NCF4_HUMAN	M	337	ENSP00000248899:T337M	ENSP00000248899:T337M	T	+	2	0	NCF4	35603801	0.991000	0.36638	0.946000	0.38457	0.478000	0.33099	3.005000	0.49521	2.487000	0.83934	0.557000	0.71058	ACG		0.597	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631	
DMC1	11144	broad.mit.edu	37	22	38935386	38935386	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:38935386G>A	ENST00000216024.2	-	9	802	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	176					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.R176C(1)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ACATTAAAGCGATCAGCAATG	0.423								Homologous recombination																													p.R176C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C526T	22						.						173.0	144.0	154.0					22																	38935386		2203	4300	6503	37265332	SO:0001583	missense	11144	exon9			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.526C>T	22.37:g.38935386G>A	ENSP00000216024:p.Arg176Cys		37265332	NM_007068	A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184189	0.78677	.	.	ENSG00000100206	ENST00000216024	T	0.52983	0.64	5.51	5.51	0.81932	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.111469	0.56097	D	0.000035	T	0.78742	0.4331	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.84770	0.0767	10	0.87932	D	0	-4.2799	19.4131	0.94683	0.0:0.0:1.0:0.0	.	176	Q14565	DMC1_HUMAN	C	176	ENSP00000216024:R176C	ENSP00000216024:R176C	R	-	1	0	DMC1	37265332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.541000	0.60670	2.588000	0.87417	0.591000	0.81541	CGC		0.423	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068	
DESI1	27351	broad.mit.edu	37	22	42000089	42000089	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:42000089G>T	ENST00000263256.6	-	4	505	c.249C>A	c.(247-249)atC>atA	p.I83I	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	83	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)	p.I83I(1)									ACTCCAGAAAGATTTCTTCTG	0.522																																					p.I83I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249A	22						.						99.0	100.0	99.0					22																	42000089		2203	4300	6503	40330035	SO:0001819	synonymous_variant	27351	exon4			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"""family with sequence similarity 152, member B"", ""PPPDE peptidase domain containing 2"""	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.249C>A	22.37:g.42000089G>T			40330035	NM_015704		Silent	SNP	ENST00000263256.6	37	CCDS33652.1																																																																																				0.522	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000104124.3	NM_015704	
SEPT3	55964	broad.mit.edu	37	22	42390746	42390746	+	Intron	SNP	G	G	A	rs200288550	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:42390746G>A	ENST00000396426.3	+	10	1266				SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000396425.3_Missense_Mutation_p.D347N|SEPT3_ENST00000328414.8_Intron|SEPT3_ENST00000291236.11_Missense_Mutation_p.D283N	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.D347N(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GGAAAGCCACGACAGTAACCC	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		18952	0.002		0.0	False		,,,				2504	0.0				p.D347N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1039A	22						.						162.0	120.0	134.0					22																	42390746		2203	4300	6503	40720692	SO:0001627	intron_variant	55964	exon10			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.1011+28G>A	22.37:g.42390746G>A			40720692	NM_019106	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	CCDS14026.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.92	1.782923	0.31502	.	.	ENSG00000100167	ENST00000396425;ENST00000291236	T;T	0.53857	0.6;0.61	5.1	0.894	0.19242	.	.	.	.	.	T	0.31358	0.0794	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05903	-1.0857	8	.	.	.	.	7.9037	0.29750	0.1713:0.1239:0.7048:0.0	.	283;347	B7Z686;Q9UH03-2	.;.	N	347;283	ENSP00000379703:D347N;ENSP00000291236:D283N	.	D	+	1	0	SEPT3	40720692	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.594000	0.54008	0.163000	0.19507	-0.404000	0.06349	GAC		0.522	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734	
TCF20	6942	broad.mit.edu	37	22	42610400	42610400	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:42610400C>A	ENST00000359486.3	-	1	1048	c.912G>T	c.(910-912)aaG>aaT	p.K304N	TCF20_ENST00000335626.4_Missense_Mutation_p.K304N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.K304N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTGTGGAATCTTTGCCTGTT	0.473																																					p.K304N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G912T	22						.						113.0	105.0	107.0					22																	42610400		2203	4300	6503	40940344	SO:0001583	missense	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.912G>T	22.37:g.42610400C>A	ENSP00000352463:p.Lys304Asn		40940344	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185685	0.57909	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.38401	1.14;1.14	5.33	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.43366	0.1244	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.40365	-0.9567	10	0.59425	D	0.04	-24.9728	10.4996	0.44798	0.0:0.8524:0.0:0.1476	.	304;304	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	304	ENSP00000352463:K304N;ENSP00000335561:K304N	ENSP00000335561:K304N	K	-	3	2	TCF20	40940344	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.800000	0.38833	1.484000	0.48361	-0.137000	0.14449	AAG		0.473	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
POLDIP3	84271	broad.mit.edu	37	22	42998970	42998970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:42998970G>A	ENST00000252115.5	-	2	360	c.256C>T	c.(256-258)Cga>Tga	p.R86*	POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Nonsense_Mutation_p.R86*|POLDIP3_ENST00000339677.6_Nonsense_Mutation_p.R86*	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	86					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R86*(2)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CCTTTGATTCGAAATCGGGCA	0.567																																					p.R86X	Ovarian(52;967 1128 5875 19997 42537)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C256T	22						.						101.0	99.0	100.0					22																	42998970		2203	4300	6503	41328914	SO:0001587	stop_gained	84271	exon2				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.256C>T	22.37:g.42998970G>A	ENSP00000252115:p.Arg86*		41328914	NM_178136	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Nonsense_Mutation	SNP	ENST00000252115.5	37	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175667	0.94807	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	5.01	0.66863	.	0.107634	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5184	14.6756	0.68978	0.0:0.0:0.7885:0.2115	.	.	.	.	X	86	.	ENSP00000252115:R86X	R	-	1	2	POLDIP3	41328914	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.679000	0.46909	2.894000	0.99253	0.591000	0.81541	CGA		0.567	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311	
TTLL1	25809	broad.mit.edu	37	22	43442535	43442535	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:43442535T>G	ENST00000266254.7	-	10	1263	c.1023A>C	c.(1021-1023)cgA>cgC	p.R341R	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.R312R	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	341	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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.R341R(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)		ACTTGAGGATTCGGTCATTGG	0.507																																					p.R341R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1023C	22						.						348.0	300.0	316.0					22																	43442535		2203	4300	6503	41772479	SO:0001819	synonymous_variant	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.1023A>C	22.37:g.43442535T>G			41772479	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	T	6.170	0.399507	0.11696	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.55	-10.9	0.00192	.	.	.	.	.	T	0.47764	0.1463	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60860	-0.7179	4	.	.	.	.	10.5642	0.45163	0.072:0.1905:0.6194:0.1181	.	.	.	.	A	267	.	.	E	-	2	0	TTLL1	41772479	0.001000	0.12720	0.016000	0.15963	0.439000	0.31926	-2.100000	0.01345	-2.092000	0.00857	-0.455000	0.05494	GAA		0.507	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	
TTLL1	25809	broad.mit.edu	37	22	43471560	43471560	+	Silent	SNP	G	G	A	rs148475049		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:43471560G>A	ENST00000266254.7	-	3	273	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_ENST00000445824.1_Silent_p.I11I|TTLL1_ENST00000331018.7_Silent_p.I11I	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	11	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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.I11I(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)		CTGACTTCTCGATATCAGTGA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0				p.I11I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	22						.	G		11,4393	17.9+/-39.9	0,11,2191	201.0	188.0	192.0		33	-0.2	1.0	22	dbSNP_134	192	0,8600		0,0,4300	no	coding-synonymous	TTLL1	NM_012263.4		0,11,6491	AA,AG,GG		0.0,0.2498,0.0846		11/424	43471560	11,12993	2202	4300	6502	41801504	SO:0001819	synonymous_variant	25809	exon3			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.33C>T	22.37:g.43471560G>A			41801504	NM_012263	B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	CCDS14043.1																																																																																				0.413	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263	
SMC1B	27127	broad.mit.edu	37	22	45795093	45795093	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:45795093T>C	ENST00000357450.4	-	6	994	c.995A>G	c.(994-996)gAt>gGt	p.D332G	SMC1B_ENST00000404354.3_Missense_Mutation_p.D332G	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	332					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.D332G(2)		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)		GGCTTTTATATCATCTTCCTG	0.358																																					p.D332G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A995G	22						.						201.0	179.0	186.0					22																	45795093		1839	4094	5933	44173757	SO:0001583	missense	27127	exon6			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.995A>G	22.37:g.45795093T>C	ENSP00000350036:p.Asp332Gly		44173757	NM_148674	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.005549	0.54254	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79845	-1.31;-1.16	5.7	4.67	0.58626	RecF/RecN/SMC (1);	0.278906	0.30809	N	0.008840	T	0.73063	0.3539	L	0.40543	1.245	0.46981	D	0.999279	B;B;B	0.18013	0.008;0.007;0.025	B;B;B	0.26416	0.033;0.019;0.069	T	0.65957	-0.6042	10	0.32370	T	0.25	.	10.83	0.46654	0.0:0.0748:0.0:0.9252	.	332;332;332	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	G	332	ENSP00000350036:D332G;ENSP00000385902:D332G	ENSP00000350036:D332G	D	-	2	0	SMC1B	44173757	1.000000	0.71417	0.907000	0.35723	0.991000	0.79684	4.556000	0.60775	1.006000	0.39211	0.533000	0.62120	GAT		0.358	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
TBC1D22A	25771	broad.mit.edu	37	22	47287218	47287218	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:47287218A>C	ENST00000337137.4	+	6	931	c.765A>C	c.(763-765)aaA>aaC	p.K255N	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K208N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K208N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K177N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K196N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	255	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.K255N(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAAACAAAAAGAATATTTTG	0.398																																					p.K255N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A765C	22						.						87.0	90.0	89.0					22																	47287218		2203	4300	6503	45665882	SO:0001583	missense	25771	exon6			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.765A>C	22.37:g.47287218A>C	ENSP00000336724:p.Lys255Asn		45665882	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305525	0.40795	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.68	-1.96	0.07525	Rab-GAP/TBC domain (4);	0.167671	0.52532	D	0.000068	T	0.07638	0.0192	N	0.20685	0.6	0.44098	D	0.996868	B;B;B;B	0.21225	0.052;0.042;0.053;0.052	B;B;B;B	0.18871	0.022;0.023;0.022;0.022	T	0.23726	-1.0180	10	0.38643	T	0.18	.	10.3282	0.43807	0.4788:0.0:0.5212:0.0	.	255;177;196;255	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	N	255;208;196;177;208	ENSP00000336724:K255N;ENSP00000370383:K208N;ENSP00000384036:K196N;ENSP00000347932:K177N;ENSP00000385634:K208N	ENSP00000336724:K255N	K	+	3	2	TBC1D22A	45665882	0.980000	0.34600	0.496000	0.27539	0.987000	0.75469	0.208000	0.17415	-0.680000	0.05211	0.455000	0.32223	AAA		0.398	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
BRD1	23774	broad.mit.edu	37	22	50217866	50217866	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:50217866C>T	ENST00000216267.8	-	1	586	c.100G>A	c.(100-102)Gct>Act	p.A34T	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.A34T|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.A34T|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.A34T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	34					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.A34T(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGAGCTTGAGCGTAGGTCAGC	0.498																																					p.A34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	22						.						140.0	130.0	134.0					22																	50217866		2203	4300	6503	48603870	SO:0001583	missense	23774	exon1			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.100G>A	22.37:g.50217866C>T	ENSP00000216267:p.Ala34Thr		48603870	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035101	0.75617	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.23147	2.22;2.22;2.19;1.92	5.12	5.12	0.69794	.	0.105878	0.64402	D	0.000004	T	0.56366	0.1980	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.60890	-0.7173	9	.	.	.	.	18.5465	0.91048	0.0:1.0:0.0:0.0	.	34;34;34	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	T	34	ENSP00000216267:A34T;ENSP00000384076:A34T;ENSP00000385858:A34T;ENSP00000410042:A34T	.	A	-	1	0	BRD1	48603870	1.000000	0.71417	0.974000	0.42286	0.421000	0.31385	7.322000	0.79097	2.385000	0.81259	0.448000	0.29417	GCT		0.498	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
MOV10L1	54456	broad.mit.edu	37	22	50552974	50552974	+	Missense_Mutation	SNP	C	C	T	rs78907950		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:50552974C>T	ENST00000262794.5	+	7	1132	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	MOV10L1_ENST00000395858.3_Missense_Mutation_p.S350L|MOV10L1_ENST00000540615.1_Missense_Mutation_p.S330L|MOV10L1_ENST00000545383.1_Missense_Mutation_p.S350L|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	350					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.S350L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AATATTAATTCATTAAATAGC	0.413																																					p.S350L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1049T	22						.						53.0	57.0	56.0					22																	50552974		2203	4300	6503	48895101	SO:0001583	missense	54456	exon7			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1049C>T	22.37:g.50552974C>T	ENSP00000262794:p.Ser350Leu		48895101	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513491	0.12944	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.87029	-2.01;-2.01;-1.6;-2.2	5.76	-0.82	0.10826	.	0.946920	0.08921	N	0.874448	D	0.84061	0.5389	M	0.73598	2.24	0.19775	N	0.999957	B;B;B;B	0.21753	0.06;0.002;0.0;0.0	B;B;B;B	0.20577	0.03;0.006;0.003;0.003	T	0.72239	-0.4351	10	0.62326	D	0.03	-4.0133	4.8339	0.13454	0.1813:0.5322:0.0:0.2865	.	111;330;350;350	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	L	350;350;350;330	ENSP00000438978:S350L;ENSP00000262794:S350L;ENSP00000379199:S350L;ENSP00000438542:S330L	ENSP00000262794:S350L	S	+	2	0	MOV10L1	48895101	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-0.127000	0.10547	-0.273000	0.09246	-0.222000	0.12452	TCA		0.413	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50563961	50563961	+	Silent	SNP	C	C	T	rs140640371		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:50563961C>T	ENST00000262794.5	+	11	1793	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	MOV10L1_ENST00000395858.3_Silent_p.V570V|MOV10L1_ENST00000540615.1_Silent_p.V550V|MOV10L1_ENST00000545383.1_Silent_p.V570V|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	570					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.V570V(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCTGGAGGTCCCAGGGTTGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		16988	0.001		0.0	False		,,,				2504	0.0				p.V570V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1710T	22						.						132.0	132.0	132.0					22																	50563961		2203	4300	6503	48906088	SO:0001819	synonymous_variant	54456	exon11			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1710C>T	22.37:g.50563961C>T			48906088	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	CCDS14084.1																																																																																				0.488	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
MOV10L1	54456	broad.mit.edu	37	22	50572973	50572973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:50572973G>T	ENST00000262794.5	+	15	2067	c.1984G>T	c.(1984-1986)Gaa>Taa	p.E662*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.E662*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.E642*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.E662*|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	662					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.E662*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTTCCAGAAGAAATTATTTT	0.373																																					p.E662X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1984T	22						.						128.0	127.0	127.0					22																	50572973		2203	4300	6503	48915100	SO:0001587	stop_gained	54456	exon15			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1984G>T	22.37:g.50572973G>T	ENSP00000262794:p.Glu662*		48915100	NM_001164104	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	39	7.889989	0.98545	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	5.78	2.27	0.28462	.	0.583581	0.20472	N	0.091680	.	.	.	.	.	.	0.39714	D	0.971378	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-25.12	2.1238	0.03732	0.3689:0.0:0.393:0.2381	.	.	.	.	X	662;662;662;642	.	ENSP00000262794:E662X	E	+	1	0	MOV10L1	48915100	1.000000	0.71417	0.934000	0.37439	0.872000	0.50106	4.462000	0.60121	0.777000	0.33496	0.655000	0.94253	GAA		0.373	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
ACR	49	broad.mit.edu	37	22	51182536	51182536	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr22:51182536G>A	ENST00000216139.5	+	4	653	c.613G>A	c.(613-615)Gac>Aac	p.D205N	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.D205N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GGATCTCATCGACCTGGACTT	0.562																																					p.D205N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G613A	22						.						171.0	152.0	159.0					22																	51182536		2203	4300	6503	49529402	SO:0001583	missense	49	exon4			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.613G>A	22.37:g.51182536G>A	ENSP00000216139:p.Asp205Asn		49529402	NM_001097	Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	13.19	2.162115	0.38217	.	.	ENSG00000100312	ENST00000216139	T	0.60299	0.2	4.48	1.03	0.20045	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.460605	0.18488	N	0.139729	T	0.33059	0.0850	N	0.14661	0.345	0.24069	N	0.995982	B	0.28760	0.221	B	0.24701	0.055	T	0.13548	-1.0505	10	0.32370	T	0.25	-21.0446	6.549	0.22423	0.4528:0.0:0.5472:0.0	.	205	P10323	ACRO_HUMAN	N	205	ENSP00000216139:D205N	ENSP00000216139:D205N	D	+	1	0	ACR	49529402	0.004000	0.15560	0.953000	0.39169	0.968000	0.65278	0.632000	0.24583	0.458000	0.26988	0.450000	0.29827	GAC		0.562	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097	
RGL3	57139	broad.mit.edu	37	19	11508132	11508132	+	Nonsense_Mutation	SNP	G	G	A	rs201152952		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:11508132G>A	ENST00000380456.3	-	17	1951	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Nonsense_Mutation_p.R636*	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	630	Interaction with HRAS, MRAS and RIT1. {ECO:0000250}.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.R394*(1)|p.R630*(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AAGATGCTTCGATACAGGTTC	0.677																																					p.R636X	GBM(174;751 2067 17998 27979 33959)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1906T	19						.	G	stop/ARG,stop/ARG	0,4402		0,0,2201	39.0	40.0	40.0		1888,1906	4.5	1.0	19		40	2,8594		0,2,4296	yes	stop-gained,stop-gained	RGL3	NM_001035223.2,NM_001161616.1	,	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	,	630/711,636/717	11508132	2,12996	2201	4298	6499	11369132	SO:0001587	stop_gained	57139	exon17			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1888C>T	19.37:g.11508132G>A	ENSP00000369823:p.Arg630*		11369132	NM_001161616	B5ME84|B7ZL22|Q0P6G0	Nonsense_Mutation	SNP	ENST00000380456.3	37	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	G	39	7.673344	0.98425	0.0	2.33E-4	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	.	.	.	4.48	4.48	0.54585	.	0.062472	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	10.1235	0.42634	0.0:0.0:0.8002:0.1998	.	.	.	.	X	427;636;630	.	ENSP00000344665:R427X	R	-	1	2	RGL3	11369132	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.711000	0.68400	2.479000	0.83701	0.555000	0.69702	CGA		0.677	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867	
ZNF491	126069	broad.mit.edu	37	19	11917068	11917068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:11917068G>T	ENST00000323169.5	+	3	631	c.300G>T	c.(298-300)gaG>gaT	p.E100D	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	100					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.E100D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ACACTAGAGAGAAACCTTTTG	0.383																																					p.E100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G300T	19						.						55.0	56.0	55.0					19																	11917068		2202	4300	6502	11778068	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.300G>T	19.37:g.11917068G>T	ENSP00000313443:p.Glu100Asp		11778068	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	12.68	2.011904	0.35511	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.34859	1.34;1.71	0.914	-0.253	0.12996	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40932	0.1137	L	0.47190	1.495	0.27352	N	0.956218	P	0.51057	0.941	P	0.55577	0.779	T	0.30416	-0.9979	9	0.66056	D	0.02	.	6.4321	0.21803	0.193:0.0:0.807:0.0	.	100	Q8N8L2	ZN491_HUMAN	D	100	ENSP00000313443:E100D;ENSP00000392176:E100D	ENSP00000313443:E100D	E	+	3	2	ZNF491	11778068	0.965000	0.33210	0.051000	0.19133	0.018000	0.09664	0.838000	0.27572	-0.045000	0.13468	0.511000	0.50034	GAG		0.383	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF700	90592	broad.mit.edu	37	19	12059355	12059355	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12059355G>T	ENST00000254321.5	+	4	659	c.516G>T	c.(514-516)aaG>aaT	p.K172N	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000482090.1_Missense_Mutation_p.K154N|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	172					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.K172N(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTAAAAATAAGAAAGCCTTCA	0.398																																					p.K172N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G516T	19						.						111.0	109.0	110.0					19																	12059355		2203	4300	6503	11920355	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.516G>T	19.37:g.12059355G>T	ENSP00000254321:p.Lys172Asn		11920355	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	10.96	1.498070	0.26861	.	.	ENSG00000196757	ENST00000254321	T	0.07021	3.23	0.596	0.596	0.17496	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.21220	N	0.999751	D	0.71674	0.998	D	0.65987	0.94	T	0.33854	-0.9852	8	0.62326	D	0.03	.	.	.	.	.	172	Q9H0M5	ZN700_HUMAN	N	172	ENSP00000254321:K172N	ENSP00000254321:K172N	K	+	3	2	ZNF700	11920355	0.000000	0.05858	0.121000	0.21740	0.082000	0.17680	-0.501000	0.06398	0.570000	0.29347	0.305000	0.20034	AAG		0.398	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF878	729747	broad.mit.edu	37	19	12155891	12155891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12155891C>A	ENST00000547628.1	-	4	462	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Nonsense_Mutation_p.E156*|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						ATGCCGATTTCTCCACACACA	0.438																																					p.E156X												.	.	0			c.G466T	19						.						74.0	72.0	73.0					19																	12155891		2055	4224	6279	12016891	SO:0001587	stop_gained	729747	exon5				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.325G>T	19.37:g.12155891C>A	ENSP00000447931:p.Glu109*		12016891	NM_001080404		Nonsense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225337	0.39300	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	.	.	.	1.3	-2.6	0.06190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3446	0.04268	0.0:0.2559:0.2951:0.449	.	.	.	.	X	109;156	.	ENSP00000447931:E109X	E	-	1	0	AC022415.4;ZNF878	12016891	0.012000	0.17670	0.006000	0.13384	0.038000	0.13279	0.076000	0.14712	-1.054000	0.03214	0.313000	0.20887	GAA		0.438	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
ZNF625	90589	broad.mit.edu	37	19	12256528	12256528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12256528G>A	ENST00000355738.1	-	4	854	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ZNF625_ENST00000439556.2_Nonsense_Mutation_p.R235*|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Nonsense_Mutation_p.R169*|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	169					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.R169*(1)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATGTATTCGAAGGCTACCA	0.413																																					p.R169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C505T	19						.						133.0	121.0	125.0					19																	12256528		2203	4300	6503	12117528	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.505C>T	19.37:g.12256528G>A	ENSP00000347977:p.Arg169*		12117528	NM_145233	A4FU45|I3L0E9	Nonsense_Mutation	SNP	ENST00000355738.1	37		.	.	.	.	.	.	.	.	.	.	G	37	5.980486	0.97168	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	.	.	.	0.856	0.856	0.19019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	4.7449	0.13033	0.0:0.4054:0.5946:0.0	.	.	.	.	X	169;169;235	.	ENSP00000347977:R169X	R	-	1	2	AC022415.5	12117528	0.000000	0.05858	0.016000	0.15963	0.828000	0.46876	-0.321000	0.08018	0.765000	0.33221	0.313000	0.20887	CGA		0.413	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
ZNF563	147837	broad.mit.edu	37	19	12433451	12433451	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12433451C>A	ENST00000293725.5	-	2	283	c.78G>T	c.(76-78)aaG>aaT	p.K26N	ZNF563_ENST00000595977.1_Missense_Mutation_p.K26N	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	26	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.K26N(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGTATAAATTCTTCTGTGATG	0.428																																					p.K26N	GBM(39;623 795 5132 29510 31476)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G78T	19						.						135.0	122.0	126.0					19																	12433451		2203	4300	6503	12294451	SO:0001583	missense	147837	exon2			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.78G>T	19.37:g.12433451C>A	ENSP00000293725:p.Lys26Asn		12294451	NM_145276	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972745	0.34848	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.02944	4.1	1.27	0.0423	0.14217	Krueppel-associated box (4);	.	.	.	.	T	0.16300	0.0392	M	0.92219	3.285	0.22796	N	0.998726	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.03121	-1.1070	9	0.72032	D	0.01	.	6.2568	0.20877	0.2977:0.7023:0.0:0.0	.	26;26	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	N	26	ENSP00000293725:K26N	ENSP00000293725:K26N	K	-	3	2	ZNF563	12294451	0.016000	0.18221	0.665000	0.29768	0.054000	0.15201	-0.040000	0.12104	-0.124000	0.11724	-0.692000	0.03713	AAG		0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
MAN2B1	4125	broad.mit.edu	37	19	12758323	12758323	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12758323C>T	ENST00000456935.2	-	22	2794	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.A105T|MAN2B1_ENST00000221363.4_Silent_p.E917E	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	918					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.E918E(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAACTGGTGCTCCAAGCGCA	0.622																																					p.E918E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2754A	19						.						85.0	85.0	85.0					19																	12758323		2203	4300	6503	12619323	SO:0001819	synonymous_variant	4125	exon22				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2754G>A	19.37:g.12758323C>T			12619323	NM_000528	G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	CCDS32919.1																																																																																				0.622	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
PRDX2	7001	broad.mit.edu	37	19	12910788	12910788	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:12910788G>A	ENST00000301522.2	-	5	524	c.396C>T	c.(394-396)atC>atT	p.I132I	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	132	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)	p.I132I(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTGCCATCGATGATAAAGA	0.572																																					p.I132I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	19						.						69.0	62.0	64.0					19																	12910788		2203	4300	6503	12771788	SO:0001819	synonymous_variant	7001	exon5				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.396C>T	19.37:g.12910788G>A			12771788	NM_005809	A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.572	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809	
RPS15	6209	broad.mit.edu	37	19	1440147	1440147	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:1440147G>A	ENST00000586686.2	+	3	258	c.219G>A	c.(217-219)ccG>ccA	p.P73P	RPS15_ENST00000589656.2_Silent_p.P73P|RPS15_ENST00000586096.2_Silent_p.P73P|AC027307.3_ENST00000594262.1_5'Flank|RPS15_ENST00000591804.2_Silent_p.P40P|RPS15_ENST00000593052.1_Silent_p.P80P|RPS15_ENST00000585665.1_Silent_p.P40P|RPS15_ENST00000233609.4_Silent_p.P46P|RPS15_ENST00000591032.1_Silent_p.P40P			P62841	RS15_HUMAN	ribosomal protein S15	73					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P73P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGAAGCCGGAAGTGGTGA	0.657																																					p.P73P	Ovarian(170;79 2680 5719 44260)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219A	19						.						23.0	28.0	26.0					19																	1440147		2203	4299	6502	1391147	SO:0001819	synonymous_variant	6209	exon3				CCDS12067.1	19p13.3	2012-12-20			ENSG00000115268	ENSG00000115268		"""S ribosomal proteins"""	10388	protein-coding gene	gene with protein product	"""40S ribosomal protein S15"", ""homolog of rat insulinoma"", ""insulinoma protein"""	180535				2159154	Standard	NM_001018		Approved	RIG, MGC111130, S15	uc002lsp.1	P62841	OTTHUMG00000140099	ENST00000586686.2:c.219G>A	19.37:g.1440147G>A			1391147	NM_001018	A5D8V9|P11174|Q3KRA1|Q9UDC2	Silent	SNP	ENST00000586686.2	37	CCDS12067.1																																																																																				0.657	RPS15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449609.4	NM_001018	
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	G	A	rs377082780		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:13365981G>A	ENST00000360228.5	-	29	4682	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Silent_p.F1562F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1562					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGACACCACGAACTGCCACA	0.587																																					p.F1562F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C4686T	19						.	G	,,,,	0,4300		0,0,2150	84.0	94.0	91.0		4695,4686,4683,4686,4695	-0.2	1.0	19		91	1,8513		0,1,4256	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6406	AA,AG,GG		0.0117,0.0,0.0078	,,,,	1565/2267,1562/2262,1561/2507,1562/2264,1565/2513	13365981	1,12813	2150	4257	6407	13226981	SO:0001819	synonymous_variant	773	exon29			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4683C>T	19.37:g.13365981G>A			13226981	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
PRKACA	5566	broad.mit.edu	37	19	14203926	14203926	+	Nonstop_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:14203926A>G	ENST00000308677.4	-	10	1250	c.1054T>C	c.(1054-1056)Tag>Cag	p.*352Q	SAMD1_ENST00000533683.2_5'Flank|PRKACA_ENST00000589994.1_Nonstop_Mutation_p.*344Q|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	0					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|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)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|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)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)	p.*352Q(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GCATGCCCCTAAAACTCAGAA	0.493																																					p.X352Q												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T1054C	19						.						59.0	47.0	51.0					19																	14203926		2203	4300	6503	14064926	SO:0001578	stop_lost	5566	exon10				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.1054T>C	19.37:g.14203926A>G	ENSP00000309591:p.*352Gluext*26		14064926	NM_002730	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Read-through	SNP	ENST00000308677.4	37	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336448	0.41398	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3773	0.49735	1.0:0.0:0.0:0.0	.	.	.	.	Q	352;344;352	.	.	X	-	1	0	PRKACA	14064926	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.892000	0.92491	1.861000	0.53984	0.347000	0.21830	TAG		0.493	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730	
EMR3	84658	broad.mit.edu	37	19	14772866	14772866	+	Silent	SNP	G	G	A	rs150826128		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:14772866G>A	ENST00000253673.5	-	4	364	c.264C>T	c.(262-264)gtC>gtT	p.V88V	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Intron|EMR3_ENST00000443157.2_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	88	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V88V(4)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACTTCCTTCGACATTGTAAC	0.393																																					p.V88V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C264T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	197.0	165.0	176.0		264	-8.2	0.0	19	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	EMR3	NM_032571.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		88/653	14772866	1,13005	2203	4300	6503	14633866	SO:0001819	synonymous_variant	84658	exon4			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.264C>T	19.37:g.14772866G>A			14633866	NM_032571		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
OR7C2	26658	broad.mit.edu	37	19	15052891	15052891	+	Silent	SNP	C	C	T	rs145894974		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:15052891C>T	ENST00000248072.3	+	1	591	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I197I(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCAATAACATCGTGATGTATT	0.433													.|||	1	0.000199681	0.0	0.0	5008	,	,		23359	0.0		0.001	False		,,,				2504	0.0				p.I197I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	19						.						212.0	196.0	201.0					19																	15052891		2203	4300	6503	14913891	SO:0001819	synonymous_variant	26658	exon1			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.591C>T	19.37:g.15052891C>T			14913891	NM_012377	O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	CCDS12320.1																																																																																				0.433	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1		
NOTCH3	4854	broad.mit.edu	37	19	15276215	15276215	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:15276215C>T	ENST00000263388.2	-	31	5854	c.5779G>A	c.(5779-5781)Gcc>Acc	p.A1927T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1927					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.A1927T(2)		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)			GCATGGCTGGCGATGAGCTCT	0.577																																					p.A1927T												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.G5779A	19						.						91.0	77.0	82.0					19																	15276215		2203	4300	6503	15137215	SO:0001583	missense	4854	exon31			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.5779G>A	19.37:g.15276215C>T	ENSP00000263388:p.Ala1927Thr		15137215	NM_000435	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297690	0.40694	.	.	ENSG00000074181	ENST00000263388	T	0.64991	-0.13	5.14	5.14	0.70334	Ankyrin repeat-containing domain (4);	0.000000	0.32190	N	0.006458	T	0.49184	0.1542	L	0.35249	1.045	0.38489	D	0.947938	B	0.32396	0.369	B	0.32805	0.153	T	0.50709	-0.8796	10	0.30854	T	0.27	.	11.0253	0.47741	0.0:0.9143:0.0:0.0857	.	1927	Q9UM47	NOTC3_HUMAN	T	1927	ENSP00000263388:A1927T	ENSP00000263388:A1927T	A	-	1	0	NOTCH3	15137215	0.967000	0.33354	0.989000	0.46669	0.471000	0.32888	2.016000	0.40971	2.676000	0.91093	0.561000	0.74099	GCC		0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	
CYP4F22	126410	broad.mit.edu	37	19	15654824	15654824	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:15654824G>A	ENST00000269703.3	+	9	1181	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	CYP4F22_ENST00000601005.2_Missense_Mutation_p.E328K	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	328						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.E328K(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TATCCGAGCCGAAGCAGACAC	0.547																																					p.E328K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G982A	19						.						114.0	83.0	93.0					19																	15654824		2203	4300	6503	15515824	SO:0001583	missense	126410	exon9				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.982G>A	19.37:g.15654824G>A	ENSP00000269703:p.Glu328Lys		15515824	NM_173483	Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345161	0.82022	.	.	ENSG00000171954	ENST00000269703	T	0.70045	-0.45	5.49	5.49	0.81192	.	0.054221	0.64402	D	0.000001	D	0.88492	0.6451	H	0.97564	4.03	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92298	0.5847	10	0.87932	D	0	.	16.8674	0.86033	0.0:0.0:1.0:0.0	.	328	Q6NT55	CP4FN_HUMAN	K	328	ENSP00000269703:E328K	ENSP00000269703:E328K	E	+	1	0	CYP4F22	15515824	1.000000	0.71417	0.950000	0.38849	0.335000	0.28730	7.107000	0.77047	2.592000	0.87571	0.655000	0.94253	GAA		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
CYP4F12	66002	broad.mit.edu	37	19	15794313	15794313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:15794313G>T	ENST00000550308.1	+	7	1038	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	CYP4F12_ENST00000324632.10_Nonsense_Mutation_p.E220*	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	220					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.E220*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GAGGCCCAGTGAATATATTGC	0.532																																					p.E220X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G658T	19						.						69.0	68.0	68.0					19																	15794313		2201	4299	6500	15655313	SO:0001587	stop_gained	66002	exon7			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.658G>T	19.37:g.15794313G>T	ENSP00000448998:p.Glu220*		15655313	NM_023944	E7ET51|O60389|Q5JPJ7|Q9HCS1	Nonsense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	39	7.308537	0.98203	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	.	.	.	2.46	1.37	0.22104	.	0.652316	0.12737	U	0.443324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.0899	0.36603	0.0:0.2282:0.7717:0.0	.	.	.	.	X	220	.	ENSP00000321821:E220X	E	+	1	0	CYP4F12	15655313	0.943000	0.32029	0.925000	0.36789	0.342000	0.28953	0.548000	0.23314	0.570000	0.29347	0.484000	0.47621	GAA		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
CALR3	125972	broad.mit.edu	37	19	16601326	16601326	+	Silent	SNP	C	C	T	rs570064234		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:16601326C>T	ENST00000269881.3	-	3	311	c.249G>A	c.(247-249)ccG>ccA	p.P83P	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	83	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.P83P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						TATTGCTGAACGGTTTGAAGC	0.453																																					p.P83P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	19						.						169.0	160.0	163.0					19																	16601326		2203	4300	6503	16462326	SO:0001819	synonymous_variant	125972	exon3			AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.249G>A	19.37:g.16601326C>T			16462326	NM_145046	D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	CCDS12344.1																																																																																				0.453	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1	NM_145046	
TMEM38A	79041	broad.mit.edu	37	19	16791313	16791313	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:16791313G>T	ENST00000187762.2	+	3	478	c.387G>T	c.(385-387)aaG>aaT	p.K129N		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.K129K(1)|p.K129N(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GAGTCCGCAAGATCGCGGTGG	0.532																																					p.K129N												TMEM38A,central_nervous_system,brain,Substitution - coding silent,0	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|central_nervous_system(1)	c.G387T	19						.						175.0	161.0	166.0					19																	16791313		2203	4300	6503	16652313	SO:0001583	missense	79041	exon3			AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.387G>T	19.37:g.16791313G>T	ENSP00000187762:p.Lys129Asn		16652313	NM_024074	A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	g	19.61	3.859670	0.71834	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.84219	2.685	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.79818	-0.1643	9	0.59425	D	0.04	-23.8134	9.5009	0.39017	0.1631:0.0:0.8369:0.0	.	129	Q9H6F2	TM38A_HUMAN	N	129	.	ENSP00000187762:K129N	K	+	3	2	TMEM38A	16652313	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.432000	0.52824	2.459000	0.83118	0.561000	0.74099	AAG		0.532	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074	
FAM129C	199786	broad.mit.edu	37	19	17664141	17664141	+	Silent	SNP	G	G	A	rs575613569		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:17664141G>A	ENST00000335393.4	+	16	2001	c.1863G>A	c.(1861-1863)gtG>gtA	p.V621V	FAM129C_ENST00000601861.1_Silent_p.V590V|COLGALT1_ENST00000252599.4_5'Flank|FAM129C_ENST00000449408.2_Silent_p.V347V	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	621								p.V621V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TTAACTTGGTGTCAAGTTTCC	0.453													g|||	1	0.000199681	0.0	0.0	5008	,	,		17138	0.001		0.0	False		,,,				2504	0.0				p.V621V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1863A	19						.						129.0	139.0	136.0					19																	17664141		2203	4300	6503	17525141	SO:0001819	synonymous_variant	199786	exon16			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1863G>A	19.37:g.17664141G>A			17525141	NM_173544	B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	CCDS12362.1																																																																																				0.453	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
UNC13A	23025	broad.mit.edu	37	19	17756824	17756824	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:17756824G>T	ENST00000519716.2	-	18	2140	c.2141C>A	c.(2140-2142)aCc>aAc	p.T714N	UNC13A_ENST00000252773.7_Missense_Mutation_p.T714N|UNC13A_ENST00000551649.1_Missense_Mutation_p.T714N|UNC13A_ENST00000552293.1_Missense_Mutation_p.T714N|UNC13A_ENST00000550896.1_Missense_Mutation_p.T712N|UNC13A_ENST00000428389.2_Missense_Mutation_p.T802N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	714	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.T802N(1)|p.T714N(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCATAGATGGTTTTTGTCCG	0.592																																					p.T714N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2141A	19						.						83.0	79.0	80.0					19																	17756824		1959	4172	6131	17617824	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.2141C>A	19.37:g.17756824G>T	ENSP00000429562:p.Thr714Asn		17617824	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093769	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	3.85	3.85	0.44370	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.86301	0.5900	M	0.91406	3.205	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.89555	0.3802	10	0.87932	D	0	-27.8132	13.6311	0.62196	0.0:0.0:1.0:0.0	.	714	Q9UPW8	UN13A_HUMAN	N	714;802;714;714;714;712	ENSP00000429562:T714N;ENSP00000400409:T802N;ENSP00000252773:T714N;ENSP00000447236:T714N;ENSP00000447572:T714N;ENSP00000446831:T712N	ENSP00000252773:T714N	T	-	2	0	UNC13A	17617824	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	ACC		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
ZNF506	440515	broad.mit.edu	37	19	19905706	19905706	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:19905706T>C	ENST00000540806.2	-	4	1078	c.990A>G	c.(988-990)aaA>aaG	p.K330K	ZNF506_ENST00000450683.2_Silent_p.K298K|ZNF506_ENST00000443905.2_Silent_p.K330K|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	330					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.K330K(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TTCTCTTATGTTTAGTAAGGT	0.393																																					p.K298K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A894G	19						.						64.0	69.0	67.0					19																	19905706		2194	4289	6483	19766706	SO:0001819	synonymous_variant	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.990A>G	19.37:g.19905706T>C			19766706	NM_001145404	B3KTH6	Silent	SNP	ENST00000540806.2	37	CCDS42531.1																																																																																				0.393	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
ZNF506	440515	broad.mit.edu	37	19	19906181	19906181	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:19906181G>T	ENST00000540806.2	-	4	603	c.515C>A	c.(514-516)tCt>tAt	p.S172Y	ZNF506_ENST00000450683.2_Missense_Mutation_p.S140Y|ZNF506_ENST00000443905.2_Missense_Mutation_p.S172Y|ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	172					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.S172Y(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ACATTTAAAAGATTTTTTTCC	0.284																																					p.S140Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419A	19						.						41.0	39.0	40.0					19																	19906181		1876	4126	6002	19767181	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.515C>A	19.37:g.19906181G>T	ENSP00000440625:p.Ser172Tyr		19767181	NM_001145404	B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	g	3.450	-0.112302	0.06881	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.15372	2.43;2.43;2.43	1.16	-2.32	0.06745	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13927	0.0337	M	0.79343	2.45	0.09310	N	1	B;P	0.36599	0.084;0.56	B;B	0.23574	0.025;0.047	T	0.15321	-1.0441	9	0.52906	T	0.07	.	2.9574	0.05881	0.2131:0.0:0.525:0.2619	.	172;140	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	Y	172;172;140	ENSP00000393835:S172Y;ENSP00000440625:S172Y;ENSP00000408892:S140Y	ENSP00000393835:S172Y	S	-	2	0	ZNF506	19767181	0.042000	0.20092	0.000000	0.03702	0.001000	0.01503	1.717000	0.37991	-0.375000	0.07955	-0.751000	0.03497	TCT		0.284	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218	
ZNF626	199777	broad.mit.edu	37	19	20807937	20807937	+	Missense_Mutation	SNP	C	C	A	rs533816037	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:20807937C>A	ENST00000601440.1	-	4	892	c.746G>T	c.(745-747)aGa>aTa	p.R249I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	249					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.R249I(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGATTTCTCTTATGTGT	0.378																																					p.R249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746T	19						.						55.0	58.0	57.0					19																	20807937		2195	4295	6490	20599777	SO:0001583	missense	199777	exon4			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.746G>T	19.37:g.20807937C>A	ENSP00000469958:p.Arg249Ile		20599777	NM_001076675	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.390	-0.924191	0.02377	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.798	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38214	0.1032	M	0.64567	1.98	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.30822	-0.9965	8	0.27082	T	0.32	.	3.2332	0.06756	0.0:0.6487:0.0:0.3513	.	249	Q68DY1	ZN626_HUMAN	I	249;173;249	.	ENSP00000445201:R249I	R	-	2	0	ZNF626	20599777	0.000000	0.05858	0.508000	0.27688	0.506000	0.33950	-1.548000	0.02184	0.162000	0.19483	0.165000	0.16767	AGA		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF714	148206	broad.mit.edu	37	19	21300554	21300554	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:21300554C>A	ENST00000596143.1	+	5	1409	c.1084C>A	c.(1084-1086)Cat>Aat	p.H362N	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	362					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.H362N(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGATGATTCATACTGGAGA	0.358																																					p.H362N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1084A	19						.						41.0	44.0	43.0					19																	21300554		2169	4283	6452	21092394	SO:0001583	missense	148206	exon5			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1084C>A	19.37:g.21300554C>A	ENSP00000472368:p.His362Asn		21092394	NM_182515	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	11.21	1.572974	0.28092	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75162	0.3812	M	0.92649	3.33	0.29451	N	0.85844	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.998;0.998	T	0.67914	-0.5547	8	0.87932	D	0	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	363;362;363	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	N	362	.	ENSP00000291770:H362N	H	+	1	0	ZNF714	21092394	0.999000	0.42202	0.441000	0.26858	0.428000	0.31595	5.289000	0.65656	0.446000	0.26666	0.449000	0.29647	CAT		0.358	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF493	284443	broad.mit.edu	37	19	21607170	21607170	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:21607170A>G	ENST00000355504.4	+	2	1591	c.1325A>G	c.(1324-1326)cAc>cGc	p.H442R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H570R	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	442					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.H442R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATACTGGACACAAACCCTAC	0.358																																					p.H442R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1325G	19						.						41.0	40.0	41.0					19																	21607170		2202	4298	6500	21399010	SO:0001583	missense	284443	exon2			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1325A>G	19.37:g.21607170A>G	ENSP00000347691:p.His442Arg		21399010	NM_175910	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	9.798	1.179688	0.21787	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.17691	2.26;2.26	0.741	0.741	0.18336	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05502	0.0145	N	0.01417	-0.88	0.80722	D	1	B;B	0.22480	0.004;0.07	B;B	0.21151	0.003;0.033	T	0.21484	-1.0244	9	0.87932	D	0	.	7.0351	0.24989	1.0:0.0:0.0:0.0	.	442;570	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	570;442	ENSP00000376110:H570R;ENSP00000347691:H442R	ENSP00000347691:H442R	H	+	2	0	ZNF493	21399010	0.154000	0.22792	0.002000	0.10522	0.006000	0.05464	2.694000	0.47035	0.561000	0.29186	0.383000	0.25322	CAC		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF429	353088	broad.mit.edu	37	19	21712526	21712526	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:21712526G>A	ENST00000358491.4	+	2	278	c.70G>A	c.(70-72)Gca>Aca	p.A24T	ZNF429_ENST00000597078.1_Missense_Mutation_p.A24T|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A24T(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CCTGGACACAGCACAACAGAA	0.418																																					p.A24T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	19						.						106.0	118.0	114.0					19																	21712526		2203	4300	6503	21504366	SO:0001583	missense	353088	exon2			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.70G>A	19.37:g.21712526G>A	ENSP00000351280:p.Ala24Thr		21504366	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	8.310	0.821990	0.16678	.	.	ENSG00000197013	ENST00000358491	T	0.02236	4.38	0.926	-1.35	0.09114	Krueppel-associated box (4);	.	.	.	.	T	0.03263	0.0095	M	0.64630	1.985	0.09310	N	1	P	0.36974	0.576	B	0.38921	0.285	T	0.38607	-0.9653	9	0.48119	T	0.1	.	6.7281	0.23369	0.0:0.0:0.727:0.273	.	24	Q86V71	ZN429_HUMAN	T	24	ENSP00000351280:A24T	ENSP00000351280:A24T	A	+	1	0	ZNF429	21504366	0.000000	0.05858	0.098000	0.21074	0.100000	0.18952	0.082000	0.14847	0.308000	0.22923	0.313000	0.20887	GCA		0.418	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF429	353088	broad.mit.edu	37	19	21719517	21719517	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:21719517G>T	ENST00000358491.4	+	4	870	c.662G>T	c.(661-663)aGa>aTa	p.R221I	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R221I(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AACCATAAGAGAATTTATGTT	0.358																																					p.R221I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662T	19						.						56.0	61.0	59.0					19																	21719517		2161	4270	6431	21511357	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.662G>T	19.37:g.21719517G>T	ENSP00000351280:p.Arg221Ile		21511357	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	7.183	0.589908	0.13812	.	.	ENSG00000197013	ENST00000358491	T	0.02446	4.29	0.81	-0.534	0.11883	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	L	0.27053	0.805	0.32895	D	0.512448	B	0.19073	0.033	B	0.06405	0.002	T	0.26643	-1.0097	9	0.44086	T	0.13	.	6.0723	0.19895	0.2437:0.0:0.7563:0.0	.	221	Q86V71	ZN429_HUMAN	I	221	ENSP00000351280:R221I	ENSP00000351280:R221I	R	+	2	0	ZNF429	21511357	0.000000	0.05858	0.158000	0.22627	0.157000	0.22087	0.205000	0.17356	0.181000	0.19994	0.184000	0.17185	AGA		0.358	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF100	163227	broad.mit.edu	37	19	21910188	21910188	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:21910188C>A	ENST00000358296.6	-	5	1124	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF100_ENST00000305570.6_Missense_Mutation_p.R245I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	309					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.R309I(1)|p.R309T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGTATGAATTCTTTTATGTGT	0.388																																					p.R309I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G926T	19						.						46.0	49.0	48.0					19																	21910188		2192	4296	6488	21702028	SO:0001583	missense	163227	exon5			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.926G>T	19.37:g.21910188C>A	ENSP00000351042:p.Arg309Ile		21702028	NM_173531	Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	0.398	-0.919898	0.02396	.	.	ENSG00000197020	ENST00000358296	T	0.02446	4.29	0.907	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	M	0.69185	2.1	0.39550	D	0.968959	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.42103	-0.9471	9	0.23302	T	0.38	.	2.6738	0.05075	0.2733:0.5235:0.0:0.2032	.	309;363	Q8IYN0;Q4G131	ZN100_HUMAN;.	I	309	ENSP00000351042:R309I	ENSP00000351042:R309I	R	-	2	0	ZNF100	21702028	0.000000	0.05858	0.045000	0.18777	0.045000	0.14185	0.024000	0.13555	-0.888000	0.03956	-0.898000	0.02899	AGA		0.388	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531	
ZNF208	7757	broad.mit.edu	37	19	22155133	22155133	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22155133G>T	ENST00000397126.4	-	4	2851	c.2703C>A	c.(2701-2703)ttC>ttA	p.F901L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	901					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.F801L(2)|p.F901L(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)				TAAGGATGGAGAACATACTAA	0.383																																					p.F901L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2703A	19						.						51.0	55.0	54.0					19																	22155133		2102	4230	6332	21946973	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.2703C>A	19.37:g.22155133G>T	ENSP00000380315:p.Phe901Leu		21946973	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007447	0.02112	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.13901	2.55	2.9	-5.81	0.02340	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	.	.	.	0.09310	N	1	P	0.42248	0.774	B	0.43331	0.416	T	0.14980	-1.0453	8	0.09590	T	0.72	.	1.3826	0.02233	0.3123:0.148:0.391:0.1486	.	801	O43345	ZN208_HUMAN	L	901;801	ENSP00000380315:F901L	ENSP00000380315:F901L	F	-	3	2	ZNF208	21946973	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.183000	0.03079	-1.808000	0.01234	0.289000	0.19496	TTC		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22157350	22157350	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22157350T>C	ENST00000397126.4	-	4	634	c.486A>G	c.(484-486)agA>agG	p.R162R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	162					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.R162R(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATCTTATGTCTGTTTGAAT	0.308																																					p.R162R												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A486G	19						.						116.0	112.0	114.0					19																	22157350		2031	4227	6258	21949190	SO:0001819	synonymous_variant	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.486A>G	19.37:g.22157350T>C			21949190	NM_007153		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.308	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF98	148198	broad.mit.edu	37	19	22574592	22574592	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22574592A>G	ENST00000357774.5	-	4	1566	c.1445T>C	c.(1444-1446)gTa>gCa	p.V482A		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	482					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.V482A(2)		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)				AGTATGAATTACCTTATGTTT	0.378																																					p.V482A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1445C	19						.						56.0	50.0	52.0					19																	22574592		2107	4182	6289	22366432	SO:0001583	missense	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.1445T>C	19.37:g.22574592A>G	ENSP00000350418:p.Val482Ala		22366432	NM_001098626		Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	3.630	-0.075815	0.07184	.	.	ENSG00000197360	ENST00000357774	T	0.16196	2.36	1.26	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.17312	0.475	0.09310	N	1	B	0.15473	0.013	B	0.22152	0.038	T	0.32929	-0.9888	9	0.34782	T	0.22	.	5.767	0.18231	0.2557:0.5668:0.1775:0.0	.	482	A6NK75	ZNF98_HUMAN	A	482	ENSP00000350418:V482A	ENSP00000350418:V482A	V	-	2	0	ZNF98	22366432	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.690000	0.05138	-1.449000	0.01938	-0.805000	0.03199	GTA		0.378	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
ZNF99	7652	broad.mit.edu	37	19	22940528	22940528	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22940528G>T	ENST00000596209.1	-	4	2273	c.2183C>A	c.(2182-2184)aCt>aAt	p.T728N	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.T637N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	728					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.T637N(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)				TTTCTCTCCAGTATGAATTAT	0.368																																					p.T637N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1910A	19						.						32.0	34.0	33.0					19																	22940528		2023	4180	6203	22732368	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.2183C>A	19.37:g.22940528G>T	ENSP00000472969:p.Thr728Asn		22732368	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.644673	0.29246	.	.	ENSG00000213973	ENST00000397104	T	0.26067	1.76	0.726	0.726	0.18248	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28566	0.0707	L	0.52759	1.655	0.28780	N	0.899902	P	0.37061	0.58	B	0.43867	0.434	T	0.28964	-1.0027	9	0.66056	D	0.02	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	637	A8MXY4	ZNF99_HUMAN	N	637	ENSP00000380293:T637N	ENSP00000380293:T637N	T	-	2	0	ZNF99	22732368	0.753000	0.28349	0.018000	0.16275	0.041000	0.13682	0.935000	0.28924	0.680000	0.31366	0.400000	0.26472	ACT		0.368	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	22940986	22940986	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22940986C>A	ENST00000596209.1	-	4	1815	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	ZNF99_ENST00000397104.3_Missense_Mutation_p.K484N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	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)	p.K484N(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)				GTGAAGATTGCTTAAAAGCTT	0.368																																					p.K484N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1452T	19						.						50.0	54.0	53.0					19																	22940986		2099	4234	6333	22732826	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.1725G>T	19.37:g.22940986C>A	ENSP00000472969:p.Lys575Asn		22732826	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.401707	0.00014	.	.	ENSG00000213973	ENST00000397104	T	0.08102	3.13	1.44	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.16037	0.36	0.09310	N	1	B	0.12630	0.006	B	0.17722	0.019	T	0.46005	-0.9222	9	0.11485	T	0.65	.	0.4596	0.00514	0.2006:0.161:0.202:0.4364	.	484	A8MXY4	ZNF99_HUMAN	N	484	ENSP00000380293:K484N	ENSP00000380293:K484N	K	-	3	2	ZNF99	22732826	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-7.797000	0.00029	-1.053000	0.03218	0.194000	0.17425	AAG		0.368	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	22941342	22941342	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:22941342C>A	ENST00000596209.1	-	4	1459	c.1369G>T	c.(1369-1371)Gaa>Taa	p.E457*	ZNF99_ENST00000397104.3_Nonsense_Mutation_p.E366*	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	457					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.E366*(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)				TTGCTGCATTCTTCACATTTG	0.368																																					p.E366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	19						.						71.0	74.0	73.0					19																	22941342		2041	4221	6262	22733182	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.1369G>T	19.37:g.22941342C>A	ENSP00000472969:p.Glu457*		22733182	NM_001080409	M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	13.41	2.227511	0.39399	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.28	-2.28	0.06826	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.0864	0.14684	0.0:0.618:0.2123:0.1697	.	.	.	.	X	366	.	ENSP00000380293:E366X	E	-	1	0	ZNF99	22733182	0.000000	0.05858	0.003000	0.11579	0.059000	0.15707	-0.889000	0.04144	-0.130000	0.11599	0.395000	0.25975	GAA		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469). {ECO:0000305}.	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.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393																																					p.R333H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	19						.						72.0	76.0	75.0					19																	23544783		2120	4254	6374	23336623	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.998G>A	19.37:g.23544783C>T	ENSP00000300619:p.Arg333His		23336623	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075438	0.08485	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17854	2.25;2.25	1.97	-3.94	0.04130	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07279	0.0184	N	0.20845	0.615	0.09310	N	1	P;D	0.61080	0.566;0.989	B;B	0.41988	0.043;0.372	T	0.25257	-1.0137	9	0.14252	T	0.57	.	3.5074	0.07696	0.1773:0.4543:0.0:0.3684	rs410211	301;333	Q05481-2;Q05481	.;ZNF91_HUMAN	H	333;301	ENSP00000300619:R333H;ENSP00000380272:R301H	ENSP00000300619:R333H	R	-	2	0	ZNF91	23336623	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.698000	0.01908	-0.928000	0.03761	0.162000	0.16502	CGT		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ZNF675	171392	broad.mit.edu	37	19	23836153	23836153	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:23836153T>G	ENST00000359788.4	-	4	1750	c.1582A>C	c.(1582-1584)Ata>Cta	p.I528L	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	528					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I528L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTATGAATTATCTTATGTTCA	0.348																																					p.I528L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1582C	19						.						65.0	67.0	66.0					19																	23836153		2202	4299	6501	23627993	SO:0001583	missense	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1582A>C	19.37:g.23836153T>G	ENSP00000352836:p.Ile528Leu		23627993	NM_138330	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	1.771	-0.484398	0.04383	.	.	ENSG00000197372	ENST00000359788	T	0.18016	2.24	0.886	0.886	0.19194	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.01228	-0.945	0.23624	N	0.997263	B	0.18741	0.03	B	0.18561	0.022	T	0.34875	-0.9811	9	0.59425	D	0.04	.	6.7351	0.23405	0.0:0.0:0.0:1.0	.	528	Q8TD23	ZN675_HUMAN	L	528	ENSP00000352836:I528L	ENSP00000352836:I528L	I	-	1	0	ZNF675	23627993	0.000000	0.05858	0.874000	0.34290	0.873000	0.50193	-1.723000	0.01866	0.257000	0.21650	0.254000	0.18369	ATA		0.348	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
ZNF681	148213	broad.mit.edu	37	19	23928124	23928124	+	Splice_Site	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:23928124A>C	ENST00000402377.3	-	4	369	c.228T>G	c.(226-228)gtT>gtG	p.V76V	ZNF681_ENST00000395385.3_Splice_Site_p.V7V	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	76					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.V7V(1)|p.V76V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAGAACAAATAACTGAAAGAA	0.299																																					p.V76V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T228G	19						.						16.0	16.0	16.0					19																	23928124		2185	4272	6457	23719964	SO:0001630	splice_region_variant	148213	exon4			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.227-1T>G	19.37:g.23928124A>C			23719964	NM_138286	B3KVF7	Silent	SNP	ENST00000402377.3	37	CCDS12414.2																																																																																				0.299	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	Silent
URI1	8725	broad.mit.edu	37	19	30477222	30477222	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:30477222A>C	ENST00000542441.2	+	4	562	c.265A>C	c.(265-267)Aaa>Caa	p.K89Q	URI1_ENST00000312051.6_Missense_Mutation_p.K49Q|URI1_ENST00000392271.1_Missense_Mutation_p.K13Q|URI1_ENST00000360605.4_Missense_Mutation_p.K71Q			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	89					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.K89Q(1)									CATGCCAGGAAAACTTGTCCA	0.373																																					p.K89Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A265C	19						.						147.0	140.0	142.0					19																	30477222		2203	4300	6503	35169062	SO:0001583	missense	8725	exon4			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.265A>C	19.37:g.30477222A>C	ENSP00000442436:p.Lys89Gln		35169062	NM_003796	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970016	0.53614	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.43688	0.94;0.94;0.94	5.25	4.18	0.49190	Prefoldin (1);Prefoldin subunit (1);	0.144833	0.64402	D	0.000007	T	0.35770	0.0943	L	0.31371	0.925	0.47949	D	0.999559	P;P;P	0.39576	0.514;0.489;0.679	B;B;B	0.43052	0.187;0.328;0.406	T	0.17349	-1.0372	10	0.41790	T	0.15	-25.6984	12.7194	0.57134	0.8636:0.1364:0.0:0.0	.	49;89;87	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	Q	87;13;89;49	ENSP00000376097:K13Q;ENSP00000442436:K89Q;ENSP00000312530:K49Q	ENSP00000312530:K49Q	K	+	1	0	C19orf2	35169062	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.750000	0.68712	2.121000	0.65114	0.460000	0.39030	AAA		0.373	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
NMRK2	27231	broad.mit.edu	37	19	3941108	3941108	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:3941108C>T	ENST00000168977.2	+	7	725	c.435C>T	c.(433-435)ttC>ttT	p.F145F	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Silent_p.F150F	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	145					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)	p.F145F(1)									CCGGCCTCTTCGATGGCCACG	0.582																																					p.F145F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C435T	19						.						140.0	122.0	128.0					19																	3941108		2203	4300	6503	3892108	SO:0001819	synonymous_variant	27231	exon7			AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.435C>T	19.37:g.3941108C>T			3892108	NM_170678	B7ZKR3|Q52M81|Q9NZK3	Silent	SNP	ENST00000168977.2	37	CCDS12115.1																																																																																				0.582	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678	
GPATCH1	55094	broad.mit.edu	37	19	33600679	33600679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:33600679G>T	ENST00000170564.2	+	11	1656	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	448					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.E448*(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGAATCAAAGAAATGAAGCA	0.473																																					p.E448X	Pancreas(67;88 1713 4567 18227)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1342T	19						.						41.0	45.0	43.0					19																	33600679		2203	4300	6503	38292519	SO:0001587	stop_gained	55094	exon11			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1342G>T	19.37:g.33600679G>T	ENSP00000170564:p.Glu448*		38292519	NM_018025	Q8IZV6|Q8N3B7|Q9NW94	Nonsense_Mutation	SNP	ENST00000170564.2	37	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	41	8.848263	0.98976	.	.	ENSG00000076650	ENST00000170564	.	.	.	5.74	5.74	0.90152	.	0.260679	0.46442	D	0.000294	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-37.4643	18.9258	0.92544	0.0:0.0:1.0:0.0	.	.	.	.	X	448	.	ENSP00000170564:E448X	E	+	1	0	GPATCH1	38292519	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.221000	0.58574	2.719000	0.93026	0.655000	0.94253	GAA		0.473	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	
LSM14A	26065	broad.mit.edu	37	19	34699900	34699900	+	Missense_Mutation	SNP	C	C	T	rs572136254		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:34699900C>T	ENST00000433627.5	+	4	557	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LSM14A_ENST00000540746.2_Intron|LSM14A_ENST00000544216.3_Missense_Mutation_p.A161V	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	161					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.A161V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAAAGTAGTGCGGTTGGTTCT	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17464	0.0		0.0	False		,,,				2504	0.0				p.A161V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482T	19						.						75.0	69.0	71.0					19																	34699900		2202	4300	6502	39391740	SO:0001583	missense	26065	exon4			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.482C>T	19.37:g.34699900C>T	ENSP00000413964:p.Ala161Val		39391740	NM_001114093	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983721	0.53827	.	.	ENSG00000257103	ENST00000544216;ENST00000433627	T;T	0.33654	1.41;1.4	5.3	4.24	0.50183	.	0.561534	0.19616	N	0.110002	T	0.26268	0.0641	L	0.33485	1.01	0.39388	D	0.966372	B;B	0.31837	0.342;0.007	B;B	0.20577	0.03;0.002	T	0.05852	-1.0860	10	0.19590	T	0.45	-4.4257	16.1108	0.81261	0.0:0.8659:0.1341:0.0	.	161;161	Q8ND56;Q8ND56-2	LS14A_HUMAN;.	V	161	ENSP00000446271:A161V;ENSP00000413964:A161V	ENSP00000314768:A161V	A	+	2	0	LSM14A	39391740	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	5.652000	0.67959	1.316000	0.45131	0.557000	0.71058	GCG		0.343	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
ZNF181	339318	broad.mit.edu	37	19	35232812	35232812	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:35232812G>T	ENST00000492450.1	+	4	1615	c.1526G>T	c.(1525-1527)aGa>aTa	p.R509I	ZNF181_ENST00000392232.3_Missense_Mutation_p.R553I|ZNF181_ENST00000459757.2_Missense_Mutation_p.R508I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R445I(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTACATCAGAGAATTCACACT	0.388																																					p.R508I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523T	19						.						55.0	61.0	59.0					19																	35232812		2203	4300	6503	39924652	SO:0001583	missense	339318	exon4			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1526G>T	19.37:g.35232812G>T	ENSP00000420727:p.Arg509Ile		39924652	NM_001145665	B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715158	0.48622	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	T;T;T	0.24908	1.83;1.83;1.83	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39937	0.1097	M	0.79011	2.435	0.39036	D	0.960039	D;D	0.62365	0.991;0.991	P;P	0.57468	0.821;0.821	T	0.39121	-0.9629	9	0.51188	T	0.08	.	5.6258	0.17482	0.1499:0.0:0.8501:0.0	.	508;509	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	I	553;509;508	ENSP00000376065:R553I;ENSP00000420727:R509I;ENSP00000419435:R508I	ENSP00000376065:R553I	R	+	2	0	ZNF181	39924652	0.112000	0.22096	1.000000	0.80357	0.998000	0.95712	2.678000	0.46900	1.839000	0.53478	0.655000	0.94253	AGA		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997	
ZNF599	148103	broad.mit.edu	37	19	35250402	35250402	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:35250402C>T	ENST00000329285.8	-	4	1677	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S435N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAAGGAAGAGCTGTCACAAAA	0.448																																					p.S435N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1304A	19						.						61.0	59.0	60.0					19																	35250402		2203	4300	6503	39942242	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1304G>A	19.37:g.35250402C>T	ENSP00000333802:p.Ser435Asn		39942242	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	3.999	-0.002907	0.07773	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.36157	1.27	2.53	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24236	0.0587	L	0.37800	1.135	0.09310	N	0.999999	B	0.14012	0.009	B	0.11329	0.006	T	0.23726	-1.0180	9	0.21014	T	0.42	.	6.2269	0.20714	0.2978:0.7022:0.0:0.0	.	435	Q96NL3	ZN599_HUMAN	N	434;435;209	ENSP00000333802:S435N	ENSP00000333802:S435N	S	-	2	0	ZNF599	39942242	0.000000	0.05858	0.292000	0.24919	0.996000	0.88848	-1.306000	0.02735	0.564000	0.29238	0.491000	0.48974	AGC		0.448	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
ZNF599	148103	broad.mit.edu	37	19	35251262	35251262	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:35251262C>A	ENST00000329285.8	-	4	817	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	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.E148D(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AACTCAACTTCTCAGGGCATA	0.448																																					p.E148D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G444T	19						.						135.0	141.0	139.0					19																	35251262		2203	4300	6503	39943102	SO:0001583	missense	148103	exon4			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.444G>T	19.37:g.35251262C>A	ENSP00000333802:p.Glu148Asp		39943102	NM_001007248	Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	5.159	0.214996	0.09810	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.25749	1.78	2.57	1.49	0.22878	.	.	.	.	.	T	0.12050	0.0293	N	0.14661	0.345	0.23156	N	0.998202	B	0.19583	0.037	B	0.18263	0.021	T	0.32640	-0.9899	9	0.21014	T	0.42	.	4.0339	0.09721	0.0:0.5035:0.0:0.4965	.	148	Q96NL3	ZN599_HUMAN	D	147;148	ENSP00000333802:E148D	ENSP00000333802:E148D	E	-	3	2	ZNF599	39943102	0.000000	0.05858	0.015000	0.15790	0.171000	0.22731	0.064000	0.14437	0.514000	0.28300	0.491000	0.48974	GAG		0.448	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
NPHS1	4868	broad.mit.edu	37	19	36339600	36339600	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:36339600A>G	ENST00000378910.5	-	9	1108	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.V370A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	370	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.V370A(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGTAGCAGAACCCGCGGGCG	0.602																																					p.V370A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1109C	19						.						55.0	51.0	52.0					19																	36339600		2203	4300	6503	41031440	SO:0001583	missense	4868	exon9				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1109T>C	19.37:g.36339600A>G	ENSP00000368190:p.Val370Ala		41031440	NM_004646	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151548	0.38021	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.74526	-0.85;-0.85	5.43	4.41	0.53225	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	N	0.12502	0.225	0.47183	D	0.999345	D	0.58970	0.984	P	0.56563	0.801	T	0.59579	-0.7428	10	0.09084	T	0.74	-30.7701	8.8504	0.35196	0.9119:0.0:0.0881:0.0	.	370	O60500	NPHN_HUMAN	A	370	ENSP00000368190:V370A;ENSP00000343634:V370A	ENSP00000343634:V370A	V	-	2	0	NPHS1	41031440	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	3.675000	0.54605	2.081000	0.62600	0.378000	0.23410	GTT		0.602	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
ANKRD24	170961	broad.mit.edu	37	19	4217067	4217067	+	Missense_Mutation	SNP	C	C	T	rs537535275		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:4217067C>T	ENST00000600132.1	+	18	2186	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A637V|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A727V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	637								p.A727V(1)|p.A503V(1)|p.A637V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAGTGGAGGCCATGGGGGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19551	0.001		0.0	False		,,,				2504	0.0				p.A637V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1910T	19						.						55.0	66.0	62.0					19																	4217067		2088	4201	6289	4168067	SO:0001583	missense	170961	exon18			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1910C>T	19.37:g.4217067C>T	ENSP00000471252:p.Ala637Val		4168067	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	-	4.327	0.059997	0.08339	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37411	1.2;1.28	2.81	0.487	0.16842	.	.	.	.	.	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	P;P	0.38677	0.51;0.642	B;B	0.25405	0.016;0.06	T	0.13980	-1.0489	9	0.27785	T	0.31	.	6.3276	0.21253	0.1815:0.7084:0.0:0.1102	.	637;727	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	V	637;727	ENSP00000321731:A637V;ENSP00000262970:A727V	ENSP00000262970:A727V	A	+	2	0	ANKRD24	4168067	0.030000	0.19436	0.011000	0.14972	0.219000	0.24729	0.196000	0.17176	0.204000	0.20548	0.185000	0.17295	GCC		0.567	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
ZFP14	57677	broad.mit.edu	37	19	36832236	36832236	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:36832236G>A	ENST00000270001.7	-	5	607	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	164					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.I164I(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CATTATGAACGATCTGATACT	0.388																																					p.I164I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C492T	19						.						164.0	158.0	160.0					19																	36832236		2203	4300	6503	41524076	SO:0001819	synonymous_variant	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.492C>T	19.37:g.36832236G>A			41524076	NM_020917	A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZNF382	84911	broad.mit.edu	37	19	37118264	37118264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37118264G>T	ENST00000292928.2	+	5	1578	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Nonsense_Mutation_p.E488*|ZNF382_ENST00000435416.1_Nonsense_Mutation_p.E488*|ZNF382_ENST00000423582.1_Nonsense_Mutation_p.E440*	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	489	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E489*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACATACAGGAGAAAAATCCAA	0.443																																					p.E489X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1465T	19						.						59.0	62.0	61.0					19																	37118264		2203	4300	6503	41810104	SO:0001587	stop_gained	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1465G>T	19.37:g.37118264G>T	ENSP00000292928:p.Glu489*		41810104	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Nonsense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	49	15.278673	0.99828	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	.	.	.	4.27	4.27	0.50696	.	0.000000	0.43919	D	0.000511	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.5487	0.68050	0.0:0.0:1.0:0.0	.	.	.	.	X	440;489;488;488	.	ENSP00000292928:E489X	E	+	1	0	ZNF382	41810104	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.280000	0.65603	2.375000	0.81037	0.591000	0.81541	GAA		0.443	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF790	388536	broad.mit.edu	37	19	37309484	37309484	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37309484G>T	ENST00000356725.4	-	5	1882	c.1762C>A	c.(1762-1764)Ctc>Atc	p.L588I	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	588					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.L588I(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)			CATTCACAGAGATTTGCACTA	0.333																																					p.L588I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1762A	19						.						103.0	107.0	106.0					19																	37309484		2203	4300	6503	42001324	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.1762C>A	19.37:g.37309484G>T	ENSP00000349161:p.Leu588Ile		42001324	NM_206894		Missense_Mutation	SNP	ENST00000356725.4	37	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649820	0.29336	.	.	ENSG00000197863	ENST00000356725	T	0.15603	2.41	2.75	1.65	0.23941	.	.	.	.	.	T	0.14141	0.0342	L	0.37850	1.14	0.09310	N	1	B	0.24186	0.099	B	0.16722	0.016	T	0.21827	-1.0234	9	0.72032	D	0.01	.	10.3963	0.44203	0.0:0.2024:0.7976:0.0	.	588	Q6PG37	ZN790_HUMAN	I	588	ENSP00000349161:L588I	ENSP00000349161:L588I	L	-	1	0	ZNF790	42001324	0.061000	0.20836	0.233000	0.24025	0.659000	0.38960	2.219000	0.42899	0.459000	0.27016	-0.282000	0.10007	CTC		0.333	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF568	374900	broad.mit.edu	37	19	37427732	37427732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37427732C>T	ENST00000333987.7	+	5	726	c.220C>T	c.(220-222)Cga>Tga	p.R74*	ZNF568_ENST00000455427.2_Nonsense_Mutation_p.R10*|ZNF568_ENST00000427117.1_Nonsense_Mutation_p.R74*|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R10*	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	74	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.R10*(1)|p.R74*(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)			AAACTTGTATCGAGATGTGAT	0.423																																					p.R74X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C220T	19						.						109.0	109.0	109.0					19																	37427732		2203	4300	6503	42119572	SO:0001587	stop_gained	374900	exon5			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.220C>T	19.37:g.37427732C>T	ENSP00000334685:p.Arg74*		42119572	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	38	6.962021	0.97967	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000415168;ENST00000444991;ENST00000455427	.	.	.	4.69	2.4	0.29515	.	0.000000	0.32081	N	0.006601	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8634	0.41129	0.3679:0.6321:0.0:0.0	.	.	.	.	X	74;74;10;74;10	.	ENSP00000334685:R74X	R	+	1	2	ZNF568	42119572	0.463000	0.25799	0.992000	0.48379	0.967000	0.64934	-0.049000	0.11924	1.154000	0.42482	0.655000	0.94253	CGA		0.423	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF585A	199704	broad.mit.edu	37	19	37642672	37642672	+	Missense_Mutation	SNP	C	C	T	rs144602706		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37642672C>T	ENST00000356958.4	-	5	2387	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	ZNF585A_ENST00000292841.5_Missense_Mutation_p.R655Q|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.R347Q|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R655Q			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	710					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.R655Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGTGAATTCGCTGATGCAC	0.438																																					p.R655Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1964A	19						.	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	73.0	78.0		1964,1964	3.2	0.8	19	dbSNP_134	78	0,8594		0,0,4297	no	missense,missense	ZNF585A	NM_152655.2,NM_199126.1	43,43	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	655/715,655/715	37642672	1,12999	2203	4297	6500	42334512	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.2129G>A	19.37:g.37642672C>T	ENSP00000349440:p.Arg710Gln		42334512	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	20.5	3.997914	0.74818	2.27E-4	0.0	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.16	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30510	N	0.009464	T	0.44414	0.1292	.	.	.	0.26273	N	0.978392	D	0.89917	1.0	D	0.80764	0.994	T	0.14008	-1.0488	9	0.72032	D	0.01	.	9.1822	0.37149	0.2177:0.7823:0.0:0.0	.	710	Q6P3V2	Z585A_HUMAN	Q	710;655;655;347	ENSP00000349440:R710Q;ENSP00000292841:R655Q;ENSP00000375998:R655Q;ENSP00000347724:R347Q	ENSP00000292841:R655Q	R	-	2	0	ZNF585A	42334512	0.000000	0.05858	0.753000	0.31225	0.983000	0.72400	1.273000	0.33121	1.753000	0.51906	0.655000	0.94253	CGA		0.438	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643409	37643409	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37643409C>A	ENST00000356958.4	-	5	1650	c.1392G>T	c.(1390-1392)aaG>aaT	p.K464N	ZNF585A_ENST00000292841.5_Missense_Mutation_p.K409N|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K409N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	464					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.K409N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATATAGGGCTTTTCTCCTG	0.393																																					p.K409N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1227T	19						.						125.0	121.0	122.0					19																	37643409		2203	4300	6503	42335249	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.1392G>T	19.37:g.37643409C>A	ENSP00000349440:p.Lys464Asn		42335249	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	12.53	1.965659	0.34659	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.26067	1.76;1.76;1.76	2.63	0.363	0.16118	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.195067	0.25189	N	0.032462	T	0.22627	0.0546	.	.	.	0.80722	D	1	P	0.45531	0.86	B	0.42959	0.403	T	0.02654	-1.1128	9	0.87932	D	0	.	6.0242	0.19646	0.0:0.2595:0.0:0.7405	.	464	Q6P3V2	Z585A_HUMAN	N	464;409;409	ENSP00000349440:K464N;ENSP00000292841:K409N;ENSP00000375998:K409N	ENSP00000292841:K409N	K	-	3	2	ZNF585A	42335249	0.000000	0.05858	0.923000	0.36655	0.719000	0.41307	-1.378000	0.02556	-0.129000	0.11620	-1.817000	0.00601	AAG		0.393	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF569	148266	broad.mit.edu	37	19	37903537	37903537	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37903537A>G	ENST00000316950.6	-	6	2580	c.2023T>C	c.(2023-2025)Tcg>Ccg	p.S675P	ZNF569_ENST00000392149.2_Missense_Mutation_p.S675P|ZNF569_ENST00000392150.2_Missense_Mutation_p.S516P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					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.S675P(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAAGGTGCGACTTTTGGCTG	0.413																																					p.S675P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2023C	19						.						116.0	118.0	117.0					19																	37903537		2203	4300	6503	42595377	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2023T>C	19.37:g.37903537A>G	ENSP00000325018:p.Ser675Pro		42595377	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307277	0.40795	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.32988	1.43;2.2	3.93	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28376	N	0.015564	T	0.51295	0.1666	M	0.79805	2.47	0.09310	N	1	B;D	0.54601	0.115;0.967	B;D	0.65874	0.052;0.939	T	0.33445	-0.9868	10	0.72032	D	0.01	.	9.1541	0.36983	0.7077:0.2923:0.0:0.0	.	516;675	Q17RR6;Q5MCW4	.;ZN569_HUMAN	P	675;331;516	ENSP00000325018:S675P;ENSP00000375993:S516P	ENSP00000325018:S675P	S	-	1	0	ZNF569	42595377	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	0.054000	0.14205	1.770000	0.52166	0.460000	0.39030	TCG		0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37904585	37904585	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:37904585A>C	ENST00000316950.6	-	6	1532	c.975T>G	c.(973-975)ccT>ccG	p.P325P	ZNF569_ENST00000392149.2_Silent_p.P325P|ZNF569_ENST00000392150.2_Silent_p.P166P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	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)	p.P325P(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATGCATAAGGTTTCTCCC	0.388																																					p.P325P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T975G	19						.						138.0	136.0	137.0					19																	37904585		2203	4300	6503	42596425	SO:0001819	synonymous_variant	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.975T>G	19.37:g.37904585A>C			42596425	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF793	390927	broad.mit.edu	37	19	38023267	38023267	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38023267T>C	ENST00000587143.1	+	4	260	c.25T>C	c.(25-27)Tca>Cca	p.S9P	ZNF793_ENST00000588578.1_Missense_Mutation_p.S9P|ZNF793_ENST00000587986.1_Missense_Mutation_p.S9P|ZNF793_ENST00000589319.1_Missense_Mutation_p.S9P|ZNF793_ENST00000445217.1_Missense_Mutation_p.S9P|ZNF793_ENST00000542455.1_Missense_Mutation_p.S9P			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	9	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.S9P(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATACCTGTGTCATTCAAAGA	0.493																																					p.S9P	Melanoma(44;400 1431 1499 19093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T25C	19						.						53.0	55.0	54.0					19																	38023267		2161	4289	6450	42715107	SO:0001583	missense	390927	exon6			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.25T>C	19.37:g.38023267T>C	ENSP00000468605:p.Ser9Pro		42715107	NM_001013659	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663075	0.47572	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01981	4.52;4.52	3.53	2.39	0.29439	Krueppel-associated box (4);	.	.	.	.	T	0.06690	0.0171	M	0.93720	3.45	0.23043	N	0.99838	P;P	0.48503	0.911;0.801	B;B	0.42163	0.378;0.378	T	0.26052	-1.0114	9	0.87932	D	0	.	5.787	0.18338	0.3658:0.0:0.0:0.6342	.	9;9	Q6ZN11;E9PGN4	ZN793_HUMAN;.	P	9;9;9;8	ENSP00000444355:S9P;ENSP00000396402:S9P	ENSP00000318811:S8P	S	+	1	0	ZNF793	42715107	0.998000	0.40836	1.000000	0.80357	0.518000	0.34316	1.072000	0.30678	1.590000	0.49995	0.460000	0.39030	TCA		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659	
ZNF571	51276	broad.mit.edu	37	19	38056518	38056518	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38056518C>A	ENST00000328550.2	-	4	911	c.812G>T	c.(811-813)aGa>aTa	p.R271I	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R271I|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R271I|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.R271I|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R271I(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)			ACTATGAATTCTCTGATGAAG	0.373																																					p.R271I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G812T	19						.						41.0	42.0	42.0					19																	38056518		2203	4298	6501	42748358	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.812G>T	19.37:g.38056518C>A	ENSP00000333660:p.Arg271Ile		42748358	NM_016536	Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205309	0.39003	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.24908	1.83;1.83;1.83	3.7	2.66	0.31614	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35770	0.0943	M	0.64170	1.965	0.42382	D	0.992492	P	0.43431	0.807	P	0.51135	0.66	T	0.10800	-1.0614	9	0.49607	T	0.09	.	10.1108	0.42561	0.0:0.8958:0.0:0.1042	.	271	Q7Z3V5	ZN571_HUMAN	I	271	ENSP00000333660:R271I;ENSP00000392638:R271I;ENSP00000351594:R271I	ENSP00000333660:R271I	R	-	2	0	ZNF571	42748358	0.000000	0.05858	0.993000	0.49108	0.324000	0.28378	-0.903000	0.04084	0.747000	0.32809	0.313000	0.20887	AGA		0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
ZNF540	163255	broad.mit.edu	37	19	38102515	38102515	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38102515C>T	ENST00000592533.1	+	5	666	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	ZNF540_ENST00000343599.5_Missense_Mutation_p.R112C|ZNF540_ENST00000589117.1_Missense_Mutation_p.R80C|ZNF540_ENST00000316433.4_Missense_Mutation_p.R112C|ZNF540_ENST00000586792.1_3'UTR	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	112					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.R112C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAAACTCTTCGTCTGAAAGG	0.333																																					p.R112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C334T	19						.						107.0	121.0	116.0					19																	38102515		2203	4300	6503	42794355	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.334C>T	19.37:g.38102515C>T	ENSP00000466274:p.Arg112Cys		42794355	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	C	8.700	0.909450	0.17833	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.09163	3.01	2.04	-1.6	0.08426	.	.	.	.	.	T	0.04003	0.0112	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	0.38628	-0.9652	9	0.56958	D	0.05	.	3.7901	0.08716	0.0:0.4232:0.3393:0.2375	.	80;112	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	C	112;80	ENSP00000324598:R112C	ENSP00000324598:R112C	R	+	1	0	ZNF540	42794355	0.155000	0.22806	0.000000	0.03702	0.164000	0.22412	-0.129000	0.10515	-0.255000	0.09486	0.313000	0.20887	CGT		0.333	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZNF540	163255	broad.mit.edu	37	19	38103730	38103730	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38103730C>A	ENST00000592533.1	+	5	1881	c.1549C>A	c.(1549-1551)Cac>Aac	p.H517N	ZNF540_ENST00000343599.5_Missense_Mutation_p.H517N|ZNF540_ENST00000589117.1_Missense_Mutation_p.H485N|ZNF540_ENST00000316433.4_Missense_Mutation_p.H517N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	517					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.H517N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAGAATTCACACTGGTGA	0.363																																					p.H517N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1549A	19						.						73.0	78.0	76.0					19																	38103730		2203	4300	6503	42795570	SO:0001583	missense	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1549C>A	19.37:g.38103730C>A	ENSP00000466274:p.His517Asn		42795570	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982560	0.93044	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.67345	-0.26;1.34	2.39	2.39	0.29439	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85075	0.5614	H	0.94183	3.505	0.30648	N	0.755686	D;D	0.76494	0.999;0.999	D;D	0.79108	0.986;0.992	T	0.83131	-0.0113	9	0.87932	D	0	.	11.8424	0.52361	0.0:1.0:0.0:0.0	.	485;517	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	517;485	ENSP00000324598:H517N;ENSP00000343768:H485N	ENSP00000324598:H517N	H	+	1	0	ZNF540	42795570	0.991000	0.36638	0.115000	0.21578	0.985000	0.73830	3.854000	0.55949	1.313000	0.45069	0.305000	0.20034	CAC		0.363	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZNF781	163115	broad.mit.edu	37	19	38160221	38160221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38160221C>A	ENST00000590008.1	-	5	1681	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Nonsense_Mutation_p.E277*|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E277*(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAATTCTCTGGTGTTG	0.368																																					p.E277X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G829T	19						.						87.0	90.0	89.0					19																	38160221		2203	4300	6503	42852061	SO:0001587	stop_gained	163115	exon4			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.829G>T	19.37:g.38160221C>A	ENSP00000466370:p.Glu277*		42852061	NM_152605	Q2VPJ8	Nonsense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054786	0.98032	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	.	.	.	2.47	-0.0973	0.13633	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.1485	5.7755	0.18277	0.0:0.5062:0.3728:0.121	.	.	.	.	X	277	.	ENSP00000351391:E277X	E	-	1	0	ZNF781	42852061	0.000000	0.05858	0.031000	0.17742	0.010000	0.07245	-0.012000	0.12699	-0.062000	0.13088	-0.385000	0.06624	GAA		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605	
ZNF573	126231	broad.mit.edu	37	19	38230678	38230678	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:38230678C>A	ENST00000590414.2	-	4	734	c.713G>T	c.(712-714)aGa>aTa	p.R238I	ZNF573_ENST00000357309.3_Missense_Mutation_p.R150I|ZNF573_ENST00000392138.1_Missense_Mutation_p.R151I|ZNF573_ENST00000339503.4_Missense_Mutation_p.R180I|ZNF573_ENST00000536220.1_Missense_Mutation_p.R150I			Q86YE8	ZN573_HUMAN	zinc finger protein 573	238					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.R180I(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)			AGTGTGAATTCTCTCATGTTG	0.448																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	19						.						116.0	108.0	111.0					19																	38230678		2203	4300	6503	42922518	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.713G>T	19.37:g.38230678C>A	ENSP00000465020:p.Arg238Ile		42922518	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212986	0.58452	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.64	1.59	0.23543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33177	0.0854	L	0.39467	1.215	0.35935	D	0.832796	D;D;D;D	0.76494	0.996;0.996;0.999;0.998	P;P;P;P	0.61800	0.887;0.829;0.894;0.829	T	0.32824	-0.9892	9	0.52906	T	0.07	.	8.1637	0.31213	0.0:0.8701:0.0:0.1299	.	151;180;218;150	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	I	151;150;150;180;150	ENSP00000375983:R151I;ENSP00000440464:R150I;ENSP00000349861:R150I;ENSP00000340171:R180I	ENSP00000340171:R180I	R	-	2	0	ZNF573	42922518	0.000000	0.05858	0.870000	0.34147	0.986000	0.74619	-1.676000	0.01946	0.315000	0.23110	0.650000	0.86243	AGA		0.448	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
RYR1	6261	broad.mit.edu	37	19	39005728	39005728	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:39005728A>G	ENST00000359596.3	+	64	9535	c.9535A>G	c.(9535-9537)Aag>Gag	p.K3179E	RYR1_ENST00000355481.4_Missense_Mutation_p.K3179E|RYR1_ENST00000360985.3_Missense_Mutation_p.K3179E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3179					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.K3179E(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)	GGGAACCACCAAGAACACTTA	0.607											OREG0025449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K3179E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9535G	19						.						62.0	55.0	57.0					19																	39005728		2203	4300	6503	43697568	SO:0001583	missense	6261	exon64			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.9535A>G	19.37:g.39005728A>G	ENSP00000352608:p.Lys3179Glu	882	43697568	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417389	0.62622	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	T;T;T	0.64991	-0.13;-0.13;-0.13	4.67	4.67	0.58626	.	0.069980	0.53938	U	0.000053	T	0.66187	0.2764	M	0.80982	2.52	0.31753	N	0.634284	B;B;B	0.33694	0.421;0.167;0.104	B;B;B	0.37601	0.254;0.169;0.081	T	0.73062	-0.4101	10	0.36615	T	0.2	.	13.9206	0.63928	1.0:0.0:0.0:0.0	.	3179;3179;3179	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	E	3179;3179;3179;99	ENSP00000352608:K3179E;ENSP00000347667:K3179E;ENSP00000354254:K3179E	ENSP00000347667:K3179E	K	+	1	0	RYR1	43697568	1.000000	0.71417	0.949000	0.38748	0.839000	0.47603	7.245000	0.78237	1.944000	0.56390	0.533000	0.62120	AAG		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
DLL3	10683	broad.mit.edu	37	19	39991276	39991276	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:39991276G>A	ENST00000205143.4	+	3	380	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	DLL3_ENST00000356433.5_Missense_Mutation_p.E125K	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	125					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.E125K(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTTCATCATCGAAACCTGGAG	0.537																																					p.E125K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	19						.						146.0	141.0	143.0					19																	39991276		2203	4300	6503	44683116	SO:0001583	missense	10683	exon3			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.373G>A	19.37:g.39991276G>A	ENSP00000205143:p.Glu125Lys		44683116	NM_203486	E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144960	0.94603	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.92805	-3.04;-3.11	4.45	4.45	0.53987	.	0.339252	0.21369	N	0.075669	D	0.96062	0.8717	M	0.84846	2.72	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.991;0.991	D	0.96052	0.9032	9	.	.	.	.	14.8434	0.70243	0.0:0.0:1.0:0.0	.	125;125;125	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	K	125	ENSP00000348810:E125K;ENSP00000205143:E125K	.	E	+	1	0	DLL3	44683116	1.000000	0.71417	0.951000	0.38953	0.969000	0.65631	7.364000	0.79526	2.426000	0.82243	0.561000	0.74099	GAA		0.537	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1		
LGALS14	56891	broad.mit.edu	37	19	40197310	40197310	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:40197310T>G	ENST00000392052.3	+	2	312	c.89T>G	c.(88-90)tTt>tGt	p.F30C	LGALS14_ENST00000360675.3_Missense_Mutation_p.F59C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	30	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.F59C(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)			ATCCTCACTTTTGTGTGAGTA	0.488																																					p.F30C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T89G	19						.						222.0	178.0	193.0					19																	40197310		2203	4300	6503	44889150	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.89T>G	19.37:g.40197310T>G	ENSP00000375905:p.Phe30Cys		44889150	NM_020129	A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	8.368	0.834598	0.16820	.	.	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.18016	2.24;2.24	0.906	-0.182	0.13287	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.22399	0.0540	M	0.64080	1.96	0.46260	D	0.998954	P;P	0.45594	0.806;0.862	P;P	0.51999	0.687;0.614	T	0.09422	-1.0675	9	0.49607	T	0.09	.	3.0038	0.06021	0.0:0.3013:0.0:0.6987	.	30;59	Q8TCE9;A8MPV8	PPL13_HUMAN;.	C	30;59	ENSP00000375905:F30C;ENSP00000353893:F59C	ENSP00000353893:F59C	F	+	2	0	LGALS14	44889150	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	0.160000	0.16462	-0.146000	0.11274	-0.815000	0.03128	TTT		0.488	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129	
LYPD4	147719	broad.mit.edu	37	19	42342062	42342062	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:42342062G>T	ENST00000330743.3	-	4	1696	c.485C>A	c.(484-486)tCt>tAt	p.S162Y	AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000601246.1_Missense_Mutation_p.S127Y|LYPD4_ENST00000343055.4_Missense_Mutation_p.S127Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	162	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.S162Y(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGGGGCAAGAATTAGTGGT	0.493																																					p.S162Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C485A	19						.						76.0	73.0	74.0					19																	42342062		2203	4300	6503	47033902	SO:0001583	missense	147719	exon4			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.485C>A	19.37:g.42342062G>T	ENSP00000328737:p.Ser162Tyr		47033902	NM_173506	Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.260194	0.23051	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.70749	-0.51;-0.51	4.13	-0.535	0.11879	CD59 antigen (1);	0.798013	0.10997	N	0.610978	T	0.60779	0.2295	L	0.51422	1.61	0.09310	N	1	P;P	0.36392	0.495;0.551	B;B	0.38562	0.181;0.276	T	0.54616	-0.8267	10	0.62326	D	0.03	-0.0648	3.7443	0.08542	0.268:0.0:0.5476:0.1844	.	127;162	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	162;127	ENSP00000328737:S162Y;ENSP00000339568:S127Y	ENSP00000328737:S162Y	S	-	2	0	LYPD4	47033902	0.136000	0.22515	0.066000	0.19879	0.045000	0.14185	0.279000	0.18771	0.016000	0.14998	0.457000	0.33378	TCT		0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	
ATP1A3	478	broad.mit.edu	37	19	42482426	42482426	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:42482426G>A	ENST00000302102.5	-	13	1833	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	ATP1A3_ENST00000602133.1_Silent_p.F531F|ATP1A3_ENST00000545399.1_Silent_p.F574F|ATP1A3_ENST00000543770.1_Silent_p.F572F	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	561					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.F561F(2)		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						CATCACAGTCGAAGGCAAAGC	0.607																																					p.F561F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1683T	19						.						75.0	72.0	73.0					19																	42482426		2203	4300	6503	47174266	SO:0001819	synonymous_variant	478	exon13				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.1683C>T	19.37:g.42482426G>A			47174266	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	CCDS12594.1																																																																																				0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
POU2F2	5452	broad.mit.edu	37	19	42626525	42626525	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:42626525C>T	ENST00000526816.2	-	3	115	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	POU2F2_ENST00000529952.1_Missense_Mutation_p.E34K|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000389341.5_Missense_Mutation_p.E34K|POU2F2_ENST00000560398.1_Missense_Mutation_p.E34K|POU2F2_ENST00000533720.1_Missense_Mutation_p.E34K|POU2F2_ENST00000529067.1_Missense_Mutation_p.E34K|POU2F2_ENST00000342301.4_Missense_Mutation_p.E34K|POU2F2_ENST00000560558.1_Missense_Mutation_p.E34K			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	34					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E34K(1)		kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CCATTTCTTTCGGTGTCTGCA	0.582																																					p.E34K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	19						.						137.0	125.0	129.0					19																	42626525		2203	4300	6503	47318365	SO:0001583	missense	5452	exon3				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.100G>A	19.37:g.42626525C>T	ENSP00000431603:p.Glu34Lys		47318365	NM_002698	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582937	0.65992	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	D;D;D;D;D	0.85088	-1.87;-1.94;-1.94;-1.68;-1.86	3.56	3.56	0.40772	.	2.677360	0.01454	N	0.015615	T	0.78272	0.4257	L	0.29908	0.895	0.38021	D	0.934831	B;P;B	0.47253	0.196;0.892;0.196	B;B;B	0.32677	0.011;0.15;0.011	T	0.72554	-0.4258	10	0.59425	D	0.04	.	12.5321	0.56122	0.0:1.0:0.0:0.0	.	34;34;34	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	K	34;34;34;34;33;34;34;22	ENSP00000373992:E34K;ENSP00000339369:E34K;ENSP00000437221:E34K;ENSP00000437224:E34K;ENSP00000436988:E34K	ENSP00000292077:E34K	E	-	1	0	POU2F2	47318365	0.994000	0.37717	0.976000	0.42696	0.989000	0.77384	3.421000	0.52742	2.005000	0.58758	0.478000	0.44815	GAA		0.582	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
CEACAM8	1088	broad.mit.edu	37	19	43093759	43093759	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:43093759G>T	ENST00000244336.5	-	3	654	c.553C>A	c.(553-555)Ctc>Atc	p.L185I	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	185	Ig-like C2-type 1.				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.L185I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527																																					p.L185I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C553A	19						.						239.0	210.0	220.0					19																	43093759		2203	4300	6503	47785599	SO:0001583	missense	1088	exon3			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.553C>A	19.37:g.43093759G>T	ENSP00000244336:p.Leu185Ile		47785599	NM_001816	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.221609	0.39300	.	.	ENSG00000124469	ENST00000244336	T	0.49139	0.79	2.46	1.23	0.21249	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61198	0.2328	M	0.73753	2.245	0.09310	N	1	D	0.54601	0.967	D	0.63488	0.915	T	0.46317	-0.9200	9	0.87932	D	0	.	6.3657	0.21453	0.0:0.3131:0.6869:0.0	.	185	P31997	CEAM8_HUMAN	I	185	ENSP00000244336:L185I	ENSP00000244336:L185I	L	-	1	0	CEACAM8	47785599	0.001000	0.12720	0.011000	0.14972	0.077000	0.17291	0.101000	0.15251	1.387000	0.46486	0.313000	0.20887	CTC		0.527	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
PSG11	5680	broad.mit.edu	37	19	43529161	43529161	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:43529161T>G	ENST00000401740.1	-	2	215	c.112A>C	c.(112-114)Att>Ctt	p.I38L	PSG11_ENST00000320078.7_Missense_Mutation_p.I38L|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	38	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I38L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGGGCTTCAATCATGACTTGG	0.468																																					p.I38L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A112C	19						.						199.0	202.0	201.0					19																	43529161		2201	4295	6496	48221001	SO:0001583	missense	5675	exon2			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.112A>C	19.37:g.43529161T>G	ENSP00000384995:p.Ile38Leu		48221001	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	t	12.05	1.821771	0.32237	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.01725	4.67;4.67	0.929	-0.193	0.13244	Immunoglobulin-like fold (1);	.	.	.	.	T	0.07818	0.0196	M	0.83852	2.665	0.09310	N	1	D	0.61697	0.99	D	0.87578	0.998	T	0.21999	-1.0229	9	0.87932	D	0	.	2.7795	0.05357	0.0:0.3533:0.0:0.6467	.	38	Q9UQ72	PSG11_HUMAN	L	38	ENSP00000319140:I38L;ENSP00000384995:I38L	ENSP00000319140:I38L	I	-	1	0	PSG11	48221001	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.460000	0.06720	-0.109000	0.12044	0.155000	0.16302	ATT		0.468	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	
PSG4	5672	broad.mit.edu	37	19	43699230	43699230	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:43699230C>T	ENST00000405312.3	-	4	1142	c.905G>A	c.(904-906)aGa>aAa	p.R302K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.R209K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	302	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.R302K(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)				TGTTTCATTTCTCGTGACATT	0.478																																					p.R302K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	19						.						223.0	204.0	210.0					19																	43699230		2202	4295	6497	48391070	SO:0001583	missense	5672	exon4				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.905G>A	19.37:g.43699230C>T	ENSP00000384770:p.Arg302Lys		48391070	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	3.363	-0.130030	0.06753	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.12039	2.72;2.72	1.45	1.45	0.22620	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17874	0.0429	M	0.74258	2.255	0.09310	N	1	B;B	0.22604	0.072;0.041	B;B	0.39339	0.297;0.097	T	0.48906	-0.8993	9	0.05436	T	0.98	.	6.2719	0.20959	0.0:1.0:0.0:0.0	.	209;302	E7EX79;Q00888	.;PSG4_HUMAN	K	302;209	ENSP00000384770:R302K;ENSP00000387864:R209K	ENSP00000384770:R302K	R	-	2	0	PSG4	48391070	0.001000	0.12720	0.067000	0.19924	0.007000	0.05969	0.713000	0.25794	0.774000	0.33427	0.391000	0.25812	AGA		0.478	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
ZNF404	342908	broad.mit.edu	37	19	44378171	44378171	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:44378171T>C	ENST00000587539.1	-	3	194	c.195A>G	c.(193-195)gtA>gtG	p.V65V	ZNF404_ENST00000324394.6_Silent_p.V63V	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	65	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.V63V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GGTACGCATTTACTTCATAAT	0.318																																					p.V62V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A186G	19						.						41.0	42.0	42.0					19																	44378171		1810	4059	5869	49070011	SO:0001819	synonymous_variant	342908	exon2			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.195A>G	19.37:g.44378171T>C			49070011	NM_001033719	A4FU30|K7ELF2	Silent	SNP	ENST00000587539.1	37	CCDS59394.1																																																																																				0.318	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719	
ZNF224	7767	broad.mit.edu	37	19	44611396	44611396	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:44611396G>A	ENST00000336976.6	+	6	1337	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	361					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T361T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATCTTTATACGCATCATATGG	0.438																																					p.T361T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1083A	19						.						106.0	102.0	103.0					19																	44611396		2203	4300	6503	49303236	SO:0001819	synonymous_variant	7767	exon6			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1083G>A	19.37:g.44611396G>A			49303236	NM_013398	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Silent	SNP	ENST00000336976.6	37	CCDS33046.1																																																																																				0.438	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398	
ZNF235	9310	broad.mit.edu	37	19	44793149	44793149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:44793149C>A	ENST00000291182.4	-	5	541	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E147*(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)				TGAATAGATTCTCCTGCTCCC	0.428																																					p.E147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G439T	19						.						89.0	91.0	90.0					19																	44793149		2203	4300	6503	49484989	SO:0001587	stop_gained	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.439G>T	19.37:g.44793149C>A	ENSP00000291182:p.Glu147*		49484989	NM_004234	B4DTQ7|O14898|O14899|Q17RR8	Nonsense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067505	0.93898	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182;ENST00000359844	.	.	.	3.92	0.384	0.16244	.	0.778461	0.10471	N	0.670758	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	4.4299	0.11522	0.0:0.5144:0.1749:0.3107	.	.	.	.	X	143;147;147;69	.	ENSP00000291182:E147X	E	-	1	0	ZNF235	49484989	0.014000	0.17966	0.047000	0.18901	0.858000	0.48976	0.588000	0.23924	0.339000	0.23719	0.462000	0.41574	GAA		0.428	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1		
ZNF229	7772	broad.mit.edu	37	19	44934151	44934151	+	Missense_Mutation	SNP	C	C	T	rs553024331		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:44934151C>T	ENST00000588931.1	-	6	1238	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.E263K	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E269K(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCTGTATTCGTTACTTTTC	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19489	0.0		0.0	False		,,,				2504	0.0				p.E269K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G805A	19						.						88.0	82.0	84.0					19																	44934151		1920	4120	6040	49625991	SO:0001583	missense	7772	exon6			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.805G>A	19.37:g.44934151C>T	ENSP00000466519:p.Glu269Lys		49625991	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980874	0.53827	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	0.298	0.15766	.	.	.	.	.	T	0.23133	0.0559	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.21177	-1.0253	8	0.54805	T	0.06	.	5.8196	0.18520	0.0:0.6443:0.1609:0.1948	.	269	Q9UJW7	ZN229_HUMAN	K	269	.	ENSP00000291187:E269K	E	-	1	0	ZNF229	49625991	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	0.282000	0.18829	0.629000	0.30376	-0.192000	0.12808	GAA		0.423	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
ZNF180	7733	broad.mit.edu	37	19	44981076	44981076	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:44981076C>A	ENST00000221327.4	-	5	1903	c.1622G>T	c.(1621-1623)aGa>aTa	p.R541I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.R516I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R514I|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	541					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.R541I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTGTGAGTTCTTTGATGTGC	0.428																																					p.R541I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622T	19						.						77.0	77.0	77.0					19																	44981076		2203	4300	6503	49672916	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.1622G>T	19.37:g.44981076C>A	ENSP00000221327:p.Arg541Ile		49672916	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332220	0.60853	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.02446	4.29;4.29	5.23	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000394	T	0.05044	0.0135	M	0.61703	1.905	0.80722	D	1	P;P;P	0.39717	0.633;0.684;0.684	B;B;B	0.36959	0.152;0.237;0.237	T	0.26258	-1.0108	10	0.87932	D	0	-27.6018	14.0615	0.64802	0.1515:0.8485:0.0:0.0	.	516;540;541	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	541;516	ENSP00000221327:R541I;ENSP00000375818:R516I	ENSP00000221327:R541I	R	-	2	0	ZNF180	49672916	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.299000	0.19138	2.437000	0.82529	0.467000	0.42956	AGA		0.428	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
PNMAL1	55228	broad.mit.edu	37	19	46973998	46973998	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:46973998C>A	ENST00000313683.10	-	2	600	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	PNMAL1_ENST00000438932.2_Missense_Mutation_p.D99Y|PNMAL1_ENST00000602246.1_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	99								p.D99Y(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tgggtagggtctctacagacc	0.542																																					p.D99Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295T	19						.						48.0	45.0	46.0					19																	46973998		2203	4300	6503	51665838	SO:0001583	missense	55228	exon2			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.295G>T	19.37:g.46973998C>A	ENSP00000318131:p.Asp99Tyr		51665838	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316886	0.60524	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.12039	2.72;2.72	3.36	2.32	0.28847	.	0.197542	0.25127	N	0.032933	T	0.28234	0.0697	M	0.67953	2.075	0.34277	D	0.681746	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.35101	-0.9802	10	0.59425	D	0.04	-15.5645	6.6377	0.22891	0.0:0.8695:0.0:0.1305	.	99;99	Q86V59-2;Q86V59	.;PNML1_HUMAN	Y	99	ENSP00000410273:D99Y;ENSP00000318131:D99Y	ENSP00000318131:D99Y	D	-	1	0	PNMAL1	51665838	0.899000	0.30636	0.997000	0.53966	0.995000	0.86356	1.165000	0.31822	0.992000	0.38840	0.655000	0.94253	GAC		0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
ZC3H4	23211	broad.mit.edu	37	19	47597336	47597336	+	Splice_Site	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:47597336C>T	ENST00000253048.5	-	4	420	c.383G>A	c.(382-384)cGc>cAc	p.R128H	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	128							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R128H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGAAGCATGGCGCTGTAATGA	0.567																																					p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	19						.						59.0	61.0	61.0					19																	47597336		2047	4193	6240	52289176	SO:0001630	splice_region_variant	23211	exon4			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.382-1G>A	19.37:g.47597336C>T			52289176	NM_015168	Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014052	0.75161	.	.	ENSG00000130749	ENST00000253048	T	0.17054	2.3	5.9	5.9	0.94986	.	0.373373	0.27109	N	0.020899	T	0.25158	0.0611	N	0.13140	0.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08027	-1.0742	10	0.10902	T	0.67	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	128	Q9UPT8	ZC3H4_HUMAN	H	128	ENSP00000253048:R128H	ENSP00000253048:R128H	R	-	2	0	ZC3H4	52289176	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.214000	0.77958	2.788000	0.95919	0.650000	0.86243	CGC		0.567	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1		Missense_Mutation
NAPA	8775	broad.mit.edu	37	19	48006731	48006731	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:48006731C>T	ENST00000263354.3	-	2	426	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000593785.1_5'UTR|NAPA_ENST00000595227.1_Missense_Mutation_p.E43K	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	43					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.E43K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCGTAGATTTCGCATGCTTCC	0.478																																					p.E43K	Ovarian(185;1135 2042 27703 31345 42493)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	19						.						192.0	168.0	176.0					19																	48006731		2203	4300	6503	52698543	SO:0001583	missense	8775	exon2			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.127G>A	19.37:g.48006731C>T	ENSP00000263354:p.Glu43Lys		52698543	NM_003827	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791893	0.90453	.	.	ENSG00000105402	ENST00000263354	T	0.37584	1.19	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.100973	0.64402	D	0.000003	T	0.52661	0.1748	M	0.91038	3.17	0.80722	D	1	P	0.37636	0.603	B	0.38106	0.265	T	0.64647	-0.6358	10	0.72032	D	0.01	-4.4277	17.8382	0.88707	0.0:1.0:0.0:0.0	.	43	P54920	SNAA_HUMAN	K	43	ENSP00000263354:E43K	ENSP00000263354:E43K	E	-	1	0	NAPA	52698543	1.000000	0.71417	0.964000	0.40570	0.990000	0.78478	7.321000	0.79088	2.735000	0.93741	0.655000	0.94253	GAA		0.478	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827	
PLA2G4C	8605	broad.mit.edu	37	19	48565266	48565266	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:48565266C>T	ENST00000599921.1	-	14	1603	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.D416N|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.D416N|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.D426N|CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR|CTD-2265M8.2_ENST00000601548.1_RNA			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	416	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.D416N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCGAAAGGATCTCCGGCACTG	0.627																																					p.D416N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246A	19						.						90.0	88.0	89.0					19																	48565266		2203	4300	6503	53257078	SO:0001583	missense	8605	exon14			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1246G>A	19.37:g.48565266C>T	ENSP00000469473:p.Asp416Asn		53257078	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777654	0.49786	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.11063	2.81;2.81	2.79	2.79	0.32731	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.174869	0.36482	U	0.002575	T	0.09730	0.0239	L	0.47716	1.5	0.26216	N	0.979236	B;B	0.31227	0.212;0.314	B;B	0.31869	0.137;0.073	T	0.20240	-1.0281	10	0.25106	T	0.35	-5.1386	9.3872	0.38349	0.0:1.0:0.0:0.0	.	426;416	B4DI40;Q9UP65	.;PA24C_HUMAN	N	416	ENSP00000346228:D416N;ENSP00000400036:D416N	ENSP00000346228:D416N	D	-	1	0	PLA2G4C	53257078	0.984000	0.35163	0.395000	0.26283	0.569000	0.35902	3.267000	0.51577	1.270000	0.44297	0.405000	0.27470	GAT		0.627	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
CCDC114	93233	broad.mit.edu	37	19	48801292	48801292	+	Silent	SNP	C	C	T	rs201076998		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:48801292C>T	ENST00000315396.7	-	12	2038	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	452					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.P245P(1)|p.P452P(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCATCTTCTTCGGAAGGTCCT	0.672																																					p.P452P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1356A	19						.						44.0	44.0	44.0					19																	48801292		2203	4300	6503	53493104	SO:0001819	synonymous_variant	93233	exon12			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1356G>A	19.37:g.48801292C>T			53493104	NM_144577	Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	CCDS12714.2																																																																																				0.672	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577	
LMTK3	114783	broad.mit.edu	37	19	49004638	49004638	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:49004638C>A	ENST00000600059.1	-	9	1130	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LMTK3_ENST00000270238.3_Missense_Mutation_p.E330D			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E330D(1)|p.E316D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCCACAGGCGCTCTGGGGTCA	0.677																																					p.E330D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G990T	19						.						44.0	53.0	50.0					19																	49004638		1973	4141	6114	53696450	SO:0001583	missense	114783	exon10			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.903G>T	19.37:g.49004638C>A	ENSP00000472020:p.Glu301Asp		53696450	NM_001080434	Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	C	6.028	0.373450	0.11409	.	.	ENSG00000142235	ENST00000270238	D	0.83163	-1.69	4.13	1.87	0.25490	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.075250	0.50627	D	0.000120	T	0.53045	0.1772	N	0.02854	-0.475	0.27757	N	0.943972	B	0.19331	0.035	B	0.21917	0.037	T	0.50233	-0.8852	10	0.02654	T	1	.	4.5995	0.12347	0.1764:0.6162:0.0:0.2074	.	301	Q96Q04	LMTK3_HUMAN	D	330	ENSP00000270238:E330D	ENSP00000270238:E330D	E	-	3	2	LMTK3	53696450	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.969000	0.29370	0.866000	0.35629	0.449000	0.29647	GAG		0.677	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
KLK12	43849	broad.mit.edu	37	19	51532592	51532592	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:51532592A>G	ENST00000525263.1	-	5	832	c.713T>C	c.(712-714)gTg>gCg	p.V238A	KLK12_ENST00000529888.1_3'UTR|KLK11_ENST00000594768.1_5'Flank|KLK11_ENST00000594458.1_5'Flank|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Intron|KLK11_ENST00000453757.3_5'Flank|KLK11_ENST00000391804.3_5'Flank|KLK12_ENST00000319590.4_Missense_Mutation_p.V238A			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GATCCAGTCCACATACTTGCA	0.562																																					p.V238A												.	.	1	Unknown(1)	large_intestine(1)	c.T713C	19						.						143.0	137.0	139.0					19																	51532592		2203	4300	6503	56224404	SO:0001583	missense	43849	exon6				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.713T>C	19.37:g.51532592A>G	ENSP00000436458:p.Val238Ala		56224404	NM_145894	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	ENST00000525263.1	37	CCDS12821.1	.	.	.	.	.	.	.	.	.	.	a	6.271	0.418151	0.11870	.	.	ENSG00000186474	ENST00000525263;ENST00000319590	D;D	0.93133	-3.17;-3.17	4.33	-0.4	0.12411	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88526	0.6460	L	0.36672	1.1	0.09310	N	1	B;B	0.34200	0.441;0.161	B;B	0.40256	0.324;0.091	T	0.79720	-0.1685	9	0.52906	T	0.07	.	3.7101	0.08416	0.5457:0.0:0.2953:0.159	.	128;238	B9EGA9;Q9UKR0	.;KLK12_HUMAN	A	238	ENSP00000436458:V238A;ENSP00000324181:V238A	ENSP00000324181:V238A	V	-	2	0	KLK12	56224404	0.000000	0.05858	0.650000	0.29550	0.090000	0.18270	0.116000	0.15561	-0.243000	0.09653	-0.463000	0.05309	GTG		0.562	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598	
CD33	945	broad.mit.edu	37	19	51728611	51728611	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:51728611T>G	ENST00000262262.4	+	2	196	c.175T>G	c.(175-177)Tac>Gac	p.Y59D	CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.Y59D|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	59	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|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.Y59D(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGTTCATGGTTACTGGTTCCG	0.537																																					p.Y59D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T175G	19						.						89.0	87.0	88.0					19																	51728611		2203	4300	6503	56420423	SO:0001583	missense	945	exon2			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.175T>G	19.37:g.51728611T>G	ENSP00000262262:p.Tyr59Asp		56420423	NM_001772	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	15.43	2.832303	0.50845	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.68181	-0.31;-0.31	3.49	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29178	U	0.012901	T	0.82079	0.4959	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.989;0.995	D	0.83903	0.0291	10	0.87932	D	0	.	8.5496	0.33444	0.0:0.0:0.0:1.0	.	59;59	F8WAL2;P20138	.;CD33_HUMAN	D	59	ENSP00000262262:Y59D;ENSP00000375673:Y59D	ENSP00000262262:Y59D	Y	+	1	0	CD33	56420423	0.313000	0.24554	0.814000	0.32528	0.595000	0.36748	1.407000	0.34657	1.593000	0.50029	0.533000	0.62120	TAC		0.537	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772	
SIGLEC12	89858	broad.mit.edu	37	19	52000625	52000625	+	Missense_Mutation	SNP	A	A	G	rs567922711		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52000625A>G	ENST00000291707.3	-	6	1535	c.1480T>C	c.(1480-1482)Tac>Cac	p.Y494H	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.Y376H	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	494			Y -> S (in dbSNP:rs3752135).		cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Y494H(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGCAGAAGTACAGGAAGACC	0.557																																					p.Y376H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1126C	19						.						164.0	144.0	151.0					19																	52000625		2203	4300	6503	56692437	SO:0001583	missense	89858	exon5			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""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"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1480T>C	19.37:g.52000625A>G	ENSP00000291707:p.Tyr494His		56692437	NM_033329	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.711	-0.787231	0.02907	.	.	ENSG00000254521	ENST00000291707	T	0.37584	1.19	1.5	0.367	0.16140	.	1.213390	0.06410	U	0.720387	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B;B	0.27068	0.104;0.167	B;B	0.18263	0.008;0.021	T	0.22382	-1.0218	10	0.15952	T	0.53	.	4.3007	0.10923	0.6402:0.3598:0.0:0.0	.	494;376	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	H	494	ENSP00000291707:Y494H	ENSP00000291707:Y494H	Y	-	1	0	SIGLEC12	56692437	0.000000	0.05858	0.002000	0.10522	0.232000	0.25224	0.062000	0.14389	0.054000	0.16065	0.325000	0.21440	TAC		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
CATSPERD	257062	broad.mit.edu	37	19	5745965	5745965	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:5745965C>T	ENST00000381624.3	+	9	760	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	233					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.F233F(3)									ACCGGAGTTTCGGGCTGTCTT	0.532																																					p.F233F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C699T	19						.						167.0	160.0	163.0					19																	5745965		1888	4121	6009	5696965	SO:0001819	synonymous_variant	257062	exon9			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.699C>T	19.37:g.5745965C>T			5696965	NM_152784	Q6ZRP1	Silent	SNP	ENST00000381624.3	37	CCDS12149.2																																																																																				0.532	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
SIGLEC12	89858	broad.mit.edu	37	19	52003562	52003562	+	Intron	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52003562G>T	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.F22L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.?(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACGCTGTGGAGAAACGAGGGT	0.607																																					p.F22L												.	.	1	Unknown(1)	large_intestine(1)	c.C66A	19						.						57.0	51.0	53.0					19																	52003562		2203	4300	6503	56695374	SO:0001627	intron_variant	89858	exon1			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""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"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-8C>A	19.37:g.52003562G>T			56695374	NM_033329	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
ZNF613	79898	broad.mit.edu	37	19	52447560	52447560	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52447560T>G	ENST00000293471.6	+	6	1103	c.424T>G	c.(424-426)Tta>Gta	p.L142V	ZNF613_ENST00000391794.4_Missense_Mutation_p.L106V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)	p.L142V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAATTTAAGTTTAGTCAACCA	0.333																																					p.L106V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T316G	19						.						70.0	71.0	71.0					19																	52447560		2203	4300	6503	57139372	SO:0001583	missense	79898	exon6			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.424T>G	19.37:g.52447560T>G	ENSP00000293471:p.Leu142Val		57139372	NM_024840	Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	T	1.355	-0.590255	0.03799	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.07216	3.35;3.21	3.14	-0.425	0.12317	.	0.326503	0.17289	N	0.179731	T	0.05227	0.0139	L	0.41236	1.265	0.09310	N	1	B	0.25850	0.136	B	0.18871	0.023	T	0.35051	-0.9804	10	0.62326	D	0.03	.	0.3871	0.00404	0.2242:0.1373:0.2305:0.4081	.	142	Q6PF04	ZN613_HUMAN	V	142;106	ENSP00000293471:L142V;ENSP00000375671:L106V	ENSP00000293471:L142V	L	+	1	2	ZNF613	57139372	0.067000	0.21026	0.021000	0.16686	0.012000	0.07955	0.779000	0.26746	-0.025000	0.13918	0.528000	0.53228	TTA		0.333	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840	
ZNF614	80110	broad.mit.edu	37	19	52519387	52519387	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52519387G>A	ENST00000270649.6	-	5	2008	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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.C488C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGATTTTCCGCACTCGGTAC	0.413																																					p.C488C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464T	19						.						171.0	158.0	163.0					19																	52519387		2203	4300	6503	57211199	SO:0001819	synonymous_variant	80110	exon5			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1464C>T	19.37:g.52519387G>A			57211199	NM_025040	Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	CCDS12847.1																																																																																				0.413	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040	
ZNF836	162962	broad.mit.edu	37	19	52658321	52658321	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52658321C>T	ENST00000322146.8	-	5	3136	c.2615G>A	c.(2614-2616)gGg>gAg	p.G872E	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.G872E	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	872					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.G872E(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGAAAACCGCCCAAAGGCCTT	0.403																																					p.G872E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2615A	19						.						101.0	110.0	107.0					19																	52658321		2193	4296	6489	57350133	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.2615G>A	19.37:g.52658321C>T	ENSP00000325038:p.Gly872Glu		57350133	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291553	0.40494	.	.	ENSG00000196267	ENST00000322146	T	0.17528	2.27	2.15	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.11789	0.175	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.33394	-0.9870	9	0.18276	T	0.48	.	12.9141	0.58197	0.0:0.2662:0.7338:0.0	.	872	Q6ZNA1	ZN836_HUMAN	E	872	ENSP00000325038:G872E	ENSP00000325038:G872E	G	-	2	0	ZNF836	57350133	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-3.429000	0.00474	-0.252000	0.09528	0.484000	0.47621	GGG		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF836	162962	broad.mit.edu	37	19	52659104	52659104	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52659104T>G	ENST00000322146.8	-	5	2353	c.1832A>C	c.(1831-1833)aAa>aCa	p.K611T	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.K611T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	611					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.K611T(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACATTACATTTGTAAGGTTT	0.418																																					p.K611T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1832C	19						.						127.0	138.0	134.0					19																	52659104		2150	4277	6427	57350916	SO:0001583	missense	162962	exon5			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1832A>C	19.37:g.52659104T>G	ENSP00000325038:p.Lys611Thr		57350916	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.660339	0.29515	.	.	ENSG00000196267	ENST00000322146	T	0.18810	2.19	2.09	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31734	0.0806	L	0.48218	1.51	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.12528	-1.0544	9	0.33940	T	0.23	.	4.8695	0.13625	0.0:0.3097:0.0:0.6903	.	611	Q6ZNA1	ZN836_HUMAN	T	611	ENSP00000325038:K611T	ENSP00000325038:K611T	K	-	2	0	ZNF836	57350916	0.000000	0.05858	0.400000	0.26346	0.786000	0.44442	-0.027000	0.12371	0.087000	0.17167	0.397000	0.26171	AAA		0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF610	162963	broad.mit.edu	37	19	52869103	52869103	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:52869103C>T	ENST00000403906.3	+	6	928	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	ZNF610_ENST00000321287.8_Missense_Mutation_p.R158C|ZNF610_ENST00000327920.8_Missense_Mutation_p.R158C|ZNF610_ENST00000601151.1_Missense_Mutation_p.R115C	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	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.R158C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TACAAACCATCGTTCCTCAGT	0.343																																					p.R158C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472T	19						.						83.0	92.0	89.0					19																	52869103		2203	4300	6503	57560915	SO:0001583	missense	162963	exon6			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.472C>T	19.37:g.52869103C>T	ENSP00000383922:p.Arg158Cys		57560915	NM_173530	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	C	9.779	1.174739	0.21704	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.05649	3.41;3.41	1.11	-2.21	0.06973	.	.	.	.	.	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42344	-0.9457	9	0.45353	T	0.12	.	2.0091	0.03484	0.4052:0.3103:0.0:0.2845	.	115;158	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	C	158;115;158	ENSP00000383922:R158C;ENSP00000327597:R158C	ENSP00000324441:R115C	R	+	1	0	ZNF610	57560915	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.603000	0.02077	-0.778000	0.04566	-0.823000	0.03104	CGT		0.343	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	
ZNF578	147660	broad.mit.edu	37	19	53015178	53015178	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53015178A>C	ENST00000421239.2	+	6	1788	c.1544A>C	c.(1543-1545)gAa>gCa	p.E515A	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	515					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.E515A(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGTGTAATGAATGTGGGAAG	0.408																																					p.E515A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1544C	19						.						86.0	89.0	88.0					19																	53015178		2203	4300	6503	57706990	SO:0001583	missense	147660	exon6			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.1544A>C	19.37:g.53015178A>C	ENSP00000459216:p.Glu515Ala		57706990	NM_001099694	B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.82	2.052265	0.36181	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.48	0.247	0.15521	.	.	.	.	.	T	0.27594	0.0678	L	0.39326	1.205	0.09310	N	1	B	0.27765	0.188	B	0.21360	0.034	T	0.16808	-1.0390	7	.	.	.	.	5.4535	0.16578	0.7501:0.0:0.0:0.2498	.	515	G3V4F6	.	A	515	.	.	E	+	2	0	ZNF578	57706990	0.001000	0.12720	0.001000	0.08648	0.219000	0.24729	1.049000	0.30392	-0.138000	0.11434	0.246000	0.17985	GAA		0.408	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
ZNF808	388558	broad.mit.edu	37	19	53058676	53058676	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53058676G>A	ENST00000359798.4	+	5	2687	c.2507G>A	c.(2506-2508)cGt>cAt	p.R836H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	836					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)		CACCTTTCACGTCATCATAGA	0.353																																					p.R836H												.	.	0			c.G2507A	19						.						103.0	107.0	106.0					19																	53058676		2203	4300	6503	57750488	SO:0001583	missense	388558	exon5			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2507G>A	19.37:g.53058676G>A	ENSP00000352846:p.Arg836His		57750488	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.370	0.436408	0.12104	.	.	ENSG00000198482	ENST00000359798	T	0.26810	1.71	1.51	0.377	0.16198	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33381	0.0861	M	0.64997	1.995	0.09310	N	1	D	0.59357	0.985	P	0.54706	0.759	T	0.13845	-1.0494	9	0.42905	T	0.14	.	4.8058	0.13319	0.3625:0.0:0.6375:0.0	.	836	Q8N4W9	ZN808_HUMAN	H	836	ENSP00000352846:R836H	ENSP00000352846:R836H	R	+	2	0	ZNF808	57750488	0.000000	0.05858	0.000000	0.03702	0.181000	0.23173	-5.262000	0.00136	-0.021000	0.14009	0.205000	0.17691	CGT		0.353	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ZNF611	81856	broad.mit.edu	37	19	53209724	53209724	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53209724C>A	ENST00000319783.1	-	7	900	c.584G>T	c.(583-585)aGa>aTa	p.R195I	ZNF611_ENST00000595798.1_Missense_Mutation_p.R126I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R195I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R195I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R126I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R126I|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	195					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.R195I(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)		ACAGGAAATTCTTTGGAATGT	0.388																																					p.R126I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377T	19						.						122.0	127.0	125.0					19																	53209724		2203	4300	6503	57901536	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.584G>T	19.37:g.53209724C>A	ENSP00000322427:p.Arg195Ile		57901536	NM_001161501	B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369794	0.11352	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.10763	2.99;2.99;2.84;2.99	1.97	0.841	0.18918	.	.	.	.	.	T	0.12561	0.0305	M	0.71871	2.18	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.25117	-1.0141	9	0.54805	T	0.06	.	5.6776	0.17757	0.3195:0.6805:0.0:0.0	.	195	Q8N823	ZN611_HUMAN	I	195;195;126;195	ENSP00000437616:R195I;ENSP00000439211:R195I;ENSP00000443505:R126I;ENSP00000322427:R195I	ENSP00000322427:R195I	R	-	2	0	ZNF611	57901536	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.299000	0.08254	0.147000	0.19030	-0.864000	0.03007	AGA		0.388	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972	
ZNF28	7576	broad.mit.edu	37	19	53303034	53303034	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53303034C>A	ENST00000457749.2	-	4	2183	c.2064G>T	c.(2062-2064)gaG>gaT	p.E688D	ZNF28_ENST00000414252.2_Missense_Mutation_p.E635D|ZNF28_ENST00000360272.4_Missense_Mutation_p.E635D|ZNF28_ENST00000438150.2_Missense_Mutation_p.E635D	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E635D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.408																																					p.E688D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2064T	19						.						145.0	140.0	142.0					19																	53303034		2203	4300	6503	57994846	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2064G>T	19.37:g.53303034C>A	ENSP00000397693:p.Glu688Asp		57994846	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	13.37	2.215968	0.39201	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	1.94	0.852	0.18995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.41632	1.29	0.22389	N	0.99914	B	0.29481	0.245	B	0.33568	0.166	T	0.29488	-1.0010	9	0.59425	D	0.04	.	5.0498	0.14503	0.0:0.673:0.0:0.327	.	688	P17035	ZNF28_HUMAN	D	635;688;635;635	ENSP00000412143:E635D;ENSP00000397693:E688D;ENSP00000353410:E635D;ENSP00000444965:E635D	ENSP00000353410:E635D	E	-	3	2	ZNF28	57994846	0.000000	0.05858	0.041000	0.18516	0.042000	0.13812	-0.578000	0.05841	0.150000	0.19136	0.454000	0.30748	GAG		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF816	125893	broad.mit.edu	37	19	53454606	53454606	+	Missense_Mutation	SNP	C	C	T	rs544136644		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53454606C>T	ENST00000357666.4	-	5	722	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R141Q|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000391786.2_3'UTR	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	141					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.R141Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GTGATCACTTCGGTCTGTACT	0.408													c|||	1	0.000199681	0.0	0.0	5008	,	,		19126	0.001		0.0	False		,,,				2504	0.0				p.R141Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422A	19						.						178.0	182.0	181.0					19																	53454606		2203	4300	6503	58146418	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.422G>A	19.37:g.53454606C>T	ENSP00000350295:p.Arg141Gln		58146418	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	0.019	-1.452459	0.01080	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.04970	3.52;3.52	1.46	0.389	0.16269	.	.	.	.	.	T	0.02267	0.0070	N	0.10618	0.005	0.20196	N	0.999925	B	0.09022	0.002	B	0.06405	0.002	T	0.46261	-0.9204	9	0.02654	T	1	.	3.1278	0.06413	0.0:0.2739:0.0:0.7261	.	141	Q0VGE8	ZN816_HUMAN	Q	141	ENSP00000350295:R141Q;ENSP00000403266:R141Q	ENSP00000350295:R141Q	R	-	2	0	ZNF816	58146418	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.049000	0.03514	0.060000	0.16281	0.205000	0.17691	CGA		0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
ZNF415	55786	broad.mit.edu	37	19	53612171	53612171	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53612171C>T	ENST00000500065.4	-	4	1460	c.1127G>A	c.(1126-1128)aGa>aAa	p.R376K	ZNF415_ENST00000440291.1_Missense_Mutation_p.R363K|ZNF415_ENST00000448501.1_Missense_Mutation_p.R424K|ZNF415_ENST00000601493.1_Missense_Mutation_p.R146K|ZNF415_ENST00000455735.2_Missense_Mutation_p.R424K|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R376K|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R388K|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGTGTGAATTCTCTGATGAGT	0.423																																					p.R376K												.	.	0			c.G1127A	19						.						63.0	59.0	61.0					19																	53612171		2203	4300	6503	58303983	SO:0001583	missense	55786	exon4			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1127G>A	19.37:g.53612171C>T	ENSP00000439435:p.Arg376Lys		58303983	NM_001136038	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291398	0.23564	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	2.67	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	N	0.11756	0.17	0.09310	N	1	P;B;P;B;P;D	0.89917	0.904;0.293;0.922;0.282;0.904;1.0	P;P;P;B;P;D	0.91635	0.67;0.51;0.611;0.194;0.67;0.999	T	0.21621	-1.0240	9	0.36615	T	0.2	.	9.6024	0.39612	0.2118:0.7881:0.0:0.0	.	376;424;424;376;363;388	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	K	376;376;424;388;424;363	ENSP00000243643:R376K;ENSP00000439435:R376K;ENSP00000396492:R424K;ENSP00000395055:R388K;ENSP00000388787:R424K;ENSP00000414601:R363K	ENSP00000243643:R376K	R	-	2	0	ZNF415	58303983	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-2.561000	0.00921	0.425000	0.26087	0.484000	0.47621	AGA		0.423	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355	
ZNF677	342926	broad.mit.edu	37	19	53741152	53741152	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:53741152C>T	ENST00000598513.1	-	5	978	c.828G>A	c.(826-828)tcG>tcA	p.S276S	ZNF677_ENST00000333952.4_Silent_p.S276S|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	276					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.S276S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TAGTGAGGTTCGAACTTTTGC	0.388																																					p.S276S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G828A	19						.						84.0	77.0	79.0					19																	53741152		2203	4300	6503	58432964	SO:0001819	synonymous_variant	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.828G>A	19.37:g.53741152C>T			58432964	NM_182609		Silent	SNP	ENST00000598513.1	37	CCDS12861.1																																																																																				0.388	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
NLRP12	91662	broad.mit.edu	37	19	54314024	54314024	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:54314024C>T	ENST00000324134.6	-	3	1057	c.889G>A	c.(889-891)Gat>Aat	p.D297N	NLRP12_ENST00000345770.5_Missense_Mutation_p.D297N|NLRP12_ENST00000535162.1_Missense_Mutation_p.D297N|NLRP12_ENST00000391772.1_Missense_Mutation_p.D297N|NLRP12_ENST00000354278.3_Missense_Mutation_p.D297N|NLRP12_ENST00000351894.4_Missense_Mutation_p.D297N|NLRP12_ENST00000391775.3_Missense_Mutation_p.D297N|NLRP12_ENST00000391773.1_Missense_Mutation_p.D297N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	297	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.D297N(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGAGCTCATCGAAGCCGTCG	0.582																																					p.D297N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G889A	19						.						46.0	48.0	47.0					19																	54314024		2203	4300	6503	59005836	SO:0001583	missense	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.889G>A	19.37:g.54314024C>T	ENSP00000319377:p.Asp297Asn		59005836	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735969	0.69189	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.47	0.849	0.18972	NACHT nucleoside triphosphatase (1);	0.520533	0.15742	N	0.246874	D	0.90304	0.6967	H	0.95294	3.65	0.80722	D	1	P;B;P;B	0.40731	0.536;0.159;0.728;0.3	B;B;B;B	0.30495	0.116;0.027;0.116;0.104	D	0.89831	0.3996	10	0.87932	D	0	.	13.8241	0.63340	0.0:0.5602:0.4398:0.0	.	297;297;297;297	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	N	297	ENSP00000319377:D297N;ENSP00000438030:D297N;ENSP00000340473:D297N;ENSP00000346231:D297N;ENSP00000375655:D297N;ENSP00000375653:D297N;ENSP00000375652:D297N	ENSP00000319377:D297N	D	-	1	0	NLRP12	59005836	0.976000	0.34144	0.006000	0.13384	0.922000	0.55478	2.588000	0.46137	0.068000	0.16574	0.306000	0.20318	GAT		0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
LILRA4	23547	broad.mit.edu	37	19	54845008	54845008	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:54845008C>A	ENST00000291759.4	-	8	1391	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	445					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.E445D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGATGAGATTCTCCACTGTGT	0.562																																					p.E445D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1335T	19						.						106.0	95.0	99.0					19																	54845008		2203	4300	6503	59536820	SO:0001583	missense	23547	exon8			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1335G>T	19.37:g.54845008C>A	ENSP00000291759:p.Glu445Asp		59536820	NM_012276	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.999098	0.35226	.	.	ENSG00000239961	ENST00000291759	T	0.00514	6.88	3.08	2.04	0.26737	.	7.488640	0.00397	N	0.000043	T	0.00845	0.0028	M	0.71581	2.175	0.09310	N	1	P	0.47302	0.893	B	0.43680	0.427	T	0.49925	-0.8887	10	0.72032	D	0.01	.	6.1842	0.20488	0.0:0.8582:0.0:0.1418	.	445	P59901	LIRA4_HUMAN	D	445	ENSP00000291759:E445D	ENSP00000291759:E445D	E	-	3	2	LILRA4	59536820	0.822000	0.29219	0.055000	0.19348	0.148000	0.21650	1.472000	0.35376	0.870000	0.35726	0.563000	0.77884	GAG		0.562	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
NLRP7	199713	broad.mit.edu	37	19	55452922	55452922	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:55452922T>G	ENST00000590030.1	-	1	198	c.158A>C	c.(157-159)aAa>aCa	p.K53T	NLRP7_ENST00000340844.2_Missense_Mutation_p.K53T|NLRP7_ENST00000446217.1_Missense_Mutation_p.K81T|NLRP7_ENST00000592784.1_Missense_Mutation_p.K53T|NLRP7_ENST00000588756.1_Missense_Mutation_p.K53T|NLRP7_ENST00000448121.2_Missense_Mutation_p.K53T|NLRP7_ENST00000328092.5_Missense_Mutation_p.K53T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	53	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.K53T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTGCCAGTTTCTTGCCATC	0.443																																					p.K53T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A158C	19						.						115.0	109.0	111.0					19																	55452922		2203	4300	6503	60144734	SO:0001583	missense	199713	exon2			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.158A>C	19.37:g.55452922T>G	ENSP00000465520:p.Lys53Thr		60144734	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	9.279	1.047587	0.19827	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.53	-1.25	0.09405	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.38558	0.1045	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.44877	0.845;0.845;0.845;0.814	P;P;P;B	0.44394	0.448;0.448;0.448;0.32	T	0.24584	-1.0156	9	0.46703	T	0.11	.	2.3556	0.04294	0.2562:0.0:0.3132:0.4307	.	81;53;53;53	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	53;53;53;81;53	ENSP00000329568:K53T;ENSP00000409137:K53T;ENSP00000339491:K53T;ENSP00000414273:K81T	ENSP00000329568:K53T	K	-	2	0	NLRP7	60144734	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.433000	0.21477	-0.411000	0.07530	0.260000	0.18958	AAA		0.443	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP9	338321	broad.mit.edu	37	19	56241243	56241243	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56241243G>T	ENST00000332836.2	-	3	1975	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	650						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L650I(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)		GCTTTGCAAAGAATCGCCAGG	0.438																																					p.L650I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1948A	19						.						90.0	89.0	89.0					19																	56241243		2203	4300	6503	60933055	SO:0001583	missense	338321	exon3			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.1948C>A	19.37:g.56241243G>T	ENSP00000331857:p.Leu650Ile		60933055	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	g	10.20	1.284803	0.23392	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.63744	-0.06	3.4	3.4	0.38934	.	.	.	.	.	T	0.70193	0.3196	M	0.82323	2.585	0.09310	N	1	P	0.44816	0.844	P	0.47705	0.555	T	0.63620	-0.6596	9	0.59425	D	0.04	.	10.6498	0.45642	0.0:0.0:1.0:0.0	.	650	Q7RTR0	NALP9_HUMAN	I	650	ENSP00000331857:L650I	ENSP00000331857:L650I	L	-	1	0	NLRP9	60933055	0.030000	0.19436	0.027000	0.17364	0.009000	0.06853	0.927000	0.28818	2.234000	0.73211	0.632000	0.83419	CTT		0.438	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP11	204801	broad.mit.edu	37	19	56297079	56297079	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56297079T>G	ENST00000589093.1	-	10	3107	c.3014A>C	c.(3013-3015)aAt>aCt	p.N1005T	NLRP11_ENST00000589824.2_Missense_Mutation_p.N951T|NLRP11_ENST00000443188.1_Missense_Mutation_p.N1005T|NLRP11_ENST00000592953.1_Missense_Mutation_p.N906T|NLRP11_ENST00000360133.3_Missense_Mutation_p.N951T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1005							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.N1005T(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)		CAAATTAGAATTAGGTATTAT	0.398																																					p.N1005T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3014C	19						.						95.0	93.0	93.0					19																	56297079		2203	4300	6503	60988891	SO:0001583	missense	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.3014A>C	19.37:g.56297079T>G	ENSP00000466285:p.Asn1005Thr		60988891	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	4.906	0.168408	0.09339	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74526	-0.85;-0.8	1.4	0.344	0.16006	.	.	.	.	.	T	0.49762	0.1576	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.971;0.983	B;B	0.42386	0.215;0.386	T	0.46693	-0.9173	9	0.59425	D	0.04	.	3.2203	0.06713	0.0:0.2494:0.0:0.7506	.	1005;951	P59045;P59045-2	NAL11_HUMAN;.	T	1005;951	ENSP00000409898:N1005T;ENSP00000353251:N951T	ENSP00000353251:N951T	N	-	2	0	NLRP11	60988891	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.282000	0.18829	0.050000	0.15949	0.533000	0.62120	AAT		0.398	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	broad.mit.edu	37	19	56370482	56370482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56370482G>T	ENST00000301295.6	+	3	2145	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E500*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E575*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	575					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.E575*(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)		CCTCCTCCAAGAAGCTAACTT	0.443																																					p.E575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1723T	19						.						79.0	74.0	76.0					19																	56370482		2203	4300	6503	61062294	SO:0001587	stop_gained	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.1723G>T	19.37:g.56370482G>T	ENSP00000301295:p.Glu575*		61062294	NM_134444	Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	38	7.237921	0.98157	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.0	0.498	0.16908	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	6.2033	0.20587	0.2021:0.1617:0.6362:0.0	.	.	.	.	X	575	.	ENSP00000301295:E575X	E	+	1	0	NLRP4	61062294	0.004000	0.15560	0.000000	0.03702	0.027000	0.11550	1.137000	0.31479	-0.123000	0.11745	-1.094000	0.02160	GAA		0.443	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ACSBG2	81616	broad.mit.edu	37	19	6182780	6182780	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:6182780C>A	ENST00000586696.1	+	9	1201	c.925C>A	c.(925-927)Cta>Ata	p.L309I	ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L309I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L309I|ACSBG2_ENST00000588304.1_Missense_Mutation_p.L259I|ACSBG2_ENST00000588485.1_Missense_Mutation_p.L122I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	309					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.L309I(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						GGTAAGTACTCTAAAGGAGGT	0.478																																					p.L309I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925A	19						.						69.0	60.0	63.0					19																	6182780		2203	4300	6503	6133780	SO:0001583	missense	81616	exon9				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.925C>A	19.37:g.6182780C>A	ENSP00000465589:p.Leu309Ile		6133780	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746575	0.49257	.	.	ENSG00000130377	ENST00000252669	T	0.38401	1.14	5.01	-3.16	0.05217	AMP-dependent synthetase/ligase (1);	0.000000	0.34291	N	0.004088	T	0.51736	0.1692	M	0.80332	2.49	0.20975	N	0.999818	D;D	0.64830	0.994;0.993	D;D	0.75484	0.986;0.951	T	0.43877	-0.9364	10	0.87932	D	0	-23.4973	6.7632	0.23552	0.1138:0.5013:0.0:0.3849	.	309;309	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	I	309	ENSP00000252669:L309I	ENSP00000252669:L309I	L	+	1	2	ACSBG2	6133780	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.025000	0.13577	-0.328000	0.08539	0.455000	0.32223	CTA		0.478	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP13	126204	broad.mit.edu	37	19	56422033	56422033	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56422033C>A	ENST00000342929.3	-	6	2177	c.2178G>T	c.(2176-2178)gaG>gaT	p.E726D	NLRP13_ENST00000588751.1_Missense_Mutation_p.E726D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	726							ATP binding (GO:0005524)	p.E726D(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)		CATGCAGATTCTCATTTGTGA	0.458																																					p.E726D												NLRP13,lung,NS,Substitution - Missense,-2	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2178T	19						.						198.0	171.0	180.0					19																	56422033		2203	4300	6503	61113845	SO:0001583	missense	126204	exon6			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.2178G>T	19.37:g.56422033C>A	ENSP00000343891:p.Glu726Asp		61113845	NM_176810	Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	7.348	0.622330	0.14193	.	.	ENSG00000173572	ENST00000342929	T	0.42131	0.98	2.8	-3.06	0.05379	.	.	.	.	.	T	0.21881	0.0527	L	0.33339	1.005	0.09310	N	1	B	0.25441	0.126	B	0.18263	0.021	T	0.26292	-1.0107	9	0.12766	T	0.61	.	3.459	0.07526	0.0:0.3862:0.2032:0.4106	.	726	Q86W25	NAL13_HUMAN	D	726	ENSP00000343891:E726D	ENSP00000343891:E726D	E	-	3	2	NLRP13	61113845	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.105000	0.03323	-0.657000	0.05373	-0.300000	0.09419	GAG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810	
ZNF583	147949	broad.mit.edu	37	19	56935168	56935168	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56935168G>A	ENST00000333201.9	+	5	1351	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	ZNF583_ENST00000291598.7_Missense_Mutation_p.E381K|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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.E381K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GAGACCCTACGAATGTAAGGA	0.413																																					p.E381K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141A	19						.						87.0	88.0	88.0					19																	56935168		2203	4300	6503	61626980	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1141G>A	19.37:g.56935168G>A	ENSP00000388502:p.Glu381Lys		61626980	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147337	0.37923	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.06608	3.28;3.28	4.33	-0.45	0.12223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.157085	0.29995	N	0.010670	T	0.03220	0.0094	N	0.03967	-0.31	0.09310	N	1	P	0.47191	0.891	P	0.49332	0.607	T	0.43114	-0.9411	9	.	.	.	.	4.2789	0.10822	0.3527:0.3129:0.3344:0.0	.	381	Q96ND8	ZN583_HUMAN	K	381	ENSP00000291598:E381K;ENSP00000388502:E381K	.	E	+	1	0	ZNF583	61626980	0.000000	0.05858	0.544000	0.28141	0.975000	0.68041	-1.296000	0.02762	0.172000	0.19760	0.462000	0.41574	GAA		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF583	147949	broad.mit.edu	37	19	56935646	56935646	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:56935646G>T	ENST00000333201.9	+	5	1829	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I	ZNF583_ENST00000291598.7_Missense_Mutation_p.R540I|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	540					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.R540I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CATCATGAGAGAATTCATact	0.418																																					p.R540I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1619T	19						.						95.0	90.0	92.0					19																	56935646		2203	4300	6503	61627458	SO:0001583	missense	147949	exon5			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1619G>T	19.37:g.56935646G>T	ENSP00000388502:p.Arg540Ile		61627458	NM_001159860	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811212	0.32053	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.10005	2.92;2.92	4.44	-1.09	0.09904	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.282809	0.25666	N	0.029106	T	0.03959	0.0111	N	0.08118	0	0.22034	N	0.999401	P	0.34892	0.474	B	0.35655	0.207	T	0.40289	-0.9571	9	.	.	.	.	4.1695	0.10322	0.4213:0.0:0.4253:0.1534	.	540	Q96ND8	ZN583_HUMAN	I	540	ENSP00000291598:R540I;ENSP00000388502:R540I	.	R	+	2	0	ZNF583	61627458	0.000000	0.05858	0.014000	0.15608	0.992000	0.81027	-0.980000	0.03770	-0.161000	0.10983	0.650000	0.86243	AGA		0.418	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478	
ZNF471	57573	broad.mit.edu	37	19	57036620	57036620	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57036620G>T	ENST00000308031.5	+	5	1317	c.1184G>T	c.(1183-1185)aGa>aTa	p.R395I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	395					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.R395I(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)		CTGCATAGGAGAATTCATACA	0.423																																					p.R395I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184T	19						.						83.0	86.0	85.0					19																	57036620		2203	4300	6503	61728432	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.1184G>T	19.37:g.57036620G>T	ENSP00000309161:p.Arg395Ile		61728432	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797872	0.50208	.	.	ENSG00000196263	ENST00000308031	T	0.24908	1.83	2.94	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45418	0.1341	L	0.61218	1.895	0.80722	D	1	D	0.63880	0.993	D	0.72075	0.976	T	0.45848	-0.9233	9	0.56958	D	0.05	.	12.7014	0.57035	0.0:0.0:1.0:0.0	.	395	Q9BX82	ZN471_HUMAN	I	395	ENSP00000309161:R395I	ENSP00000309161:R395I	R	+	2	0	ZNF471	61728432	.	.	1.000000	0.80357	0.737000	0.42083	.	.	1.485000	0.48380	0.462000	0.41574	AGA		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF471	57573	broad.mit.edu	37	19	57036956	57036956	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57036956G>T	ENST00000308031.5	+	5	1653	c.1520G>T	c.(1519-1521)aGa>aTa	p.R507I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	507					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.R507I(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)		ACTCATCAGAGAATTCATACT	0.378																																					p.R507I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1520T	19						.						62.0	66.0	65.0					19																	57036956		2203	4300	6503	61728768	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.1520G>T	19.37:g.57036956G>T	ENSP00000309161:p.Arg507Ile		61728768	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702367	0.48307	.	.	ENSG00000196263	ENST00000308031	T	0.24908	1.83	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28896	0.0717	L	0.28608	0.87	0.80722	D	1	D	0.67145	0.996	P	0.58873	0.847	T	0.04294	-1.0962	9	0.66056	D	0.02	.	6.299	0.21101	0.1375:0.0:0.8625:0.0	.	507	Q9BX82	ZN471_HUMAN	I	507	ENSP00000309161:R507I	ENSP00000309161:R507I	R	+	2	0	ZNF471	61728768	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	0.674000	0.25218	1.690000	0.51089	0.462000	0.41574	AGA		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	417					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.R417I(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CAGCATAAGAGAACTCATACT	0.418																																					p.R417I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1250T	19						.						82.0	84.0	83.0					19																	57089047		2203	4300	6503	61780859	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1250G>T	19.37:g.57089047G>T	ENSP00000333223:p.Arg417Ile		61780859	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011176	0.35511	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.02446	4.29;4.29	4.26	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.60012	1.86	0.36453	D	0.866185	P	0.39717	0.684	B	0.35510	0.204	T	0.45891	-0.9230	9	0.54805	T	0.06	.	6.2006	0.20573	0.0973:0.0:0.7151:0.1876	.	417	Q6ECI4	ZN470_HUMAN	I	417	ENSP00000375590:R417I;ENSP00000333223:R417I	ENSP00000333223:R417I	R	+	2	0	ZNF470	61780859	0.612000	0.27000	0.991000	0.47740	0.222000	0.24845	3.579000	0.53900	0.965000	0.38133	0.650000	0.86243	AGA		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
ZNF470	388566	broad.mit.edu	37	19	57089719	57089719	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57089719G>T	ENST00000330619.8	+	6	2608	c.1922G>T	c.(1921-1923)aGa>aTa	p.R641I	ZNF470_ENST00000391709.3_Missense_Mutation_p.R641I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	641					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.R641I(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGCATCAGAGAATTCATACA	0.398																																					p.R641I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1922T	19						.						79.0	76.0	77.0					19																	57089719		2203	4300	6503	61781531	SO:0001583	missense	388566	exon6			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1922G>T	19.37:g.57089719G>T	ENSP00000333223:p.Arg641Ile		61781531	NM_001001668	A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850213	0.51270	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.24908	1.83;1.83	4.24	1.97	0.26223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	M	0.81112	2.525	0.35346	D	0.786935	P	0.45672	0.864	B	0.42995	0.404	T	0.43798	-0.9369	9	0.62326	D	0.03	.	1.6506	0.02771	0.1823:0.1701:0.4729:0.1748	.	641	Q6ECI4	ZN470_HUMAN	I	641	ENSP00000375590:R641I;ENSP00000333223:R641I	ENSP00000333223:R641I	R	+	2	0	ZNF470	61781531	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.046000	0.14035	0.974000	0.38366	0.561000	0.74099	AGA		0.398	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668	
PEG3	5178	broad.mit.edu	37	19	57327215	57327215	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57327215G>T	ENST00000326441.9	-	10	2958	c.2595C>A	c.(2593-2595)atC>atA	p.I865I	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.I739I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.I741I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.I865I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	865					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.I865I(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)		TAAGGTCTGAGATATAAATGG	0.433																																					p.I865I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2595A	19						.						103.0	98.0	100.0					19																	57327215		2203	4300	6503	62019027	SO:0001819	synonymous_variant	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.2595C>A	19.37:g.57327215G>T			62019027	NM_001146186	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.433	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
USP29	57663	broad.mit.edu	37	19	57641759	57641759	+	Missense_Mutation	SNP	G	G	T	rs527678550	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57641759G>T	ENST00000254181.4	+	4	2170	c.1716G>T	c.(1714-1716)gaG>gaT	p.E572D	USP29_ENST00000598197.1_Missense_Mutation_p.E572D	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	572	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.E572D(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)		TGATTTCTGAGATCAACAGCC	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		19848	0.0		0.0	False		,,,				2504	0.002				p.E572D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1716T	19						.						89.0	92.0	91.0					19																	57641759		2203	4300	6503	62333571	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.1716G>T	19.37:g.57641759G>T	ENSP00000254181:p.Glu572Asp		62333571	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239571	0.22711	.	.	ENSG00000131864	ENST00000254181	T	0.50813	0.73	2.52	1.48	0.22813	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.141710	0.06980	U	0.819757	T	0.57446	0.2054	L	0.54323	1.7	0.09310	N	1	D	0.64830	0.994	D	0.64506	0.926	T	0.40869	-0.9540	10	0.36615	T	0.2	-1.8874	5.068	0.14592	0.1703:0.0:0.8297:0.0	.	572	Q9HBJ7	UBP29_HUMAN	D	572	ENSP00000254181:E572D	ENSP00000254181:E572D	E	+	3	2	USP29	62333571	0.001000	0.12720	0.012000	0.15200	0.014000	0.08584	0.234000	0.17930	0.590000	0.29694	0.467000	0.42956	GAG		0.468	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
USP29	57663	broad.mit.edu	37	19	57642793	57642793	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57642793C>A	ENST00000254181.4	+	4	3204	c.2750C>A	c.(2749-2751)tCt>tAt	p.S917Y	U3_ENST00000516874.1_RNA|USP29_ENST00000598197.1_Missense_Mutation_p.S917Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	917					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S917Y(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)		GAAGGTGACTCTTTGTACAGA	0.483																																					p.S917Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2750A	19						.						71.0	80.0	77.0					19																	57642793		2200	4300	6500	62334605	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.2750C>A	19.37:g.57642793C>A	ENSP00000254181:p.Ser917Tyr		62334605	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	1.629	-0.519391	0.04171	.	.	ENSG00000131864	ENST00000254181	T	0.51574	0.7	1.73	-1.76	0.08006	.	.	.	.	.	T	0.23014	0.0556	N	0.08118	0	0.09310	N	1	P	0.40638	0.725	B	0.37833	0.259	T	0.14392	-1.0474	9	0.87932	D	0	.	5.0034	0.14275	0.0:0.4381:0.0:0.5619	.	917	Q9HBJ7	UBP29_HUMAN	Y	917	ENSP00000254181:S917Y	ENSP00000254181:S917Y	S	+	2	0	USP29	62334605	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.472000	0.06881	-0.469000	0.05056	TCT		0.483	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZIM3	114026	broad.mit.edu	37	19	57647398	57647398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57647398C>A	ENST00000269834.1	-	5	692	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	103					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.E103*(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)		GATGGGACTTCTCTTGCGAGA	0.398																																					p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	19						.						180.0	176.0	177.0					19																	57647398		2203	4300	6503	62339210	SO:0001587	stop_gained	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.307G>T	19.37:g.57647398C>A	ENSP00000269834:p.Glu103*		62339210	NM_052882	Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822222	0.90873	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.18	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	8.8171	0.35002	0.0:0.7652:0.2348:0.0	.	.	.	.	X	103	.	ENSP00000269834:E103X	E	-	1	0	ZIM3	62339210	0.001000	0.12720	0.002000	0.10522	0.116000	0.19942	0.725000	0.25970	0.479000	0.27511	-0.676000	0.03789	GAA		0.398	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ZNF547	284306	broad.mit.edu	37	19	57883210	57883210	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57883210G>A	ENST00000282282.3	+	3	235	c.85G>A	c.(85-87)Gat>Aat	p.D29N	AC003002.4_ENST00000597658.1_Missense_Mutation_p.D29N	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	29	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.D29N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGGCATCTCGATGAGGCTCA	0.498																																					p.D29N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	19						.						369.0	337.0	348.0					19																	57883210		2203	4300	6503	62575022	SO:0001583	missense	284306	exon3			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.85G>A	19.37:g.57883210G>A	ENSP00000282282:p.Asp29Asn		62575022	NM_173631	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726801	0.48833	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.02525	4.26	2.01	0.958	0.19619	Krueppel-associated box (4);	.	.	.	.	T	0.03348	0.0097	M	0.75615	2.305	0.09310	N	1	P;B	0.50710	0.938;0.011	B;B	0.34873	0.191;0.006	T	0.42292	-0.9460	9	0.49607	T	0.09	.	4.2858	0.10855	0.2049:0.0:0.7951:0.0	.	29;29	Q8IVP9-2;Q8IVP9	.;ZN547_HUMAN	N	29	ENSP00000282282:D29N	ENSP00000282282:D29N	D	+	1	0	ZNF547	62575022	0.648000	0.27313	0.055000	0.19348	0.967000	0.64934	1.692000	0.37731	0.407000	0.25591	0.561000	0.74099	GAT		0.498	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631	
ZNF749	388567	broad.mit.edu	37	19	57956327	57956327	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:57956327G>T	ENST00000334181.4	+	3	2061	c.1811G>T	c.(1810-1812)aGa>aTa	p.R604I	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	604					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.R517I(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		ATTCATCAGAGAATTCACACT	0.393																																					p.R604I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1811T	19						.						64.0	69.0	68.0					19																	57956327		2203	4300	6503	62648139	SO:0001583	missense	388567	exon3			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1811G>T	19.37:g.57956327G>T	ENSP00000333980:p.Arg604Ile		62648139	NM_001023561		Missense_Mutation	SNP	ENST00000334181.4	37	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347979	0.61183	.	.	ENSG00000186230	ENST00000334181	T	0.24908	1.83	2.36	-1.68	0.08212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.61387	1.9	0.09310	N	1	D	0.56521	0.976	P	0.49528	0.614	T	0.15292	-1.0442	9	0.59425	D	0.04	.	3.6848	0.08324	0.3492:0.0:0.4811:0.1697	.	604	O43361	ZN749_HUMAN	I	604	ENSP00000333980:R604I	ENSP00000333980:R604I	R	+	2	0	ZNF749	62648139	0.000000	0.05858	0.000000	0.03702	0.783000	0.44284	-0.730000	0.04915	-0.443000	0.07180	0.313000	0.20887	AGA		0.393	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561	
ZIK1	284307	broad.mit.edu	37	19	58102275	58102275	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58102275C>A	ENST00000597850.1	+	4	1311	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	ZIK1_ENST00000536878.2_Missense_Mutation_p.L353I|ZIK1_ENST00000599456.1_Missense_Mutation_p.L311I|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L366I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGTGCCATTCTTAATCAACA	0.428																																					p.L366I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1096A	19						.						73.0	72.0	72.0					19																	58102275		2203	4300	6503	62794087	SO:0001583	missense	284307	exon4			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.1096C>A	19.37:g.58102275C>A	ENSP00000472867:p.Leu366Ile		62794087	NM_001010879	O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932450	0.52866	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.53857	0.6	3.37	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74520	0.3727	M	0.90019	3.08	0.19575	N	0.999961	D;D	0.76494	0.999;0.999	D;D	0.91635	0.992;0.999	T	0.62728	-0.6793	9	0.87932	D	0	.	8.7183	0.34425	0.0:0.884:0.0:0.116	.	353;366	F5H435;Q3SY52	.;ZIK1_HUMAN	I	353;319;366	ENSP00000438487:L353I	ENSP00000303820:L366I	L	+	1	0	ZIK1	62794087	0.007000	0.16637	0.014000	0.15608	0.968000	0.65278	0.121000	0.15667	1.881000	0.54492	0.655000	0.94253	CTT		0.428	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879	
ZNF530	348327	broad.mit.edu	37	19	58117315	58117315	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58117315A>G	ENST00000332854.6	+	3	642	c.422A>G	c.(421-423)aAt>aGt	p.N141S	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	141					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.N141S(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)		AAGCTTGATAATGGAGAGAAG	0.488																																					p.N141S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A422G	19						.						53.0	55.0	54.0					19																	58117315		2203	4300	6503	62809127	SO:0001583	missense	348327	exon3			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.422A>G	19.37:g.58117315A>G	ENSP00000332861:p.Asn141Ser		62809127	NM_020880	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	A	1.285	-0.609231	0.03690	.	.	ENSG00000183647	ENST00000332854	T	0.04654	3.58	2.01	-3.07	0.05363	.	.	.	.	.	T	0.01661	0.0053	N	0.02802	-0.49	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.47636	-0.9102	9	0.19590	T	0.45	.	3.3452	0.07132	0.3095:0.3062:0.3843:0.0	.	141	Q6P9A1	ZN530_HUMAN	S	141	ENSP00000332861:N141S	ENSP00000332861:N141S	N	+	2	0	ZNF530	62809127	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	-0.777000	0.04669	-0.493000	0.06678	-0.467000	0.05162	AAT		0.488	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZNF154	7710	broad.mit.edu	37	19	58213365	58213365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58213365C>A	ENST00000512439.2	-	3	1148	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Nonsense_Mutation_p.E318*|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E318*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTATGGTGTTCAATGAGGCTA	0.463																																					p.E318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G952T	19						.						94.0	94.0	94.0					19																	58213365		2201	4299	6500	62905177	SO:0001587	stop_gained	7710	exon3			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.952G>T	19.37:g.58213365C>A	ENSP00000421258:p.Glu318*		62905177	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Nonsense_Mutation	SNP	ENST00000512439.2	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831401	0.91036	.	.	ENSG00000179909	ENST00000512439;ENST00000426889;ENST00000396157	.	.	.	2.86	-5.71	0.02413	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	15.4957	0.75646	0.0:0.1411:0.7694:0.0895	.	.	.	.	X	318;318;133	.	ENSP00000440907:E133X	E	-	1	0	ZNF154	62905177	0.000000	0.05858	0.000000	0.03702	0.949000	0.60115	-10.123000	0.00007	-2.122000	0.00824	0.462000	0.41574	GAA		0.463	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF671	79891	broad.mit.edu	37	19	58231911	58231911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58231911C>A	ENST00000317398.6	-	4	1638	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_5'Flank|ZNF671_ENST00000335820.3_Nonsense_Mutation_p.E417*	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	515					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.E515*(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		CGGATGAATTCTCTCCCGCAC	0.502																																					p.E515X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1543T	19						.						210.0	208.0	209.0					19																	58231911		2203	4300	6503	62923723	SO:0001587	stop_gained	79891	exon4				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1543G>T	19.37:g.58231911C>A	ENSP00000321848:p.Glu515*		62923723	NM_024833	A6NF07|Q9H5E9	Nonsense_Mutation	SNP	ENST00000317398.6	37	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376440	0.95945	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	.	.	.	1.88	-3.76	0.04359	.	.	.	.	.	.	.	.	.	.	.	0.37728	D	0.925184	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.4745	0.27368	0.5273:0.4727:0.0:0.0	.	.	.	.	X	515;417	.	ENSP00000321848:E515X	E	-	1	0	ZNF671	62923723	0.000000	0.05858	0.001000	0.08648	0.689000	0.40095	-2.320000	0.01119	-0.780000	0.04553	0.467000	0.42956	GAA		0.502	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833	
ZNF544	27300	broad.mit.edu	37	19	58772549	58772549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58772549G>T	ENST00000596652.1	+	6	811	c.577G>T	c.(577-579)Gag>Tag	p.E193*	ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.E165*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.E165*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.E193*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.E51*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.E165*			Q6NX49	ZN544_HUMAN	zinc finger protein 544	193					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.E193*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACAAGTTAAAGAGTTGAAACA	0.403																																					p.E193X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G577T	19						.						62.0	58.0	60.0					19																	58772549		2203	4299	6502	63464361	SO:0001587	stop_gained	27300	exon7			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.577G>T	19.37:g.58772549G>T	ENSP00000469635:p.Glu193*		63464361	NM_014480	A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	ENST00000596652.1	37	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116090	0.94339	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	.	.	.	3.27	-3.12	0.05282	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.4275	0.16433	0.3165:0.1829:0.5006:0.0	.	.	.	.	X	193;165	.	ENSP00000269829:E193X	E	+	1	0	ZNF544	63464361	0.083000	0.21467	0.000000	0.03702	0.002000	0.02628	0.269000	0.18589	-0.628000	0.05582	-0.819000	0.03115	GAG		0.403	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
ZNF584	201514	broad.mit.edu	37	19	58928205	58928205	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:58928205G>A	ENST00000306910.4	+	4	843	c.320G>A	c.(319-321)aGa>aAa	p.R107K	ZNF584_ENST00000593920.1_Missense_Mutation_p.R62K|ZNF584_ENST00000596921.1_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000322834.7_Missense_Mutation_p.E140K	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	107					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.R107K(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAGGATGAGAGAGCCCATCCT	0.483																																					p.R107K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G320A	19						.						67.0	57.0	60.0					19																	58928205		2203	4300	6503	63620017	SO:0001583	missense	201514	exon4			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.320G>A	19.37:g.58928205G>A	ENSP00000306756:p.Arg107Lys		63620017	NM_173548	A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	CCDS12979.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.582513|1.582513	0.28180|0.28180	.|.	.|.	ENSG00000171574|ENSG00000171574	ENST00000322834|ENST00000306910	T|T	0.01369|0.05580	4.97|3.42	2.75|2.75	0.543|0.543	0.17179|0.17179	.|.	.|.	.|.	.|.	.|.	T|T	0.03011|0.03011	0.0089|0.0089	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.10296|0.02656	0.003|0.0	B|B	0.06405|0.01281	0.002|0.0	T|T	0.44205|0.44205	-0.9343|-0.9343	8|9	.|0.37606	.|T	.|0.19	.|.	4.3915|4.3915	0.11343|0.11343	0.6026:0.0:0.3974:0.0|0.6026:0.0:0.3974:0.0	.|.	140|107	F6W0P0|Q8IVC4	.|ZN584_HUMAN	K|K	140|107	ENSP00000320731:E140K|ENSP00000306756:R107K	.|ENSP00000306756:R107K	E|R	+|+	1|2	0|0	ZNF584|ZNF584	63620017|63620017	0.367000|0.367000	0.25023|0.25023	0.005000|0.005000	0.12908|0.12908	0.016000|0.016000	0.09150|0.09150	0.427000|0.427000	0.21379|0.21379	0.068000|0.068000	0.16574|0.16574	-0.471000|-0.471000	0.05019|0.05019	GAG|AGA		0.483	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548	
FBN3	84467	broad.mit.edu	37	19	8183824	8183824	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:8183824A>G	ENST00000600128.1	-	26	3708	c.3294T>C	c.(3292-3294)tgT>tgC	p.C1098C	FBN3_ENST00000270509.2_Silent_p.C1098C|FBN3_ENST00000601739.1_Silent_p.C1098C			Q75N90	FBN3_HUMAN	fibrillin 3	1098	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1098C(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						GCCCAGGGGGACACTGGCACT	0.587																																					p.C1098C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3294C	19						.						160.0	117.0	131.0					19																	8183824		2203	4300	6503	8089824	SO:0001819	synonymous_variant	84467	exon25				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.3294T>C	19.37:g.8183824A>G			8089824	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
PRAM1	84106	broad.mit.edu	37	19	8563890	8563890	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:8563890C>T	ENST00000423345.4	-	2	1322	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A268T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	316	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.A268T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TTGGGAAAGGCGCTGGAGTCG	0.642																																					p.A268T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G802A	19						.						37.0	41.0	40.0					19																	8563890		2188	4287	6475	8469890	SO:0001583	missense	84106	exon2			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.802G>A	19.37:g.8563890C>T	ENSP00000408342:p.Ala268Thr		8469890	NM_032152	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	4.798	0.148302	0.09134	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16457	2.34;2.34	3.73	-7.45	0.01374	.	1.283650	0.05976	N	0.643324	T	0.04634	0.0126	N	0.01576	-0.805	0.09310	N	1	B;B	0.24963	0.03;0.115	B;B	0.12156	0.005;0.007	T	0.40813	-0.9543	10	0.21014	T	0.42	.	8.0552	0.30602	0.0:0.1214:0.2274:0.6512	.	268;316	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	268	ENSP00000255612:A268T;ENSP00000408342:A268T	ENSP00000255612:A268T	A	-	1	0	PRAM1	8469890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.672000	0.05244	-2.019000	0.00942	-0.218000	0.12543	GCC		0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152	
MUC16	94025	broad.mit.edu	37	19	9048443	9048443	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9048443G>T	ENST00000397910.4	-	5	33391	c.33188C>A	c.(33187-33189)tCt>tAt	p.S11063Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11065	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S11063Y(1)|p.S6696Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCACCAGGAGAAAGAATCAG	0.488																																					p.S11063Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C33188A	19						.						85.0	77.0	80.0					19																	9048443		1896	4124	6020	8909443	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33188C>A	19.37:g.9048443G>T	ENSP00000381008:p.Ser11063Tyr		8909443	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.351	0.432881	0.12045	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.05	1.98	0.26296	.	.	.	.	.	T	0.04227	0.0117	L	0.55481	1.735	.	.	.	P	0.40332	0.713	B	0.40410	0.328	T	0.14504	-1.0470	8	0.87932	D	0	.	7.6016	0.28079	0.0:0.0:0.7483:0.2517	.	11063	B5ME49	.	Y	11063	ENSP00000381008:S11063Y	ENSP00000381008:S11063Y	S	-	2	0	MUC16	8909443	0.000000	0.05858	0.001000	0.08648	0.158000	0.22134	0.100000	0.15231	0.803000	0.34113	0.431000	0.28591	TCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9050212	9050212	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9050212C>A	ENST00000397910.4	-	5	31622	c.31419G>T	c.(31417-31419)gaG>gaT	p.E10473D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E6106D(1)|p.E10473D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTGGTGGTCTCCATTCTTT	0.468																																					p.E10473D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G31419T	19						.						345.0	340.0	342.0					19																	9050212		2079	4206	6285	8911212	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31419G>T	19.37:g.9050212C>A	ENSP00000381008:p.Glu10473Asp		8911212	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.613375	0.28712	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	4.18	3.13	0.36017	.	.	.	.	.	T	0.04815	0.0130	L	0.40543	1.245	.	.	.	P	0.46142	0.873	P	0.47134	0.539	T	0.22173	-1.0224	8	0.87932	D	0	.	10.3616	0.43998	0.0:0.8025:0.1975:0.0	.	10473	B5ME49	.	D	10473	ENSP00000381008:E10473D	ENSP00000381008:E10473D	E	-	3	2	MUC16	8911212	0.021000	0.18746	0.803000	0.32268	0.035000	0.12851	0.054000	0.14205	1.332000	0.45431	0.580000	0.79431	GAG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9065503	9065503	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9065503A>G	ENST00000397910.4	-	3	22146	c.21943T>C	c.(21943-21945)Tcc>Ccc	p.S7315P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7317	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7315P(2)|p.S2948P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGATGGGGGAAGTAGGGAAC	0.448																																					p.S7315P												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T21943C	19						.						138.0	132.0	134.0					19																	9065503		1913	4110	6023	8926503	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21943T>C	19.37:g.9065503A>G	ENSP00000381008:p.Ser7315Pro		8926503	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	5.840	0.339144	0.11069	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.97	2.97	0.34412	.	.	.	.	.	T	0.07279	0.0184	L	0.32530	0.975	.	.	.	D	0.71674	0.998	D	0.77004	0.989	T	0.16689	-1.0394	8	0.87932	D	0	.	7.7229	0.28742	1.0:0.0:0.0:0.0	.	7315	B5ME49	.	P	7315	ENSP00000381008:S7315P	ENSP00000381008:S7315P	S	-	1	0	MUC16	8926503	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.201000	0.17276	1.598000	0.50083	0.317000	0.21355	TCC		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9073357	9073357	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9073357C>A	ENST00000397910.4	-	3	14292	c.14089G>T	c.(14089-14091)Gac>Tac	p.D4697Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D4697Y(2)|p.D330Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGATGTGTCTAAGGCAAGT	0.473																																					p.D4697Y												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G14089T	19						.						184.0	172.0	176.0					19																	9073357		1945	4149	6094	8934357	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14089G>T	19.37:g.9073357C>A	ENSP00000381008:p.Asp4697Tyr		8934357	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.409	0.443599	0.12164	.	.	ENSG00000181143	ENST00000397910	T	0.24350	1.86	1.8	-0.635	0.11512	.	.	.	.	.	T	0.25975	0.0633	L	0.39898	1.24	.	.	.	D	0.62365	0.991	P	0.54238	0.746	T	0.29058	-1.0024	8	0.87932	D	0	.	2.1919	0.03901	0.3045:0.4965:0.0:0.1991	.	4697	B5ME49	.	Y	4697	ENSP00000381008:D4697Y	ENSP00000381008:D4697Y	D	-	1	0	MUC16	8934357	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	0.167000	0.16602	-0.093000	0.12396	0.313000	0.20887	GAC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF560	147741	broad.mit.edu	37	19	9578100	9578100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9578100C>T	ENST00000301480.4	-	10	1736	c.1523G>A	c.(1522-1524)aGa>aAa	p.R508K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	508					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.R508K(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGTGTGAGTTCTCAAATGAGC	0.408																																					p.R508K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1523A	19						.						111.0	117.0	115.0					19																	9578100		2203	4300	6503	9439100	SO:0001583	missense	147741	exon10			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1523G>A	19.37:g.9578100C>T	ENSP00000301480:p.Arg508Lys		9439100	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298785	0.40694	.	.	ENSG00000198028	ENST00000301480	T	0.18338	2.22	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18800	0.0451	L	0.28115	0.83	0.20764	N	0.999853	D	0.58268	0.982	P	0.53518	0.728	T	0.12451	-1.0547	9	0.35671	T	0.21	.	10.1291	0.42667	0.0:1.0:0.0:0.0	.	508	Q96MR9	ZN560_HUMAN	K	508	ENSP00000301480:R508K	ENSP00000301480:R508K	R	-	2	0	ZNF560	9439100	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	-1.174000	0.03105	1.446000	0.47643	0.491000	0.48974	AGA		0.408	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF121	7675	broad.mit.edu	37	19	9677536	9677536	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9677536C>T	ENST00000586602.1	-	6	669	c.253G>A	c.(253-255)Gac>Aac	p.D85N	ZNF121_ENST00000320451.6_Missense_Mutation_p.D85N			P58317	ZN121_HUMAN	zinc finger protein 121	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D85N(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						AAGGATTTGTCTCCTATCCAC	0.448																																					p.D85N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	19						.						112.0	97.0	102.0					19																	9677536		2203	4300	6503	9538536	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.253G>A	19.37:g.9677536C>T	ENSP00000468643:p.Asp85Asn		9538536	NM_001008727		Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	C	9.828	1.187675	0.21870	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	T	0.15487	2.42	1.29	-1.2	0.09554	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.37561	1.115	0.09310	N	1	B	0.21147	0.052	B	0.18871	0.023	T	0.30119	-0.9989	9	0.87932	D	0	.	5.5037	0.16842	0.0:0.6357:0.0:0.3643	.	85	P58317	ZN121_HUMAN	N	85	ENSP00000326967:D85N	ENSP00000326967:D85N	D	-	1	0	ZNF121	9538536	0.037000	0.19845	0.000000	0.03702	0.024000	0.10985	1.512000	0.35812	-0.279000	0.09167	0.484000	0.47621	GAC		0.448	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727	
ZNF846	162993	broad.mit.edu	37	19	9868848	9868848	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:9868848C>A	ENST00000397902.2	-	6	1318	c.905G>T	c.(904-906)aGa>aTa	p.R302I	ZNF846_ENST00000592859.1_Missense_Mutation_p.R173I|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.R173I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	302					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.R302I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTGTGGATTCTTGTATGATC	0.388																																					p.R302I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905T	19						.						68.0	71.0	70.0					19																	9868848		2102	4245	6347	9729848	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.905G>T	19.37:g.9868848C>A	ENSP00000380999:p.Arg302Ile		9729848	NM_001077624	A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.042914	0.75732	.	.	ENSG00000196605	ENST00000397902	T	0.24908	1.83	1.91	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33294	0.0858	L	0.53561	1.675	0.33168	D	0.547947	D	0.63046	0.992	P	0.53689	0.732	T	0.47849	-0.9085	8	.	.	.	.	9.9091	0.41394	0.0:1.0:0.0:0.0	.	302	Q147U1	ZN846_HUMAN	I	302	ENSP00000380999:R302I	.	R	-	2	0	ZNF846	9729848	0.000000	0.05858	0.010000	0.14722	0.762000	0.43233	-0.009000	0.12765	1.397000	0.46682	0.456000	0.33151	AGA		0.388	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624	
MZF1	7593	broad.mit.edu	37	19	59080942	59080942	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr19:59080942A>C	ENST00000215057.2	-	4	1152	c.592T>G	c.(592-594)Tct>Gct	p.S198A	MZF1_ENST00000594234.1_Missense_Mutation_p.S198A|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.S198A|MZF1_ENST00000594108.1_Missense_Mutation_p.S198A|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	198					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S198A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AGAGGCCCAGACTCCAGGAAA	0.582																																					p.S198A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T592G	19						.						46.0	46.0	46.0					19																	59080942		2203	4300	6503	63772754	SO:0001583	missense	7593	exon4			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.592T>G	19.37:g.59080942A>C	ENSP00000215057:p.Ser198Ala		63772754	NM_198055	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.492	0.650821	0.14516	.	.	ENSG00000099326	ENST00000215057	T	0.06371	3.31	4.11	0.786	0.18590	.	0.386006	0.19212	N	0.119907	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B;B	0.32918	0.39;0.075	B;B	0.21917	0.037;0.027	T	0.45877	-0.9231	9	.	.	.	-8.1177	3.778	0.08668	0.6486:0.0:0.1904:0.161	.	198;198	Q7Z729;P28698	.;MZF1_HUMAN	A	198	ENSP00000215057:S198A	.	S	-	1	0	MZF1	63772754	0.089000	0.21612	0.002000	0.10522	0.210000	0.24377	0.199000	0.17237	0.046000	0.15833	0.375000	0.23000	TCT		0.582	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055	
SNX31	169166	broad.mit.edu	37	8	101608977	101608977	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:101608977G>T	ENST00000311812.2	-	10	1018	c.868C>A	c.(868-870)Ctt>Att	p.L290I	SNX31_ENST00000428383.2_Missense_Mutation_p.L191I|SNX31_ENST00000519521.1_5'Flank	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	290					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)	p.L290I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CCAACAGAAAGAACAGCTCCA	0.547																																					p.L290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868A	8						.						136.0	136.0	136.0					8																	101608977		2203	4300	6503	101678153	SO:0001583	missense	169166	exon10				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.868C>A	8.37:g.101608977G>T	ENSP00000312368:p.Leu290Ile		101678153	NM_152628	C9J6L9|Q8N0U9	Missense_Mutation	SNP	ENST00000311812.2	37	CCDS6288.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.916301	0.00503	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.22539	2.3;1.95	4.54	0.367	0.16140	.	0.619023	0.13666	N	0.371250	T	0.11879	0.0289	L	0.41573	1.285	0.09310	N	1	B;B	0.20671	0.047;0.007	B;B	0.19946	0.027;0.007	T	0.35699	-0.9778	10	0.09843	T	0.71	-1.9517	2.4047	0.04410	0.0956:0.3418:0.2317:0.331	.	191;290	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	I	290;191	ENSP00000312368:L290I;ENSP00000405024:L191I	ENSP00000312368:L290I	L	-	1	0	SNX31	101678153	0.176000	0.23096	0.002000	0.10522	0.060000	0.15804	0.599000	0.24089	0.170000	0.19704	0.557000	0.71058	CTT		0.547	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628	
PRSS55	203074	broad.mit.edu	37	8	10387032	10387032	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:10387032C>A	ENST00000328655.3	+	2	210	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	PRSS55_ENST00000522210.1_Missense_Mutation_p.S57Y|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	57						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S57Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGTGACAGATCTATTTTCGAG	0.527																																					p.S57Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C170A	8						.						130.0	132.0	132.0					8																	10387032		2203	4300	6503	10424442	SO:0001583	missense	203074	exon2			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.170C>A	8.37:g.10387032C>A	ENSP00000333003:p.Ser57Tyr		10424442	NM_001197020	E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053838	0.36277	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89196	-2.48;-2.45	3.96	3.96	0.45880	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.83271	0.5218	L	0.36672	1.1	0.28930	N	0.891633	B	0.24651	0.108	B	0.09377	0.004	T	0.78826	-0.2051	9	0.87932	D	0	.	11.797	0.52106	0.0:1.0:0.0:0.0	.	57	Q6UWB4	PRS55_HUMAN	Y	57	ENSP00000333003:S57Y;ENSP00000430459:S57Y	ENSP00000333003:S57Y	S	+	2	0	PRSS55	10424442	0.929000	0.31497	0.911000	0.35937	0.002000	0.02628	1.994000	0.40757	2.480000	0.83734	0.491000	0.48974	TCT		0.527	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
ODF1	4956	broad.mit.edu	37	8	103564262	103564262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:103564262C>T	ENST00000285402.3	+	1	463	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.R103*(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)			AGATGAGAAGCGAGAGCTTGC	0.363																																					p.R103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C307T	8						.						84.0	80.0	81.0					8																	103564262		2203	4300	6503	103633438	SO:0001587	stop_gained	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.307C>T	8.37:g.103564262C>T	ENSP00000285402:p.Arg103*		103633438	NM_024410	Q3SX72	Nonsense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	37	6.467073	0.97590	.	.	ENSG00000155087	ENST00000285402	.	.	.	5.56	3.14	0.36123	.	0.125800	0.36409	N	0.002607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1263	10.104	0.42521	0.6068:0.3932:0.0:0.0	.	.	.	.	X	103	.	ENSP00000285402:R103X	R	+	1	2	ODF1	103633438	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.332000	0.33805	0.364000	0.24374	-0.274000	0.10170	CGA		0.363	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
TRHR	7201	broad.mit.edu	37	8	110100517	110100517	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:110100517C>T	ENST00000518632.1	+	2	1127	c.776C>T	c.(775-777)tCt>tTt	p.S259F	TRHR_ENST00000311762.2_Missense_Mutation_p.S259F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	259					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.S259F(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)			AGCACAGTATCTTCAAGGAAG	0.378																																					p.S259F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C776T	8						.						31.0	31.0	31.0					8																	110100517		2202	4295	6497	110169693	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.776C>T	8.37:g.110100517C>T	ENSP00000430711:p.Ser259Phe		110169693	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787406	0.31593	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.39056	1.1;1.1	5.88	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.262093	0.43747	D	0.000521	T	0.50803	0.1637	M	0.84511	2.7	0.26921	N	0.966687	B	0.21606	0.058	B	0.24394	0.053	T	0.52946	-0.8507	10	0.66056	D	0.02	-7.9521	14.6214	0.68588	0.0:0.7232:0.2768:0.0	.	259	P34981	TRFR_HUMAN	F	259	ENSP00000430711:S259F;ENSP00000309818:S259F	ENSP00000309818:S259F	S	+	2	0	TRHR	110169693	1.000000	0.71417	0.781000	0.31783	0.989000	0.77384	7.481000	0.81124	1.476000	0.48215	0.655000	0.94253	TCT		0.378	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
DEFB136	613210	broad.mit.edu	37	8	11831560	11831560	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:11831560G>T	ENST00000382209.2	-	2	122	c.123C>A	c.(121-123)ttC>ttA	p.F41L		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.F41L(1)		endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GACACCCGAAGAAACATACGG	0.468																																					p.F41L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C123A	8						.						170.0	175.0	174.0					8																	11831560		2001	4178	6179	11868969	SO:0001583	missense	613210	exon2			DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"""Defensins, beta"""	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.123C>A	8.37:g.11831560G>T	ENSP00000371644:p.Phe41Leu		11868969	NM_001033018	Q4QY36	Missense_Mutation	SNP	ENST00000382209.2	37	CCDS43709.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107744	0.37242	.	.	ENSG00000205884	ENST00000382209	T	0.15017	2.46	4.06	2.28	0.28536	.	0.261006	0.27891	N	0.017435	T	0.30634	0.0771	.	.	.	0.28338	N	0.921492	D	0.60160	0.987	P	0.61477	0.889	T	0.06303	-1.0834	9	0.87932	D	0	-0.686	6.4987	0.22155	0.219:0.0:0.781:0.0	.	41	Q30KP8	DB136_HUMAN	L	41	ENSP00000371644:F41L	ENSP00000371644:F41L	F	-	3	2	DEFB136	11868969	0.975000	0.34042	0.957000	0.39632	0.007000	0.05969	0.553000	0.23391	0.682000	0.31407	-0.266000	0.10368	TTC		0.468	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351889.1	NM_001033018	
CSMD3	114788	broad.mit.edu	37	8	113649183	113649183	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:113649183C>T	ENST00000297405.5	-	22	3822	c.3578G>A	c.(3577-3579)cGa>cAa	p.R1193Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R1153Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1089Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1193Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1193	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1193Q(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						GAACCCGATTCGACTACCATA	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.R1193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3578A	8						.						204.0	175.0	185.0					8																	113649183		2203	4300	6503	113718359	SO:0001583	missense	114788	exon22			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.3578G>A	8.37:g.113649183C>T	ENSP00000297405:p.Arg1193Gln		113718359	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341868	0.95783	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.56	5.56	0.83823	Complement control module (2);Sushi/SCR/CCP (3);	0.222920	0.27206	N	0.020439	T	0.50922	0.1644	M	0.67953	2.075	0.40049	D	0.975756	D;D;D	0.89917	0.967;0.973;1.0	P;P;D	0.87578	0.783;0.764;0.998	T	0.36648	-0.9739	10	0.28530	T	0.3	.	19.5386	0.95266	0.0:1.0:0.0:0.0	.	1089;1193;1153	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	1153;1193;533;1089;1193	ENSP00000345799:R1153Q;ENSP00000297405:R1193Q;ENSP00000341558:R533Q;ENSP00000412263:R1089Q;ENSP00000343124:R1193Q	ENSP00000297405:R1193Q	R	-	2	0	CSMD3	113718359	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.913000	0.63341	2.610000	0.88304	0.650000	0.86243	CGA		0.458	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TAF2	6873	broad.mit.edu	37	8	120814213	120814213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:120814213C>A	ENST00000378164.2	-	6	911	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	205					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E205*(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGTAAATTCTAATTTCCAT	0.338																																					p.E205X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G613T	8						.						86.0	78.0	81.0					8																	120814213		2203	4300	6503	120883394	SO:0001587	stop_gained	6873	exon6			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.613G>T	8.37:g.120814213C>A	ENSP00000367406:p.Glu205*		120883394	NM_003184	B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	40	8.485828	0.98832	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-20.17	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	205	.	ENSP00000367406:E205X	E	-	1	0	TAF2	120883394	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.776000	0.85560	2.783000	0.95769	0.655000	0.94253	GAA		0.338	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	
COL14A1	7373	broad.mit.edu	37	8	121215985	121215985	+	Silent	SNP	C	C	A	rs369585103		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:121215985C>A	ENST00000297848.3	+	9	1185	c.915C>A	c.(913-915)atC>atA	p.I305I	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.I305I|COL14A1_ENST00000247781.3_Silent_p.I210I|COL14A1_ENST00000537875.1_Silent_p.I305I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.I305I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCAGGAGATCGCCTCTGAAC	0.498																																					p.I305I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915A	8						.						139.0	119.0	126.0					8																	121215985		2203	4300	6503	121285166	SO:0001819	synonymous_variant	7373	exon9				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.915C>A	8.37:g.121215985C>A			121285166	NM_021110		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	9.207	1.029978	0.19512	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.09	-0.335	0.12662	.	.	.	.	.	T	0.50497	0.1619	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38243	-0.9670	4	.	.	.	.	5.1785	0.15148	0.134:0.4381:0.0:0.4279	.	.	.	.	S	62	.	.	R	+	1	0	COL14A1	121285166	0.206000	0.23470	0.998000	0.56505	0.853000	0.48598	-0.428000	0.06991	0.032000	0.15435	0.561000	0.74099	CGC		0.498	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
COL14A1	7373	broad.mit.edu	37	8	121344960	121344960	+	Missense_Mutation	SNP	G	G	A	rs370064596		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:121344960G>A	ENST00000297848.3	+	42	5041	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.A1591T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507																																					p.A1591T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4771A	8						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	97.0	88.0	91.0		4771	4.6	1.0	8		91	0,8600		0,0,4300	no	missense	COL14A1	NM_021110.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1591/1797	121344960	1,13005	2203	4300	6503	121414141	SO:0001583	missense	7373	exon42				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4771G>A	8.37:g.121344960G>A	ENSP00000297848:p.Ala1591Thr		121414141	NM_021110		Missense_Mutation	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022215	0.35701	2.27E-4	0.0	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.94376	-3.41;-3.41;-3.41	5.52	4.59	0.56863	.	0.322526	0.36167	N	0.002741	D	0.88987	0.6587	L	0.42632	1.34	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.83170	-0.0094	10	0.16896	T	0.51	.	12.072	0.53622	0.0:0.0:0.7867:0.2133	.	1591	Q05707	COEA1_HUMAN	T	1591;1591;1496	ENSP00000311809:A1591T;ENSP00000297848:A1591T;ENSP00000247781:A1496T	ENSP00000247781:A1496T	A	+	1	0	COL14A1	121414141	0.998000	0.40836	0.993000	0.49108	0.321000	0.28281	3.176000	0.50863	1.153000	0.42468	0.561000	0.74099	GCC		0.507	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
MRPL13	28998	broad.mit.edu	37	8	121437583	121437583	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:121437583A>C	ENST00000306185.3	-	4	560	c.269T>G	c.(268-270)gTa>gGa	p.V90G		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	90					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.V90G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCAGCTGTTACTTGTCTAAA	0.363																																					p.V90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T269G	8						.						110.0	117.0	115.0					8																	121437583		2203	4300	6503	121506764	SO:0001583	missense	28998	exon4			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.269T>G	8.37:g.121437583A>C	ENSP00000306548:p.Val90Gly		121506764	NM_014078	B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	37	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414198	0.42817	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.26	4.08	0.47627	Ribosomal protein L13 domain (2);	0.000000	0.85682	D	0.000000	T	0.76969	0.4062	M	0.87617	2.895	0.80722	D	1	P	0.35077	0.483	P	0.46237	0.508	T	0.76796	-0.2827	9	0.48119	T	0.1	-2.9629	11.6099	0.51053	0.8504:0.1496:0.0:0.0	.	90	Q9BYD1	RM13_HUMAN	G	90;66	.	ENSP00000306548:V90G	V	-	2	0	MRPL13	121506764	1.000000	0.71417	0.992000	0.48379	0.911000	0.54048	7.673000	0.83973	0.910000	0.36722	0.377000	0.23210	GTA		0.363	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078	
ANXA13	312	broad.mit.edu	37	8	124693578	124693578	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:124693578C>A	ENST00000419625.1	-	11	925	c.853G>T	c.(853-855)Gca>Tca	p.A285S	ANXA13_ENST00000262219.6_Missense_Mutation_p.A326S	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	285					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.A326S(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)			TGGAACTTTGCTTTGATCCCC	0.463																																					p.A285S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853T	8						.						170.0	178.0	175.0					8																	124693578		2203	4300	6503	124762759	SO:0001583	missense	312	exon11			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.853G>T	8.37:g.124693578C>A	ENSP00000390809:p.Ala285Ser		124762759	NM_004306	Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227658	0.39399	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03386	3.95;3.95	5.81	4.94	0.65067	Annexin repeat, conserved site (1);	0.185294	0.56097	D	0.000026	T	0.03434	0.0099	N	0.20530	0.585	0.30084	N	0.808957	P;P	0.38395	0.533;0.629	B;B	0.39706	0.197;0.307	T	0.34428	-0.9829	10	0.23891	T	0.37	.	11.8686	0.52507	0.0:0.9182:0.0:0.0818	.	285;326	P27216;P27216-2	ANX13_HUMAN;.	S	326;285	ENSP00000262219:A326S;ENSP00000390809:A285S	ENSP00000262219:A326S	A	-	1	0	ANXA13	124762759	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.523000	0.53488	1.452000	0.47756	0.655000	0.94253	GCA		0.463	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	
FER1L6	654463	broad.mit.edu	37	8	125033865	125033865	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:125033865G>A	ENST00000522917.1	+	17	2295	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E697K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	697						integral component of membrane (GO:0016021)		p.E697K(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)			AATGATTCACGAAGCCCAAAA	0.418																																					p.E697K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2089A	8						.						102.0	100.0	101.0					8																	125033865		1899	4112	6011	125103046	SO:0001583	missense	654463	exon17			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.2089G>A	8.37:g.125033865G>A	ENSP00000428280:p.Glu697Lys		125103046	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	0.838	-0.743016	0.03088	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81659	-1.52;-1.52	5.77	1.82	0.25136	.	0.715706	0.12788	U	0.439079	T	0.68016	0.2955	L	0.43152	1.355	0.24052	N	0.996044	B	0.14805	0.011	B	0.09377	0.004	T	0.48536	-0.9027	10	0.09084	T	0.74	.	7.1995	0.25873	0.2025:0.1235:0.6741:0.0	.	697	Q2WGJ9	FR1L6_HUMAN	K	697	ENSP00000428280:E697K;ENSP00000381982:E697K	ENSP00000381982:E697K	E	+	1	0	FER1L6	125103046	0.598000	0.26882	0.055000	0.19348	0.389000	0.30415	1.001000	0.29783	0.055000	0.16094	0.591000	0.81541	GAA		0.418	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125113491	125113491	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:125113491C>A	ENST00000522917.1	+	38	5243	c.5037C>A	c.(5035-5037)ttC>ttA	p.F1679L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F1679L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1679	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.F1679L(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)			AGAACATCTTCTCTTTAGAGA	0.498																																					p.F1679L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5037A	8						.						99.0	96.0	97.0					8																	125113491		2039	4238	6277	125182672	SO:0001583	missense	654463	exon38			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.5037C>A	8.37:g.125113491C>A	ENSP00000428280:p.Phe1679Leu		125182672	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635554	0.47049	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86097	-2.07;-2.07	5.71	-3.93	0.04143	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059114	0.64402	U	0.000002	D	0.87018	0.6073	L	0.52206	1.635	0.46149	D	0.998894	D	0.76494	0.999	D	0.75020	0.985	D	0.84225	0.0463	10	0.54805	T	0.06	-14.0459	12.4329	0.55583	0.0:0.3587:0.0:0.6413	.	1679	Q2WGJ9	FR1L6_HUMAN	L	1679	ENSP00000428280:F1679L;ENSP00000381982:F1679L	ENSP00000381982:F1679L	F	+	3	2	FER1L6	125182672	0.961000	0.32948	0.665000	0.29768	0.056000	0.15407	0.095000	0.15127	-1.038000	0.03279	-0.253000	0.11424	TTC		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TATDN1	83940	broad.mit.edu	37	8	125507733	125507733	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:125507733T>G	ENST00000276692.6	-	10	681	c.644A>C	c.(643-645)gAa>gCa	p.E215A	TATDN1_ENST00000521546.1_5'Flank|TATDN1_ENST00000517678.1_Missense_Mutation_p.E161A|TATDN1_ENST00000519548.1_Missense_Mutation_p.E168A	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	215					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.E215A(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)			CATTAATTTTTCACTAGGAAT	0.294																																					p.E168A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A503C	8						.						39.0	40.0	39.0					8																	125507733		2200	4287	6487	125576914	SO:0001583	missense	83940	exon8			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	ENST00000276692.6:c.644A>C	8.37:g.125507733T>G	ENSP00000276692:p.Glu215Ala		125576914	NM_001146160	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602266	0.66445	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678	.	.	.	5.58	5.58	0.84498	Deoxyribonuclease, TatD-related, conserved site (1);	0.102547	0.64402	D	0.000003	T	0.71970	0.3403	M	0.85373	2.75	0.58432	D	0.99999	P;B	0.38745	0.645;0.225	B;B	0.43194	0.411;0.347	T	0.76937	-0.2774	9	0.66056	D	0.02	-23.3835	15.76	0.78073	0.0:0.0:0.0:1.0	.	251;215	E5RG17;Q6P1N9	.;TATD1_HUMAN	A	215;168;251;161	.	ENSP00000276692:E215A	E	-	2	0	TATDN1	125576914	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.437000	0.80417	2.125000	0.65367	0.528000	0.53228	GAA		0.294	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
DLC1	10395	broad.mit.edu	37	8	12957491	12957491	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:12957491T>G	ENST00000276297.4	-	9	2764	c.2355A>C	c.(2353-2355)tcA>tcC	p.S785S	DLC1_ENST00000512044.2_Silent_p.S382S|DLC1_ENST00000358919.2_Silent_p.S348S|DLC1_ENST00000520226.1_Silent_p.S274S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	785	Focal adhesion-targeting (FAT).				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.S785S(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						TGTTAAATGTTGACTGATTGA	0.547																																					p.S785S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2355C	8						.						89.0	82.0	84.0					8																	12957491		2203	4300	6503	13001862	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.2355A>C	8.37:g.12957491T>G			13001862	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.547	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TATDN1	83940	broad.mit.edu	37	8	125520867	125520867	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:125520867C>T	ENST00000276692.6	-	7	489	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000517678.1_Missense_Mutation_p.R97Q|TATDN1_ENST00000519548.1_Missense_Mutation_p.R104Q|TATDN1_ENST00000605953.1_Missense_Mutation_p.R151Q	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	151					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.R151Q(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)			ATGTGAGTTTCGACAATGAAG	0.279																																					p.R104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	8						.						53.0	50.0	51.0					8																	125520867		2203	4295	6498	125590048	SO:0001583	missense	83940	exon5			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	ENST00000276692.6:c.452G>A	8.37:g.125520867C>T	ENSP00000276692:p.Arg151Gln		125590048	NM_001146160	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575121	0.96553	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000517678;ENST00000523888;ENST00000523152	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.98802	4.335	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94444	0.7661	9	0.87932	D	0	-12.2863	19.8917	0.96932	0.0:1.0:0.0:0.0	.	151;151	E5RG17;Q6P1N9	.;TATD1_HUMAN	Q	151;104;151;97;104;91	.	ENSP00000276692:R151Q	R	-	2	0	TATDN1	125590048	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.085000	0.76875	2.705000	0.92388	0.591000	0.81541	CGA		0.279	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
ASAP1	50807	broad.mit.edu	37	8	131073086	131073086	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:131073086G>T	ENST00000518721.1	-	28	3158	c.2931C>A	c.(2929-2931)ctC>ctA	p.L977L	ASAP1_ENST00000357668.1_Silent_p.L977L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	977	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.L977L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTAAGTCTGAGAGTTGGGGTT	0.582																																					p.L977L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2931A	8						.						89.0	97.0	94.0					8																	131073086		2203	4300	6503	131142268	SO:0001819	synonymous_variant	50807	exon27			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2931C>A	8.37:g.131073086G>T			131142268	NM_018482	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858170	0.17178	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	T;T	0.10860	3.07;2.83	5.62	4.75	0.60458	.	0.952676	0.08712	N	0.904787	T	0.09949	0.0244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19679	-1.0298	7	0.14656	T	0.56	.	7.4152	0.27040	0.0927:0.1843:0.723:0.0	.	.	.	.	I	798;334	ENSP00000429391:L798I;ENSP00000429829:L334I	ENSP00000429829:L334I	L	-	1	0	ASAP1	131142268	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.381000	0.20619	1.357000	0.45904	0.561000	0.74099	CTC		0.582	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
DLC1	10395	broad.mit.edu	37	8	13356684	13356684	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:13356684A>G	ENST00000276297.4	-	2	1306	c.897T>C	c.(895-897)ttT>ttC	p.F299F	DLC1_ENST00000316609.5_Silent_p.F299F|DLC1_ENST00000511869.1_Silent_p.F299F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	299					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.F299F(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						GATGTTGTGAAAAACCACTCT	0.463																																					p.F299F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T897C	8						.						195.0	182.0	186.0					8																	13356684		2203	4300	6503	13401055	SO:0001819	synonymous_variant	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.897T>C	8.37:g.13356684A>G			13401055	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	CCDS5989.1																																																																																				0.463	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
DLC1	10395	broad.mit.edu	37	8	13357316	13357316	+	Missense_Mutation	SNP	C	C	A	rs150090193		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:13357316C>A	ENST00000276297.4	-	2	674	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	DLC1_ENST00000316609.5_Missense_Mutation_p.D89Y|DLC1_ENST00000511869.1_Missense_Mutation_p.D89Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	89					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.D89Y(5)		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						TCATGGCTGTCATTTTCGTCC	0.443																																					p.D89Y												.	.	5	Substitution - Missense(5)	lung(3)|large_intestine(2)	c.G265T	8						.						221.0	221.0	221.0					8																	13357316		2203	4300	6503	13401687	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.265G>T	8.37:g.13357316C>A	ENSP00000276297:p.Asp89Tyr		13401687	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342451	0.41498	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.32988	1.43;1.43;1.43	5.55	2.53	0.30540	.	0.302054	0.23900	N	0.043455	T	0.44705	0.1306	L	0.54323	1.7	0.35272	D	0.780576	B;D;D	0.89917	0.33;1.0;0.998	B;D;P	0.76575	0.091;0.988;0.87	T	0.54899	-0.8224	10	0.87932	D	0	.	7.0376	0.25002	0.1305:0.6749:0.1259:0.0686	.	89;89;89	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	Y	89	ENSP00000276297:D89Y;ENSP00000321034:D89Y;ENSP00000425878:D89Y	ENSP00000276297:D89Y	D	-	1	0	DLC1	13401687	1.000000	0.71417	0.714000	0.30535	0.303000	0.27691	2.066000	0.41452	0.787000	0.33731	0.655000	0.94253	GAC		0.443	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
LRRC6	23639	broad.mit.edu	37	8	133673745	133673745	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:133673745T>G	ENST00000519595.1	-	2	237	c.139A>C	c.(139-141)Aaa>Caa	p.K47Q	LRRC6_ENST00000250173.1_Missense_Mutation_p.K47Q|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Missense_Mutation_p.K47Q			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	47					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.K47Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAGAGAATTTTTAAATCCCGG	0.353																																					p.K47Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A139C	8						.						44.0	46.0	45.0					8																	133673745		2203	4300	6503	133742927	SO:0001583	missense	23639	exon2			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.139A>C	8.37:g.133673745T>G	ENSP00000429791:p.Lys47Gln		133742927	NM_012472	Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37		.	.	.	.	.	.	.	.	.	.	T	19.97	3.925617	0.73213	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	T;T;T	0.54479	0.57;0.57;0.57	6.02	6.02	0.97574	.	0.127518	0.64402	D	0.000001	T	0.68641	0.3023	L	0.58101	1.795	0.54753	D	0.999987	D	0.65815	0.995	D	0.68353	0.957	T	0.69495	-0.5130	10	0.54805	T	0.06	-43.2293	15.7743	0.78198	0.0:0.0:0.0:1.0	.	47	Q86X45	LRRC6_HUMAN	Q	47	ENSP00000429791:K47Q;ENSP00000428610:K47Q;ENSP00000250173:K47Q	ENSP00000250173:K47Q	K	-	1	0	LRRC6	133742927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.785000	0.68998	2.321000	0.78463	0.529000	0.55759	AAA		0.353	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472	
SGCZ	137868	broad.mit.edu	37	8	14095188	14095188	+	Splice_Site	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:14095188C>T	ENST00000382080.1	-	4	1052	c.337G>A	c.(337-339)Gat>Aat	p.D113N	SGCZ_ENST00000421524.2_Splice_Site_p.D66N	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	100					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.D113N(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)		AGCGGACTATCCTGGGAAACA	0.343																																					p.D113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337A	8						.						200.0	195.0	196.0					8																	14095188		2203	4300	6503	14139559	SO:0001630	splice_region_variant	137868	exon4			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.337-1G>A	8.37:g.14095188C>T			14139559	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	c	17.15	3.316790	0.60524	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.96427	-4.01;-4.01	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	L	0.57536	1.79	0.32434	N	0.547571	B;B	0.19331	0.035;0.028	B;B	0.23275	0.045;0.018	D	0.92783	0.6242	10	0.23891	T	0.37	.	18.6034	0.91257	0.0:1.0:0.0:0.0	.	66;113	Q08AT0;Q96LD1-2	.;.	N	113;66	ENSP00000371512:D113N;ENSP00000405224:D66N	ENSP00000371512:D113N	D	-	1	0	SGCZ	14139559	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.935000	0.75886	2.712000	0.92718	0.591000	0.81541	GAT		0.343	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	Missense_Mutation
FAM135B	51059	broad.mit.edu	37	8	139163587	139163587	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:139163587A>C	ENST00000395297.1	-	13	3301	c.3131T>G	c.(3130-3132)tTc>tGc	p.F1044C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1044								p.F1044C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGATGAGAAAGGGAGACA	0.532										HNSCC(54;0.14)																											p.F1044C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3131G	8						.						65.0	64.0	64.0					8																	139163587		2203	4300	6503	139232769	SO:0001583	missense	51059	exon13			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3131T>G	8.37:g.139163587A>C	ENSP00000378710:p.Phe1044Cys		139232769	NM_015912	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170168	0.78452	.	.	ENSG00000147724	ENST00000395297	T	0.23950	1.88	5.32	5.32	0.75619	.	0.056910	0.64402	D	0.000001	T	0.52533	0.1740	M	0.77103	2.36	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.921	T	0.58142	-0.7688	10	0.87932	D	0	-25.1287	14.4636	0.67467	1.0:0.0:0.0:0.0	.	1044;1044;1044	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	C	1044	ENSP00000378710:F1044C	ENSP00000276737:F1044C	F	-	2	0	FAM135B	139232769	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.020000	0.59435	0.528000	0.53228	TTC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
MROH5	389690	broad.mit.edu	37	8	142481240	142481240	+	RNA	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:142481240G>A	ENST00000430863.1	-	0	2001					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.L641L(1)									TCCTGGCACAGCATCCCCAGT	0.542																																					p.L641L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1921T	8						.						118.0	124.0	122.0					8																	142481240		2036	4189	6225	142550422			389690	exon16					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.142481240G>A			142550422	NM_207414		Silent	SNP	ENST00000430863.1	37																																																																																					0.542	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414	
CYP11B1	1584	broad.mit.edu	37	8	143958608	143958608	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:143958608C>A	ENST00000292427.4	-	3	458	c.426G>T	c.(424-426)ttG>ttT	p.L142F	CYP11B1_ENST00000377675.3_Missense_Mutation_p.L213F|CYP11B1_ENST00000517471.1_Missense_Mutation_p.L142F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	142					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)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L142F(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GATTCAGCCGCAATCGGTTGA	0.612									Familial Hyperaldosteronism type I																												p.L142F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G426T	8						.						60.0	48.0	52.0					8																	143958608		2203	4300	6503	143955610	SO:0001583	missense	1584	exon3	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.426G>T	8.37:g.143958608C>A	ENSP00000292427:p.Leu142Phe		143955610	NM_001026213	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	15.11	2.737336	0.49045	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.68479	-0.33;2.7;-0.33	3.74	2.85	0.33270	.	1.123640	0.06894	N	0.804778	T	0.80325	0.4602	M	0.85462	2.755	0.09310	N	1	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.79108	0.992;0.985;0.987	T	0.63730	-0.6571	10	0.10111	T	0.7	.	7.8241	0.29305	0.0:0.8749:0.0:0.1251	.	213;142;142	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	F	142;142;213	ENSP00000292427:L142F;ENSP00000428043:L142F;ENSP00000366903:L213F	ENSP00000292427:L142F	L	-	3	2	CYP11B1	143955610	0.008000	0.16893	0.006000	0.13384	0.299000	0.27559	0.417000	0.21214	0.855000	0.35359	-0.266000	0.10368	TTG		0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
SGCZ	137868	broad.mit.edu	37	8	14412352	14412352	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:14412352A>C	ENST00000382080.1	-	2	838	c.123T>G	c.(121-123)atT>atG	p.I41M	SGCZ_ENST00000421524.2_Missense_Mutation_p.I28M	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	28					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.I41M(2)		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)		GCCATCCATAAATTCCCACTG	0.383																																					p.I41M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T123G	8						.						234.0	224.0	227.0					8																	14412352		2203	4300	6503	14456723	SO:0001583	missense	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.123T>G	8.37:g.14412352A>C	ENSP00000371512:p.Ile41Met		14456723	NM_139167	Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866071	0.51588	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.95518	-3.73;-3.73	5.39	4.22	0.49857	.	0.051250	0.85682	D	0.000000	D	0.95834	0.8644	M	0.76170	2.325	0.47374	D	0.999403	P;P	0.50943	0.94;0.926	P;B	0.51742	0.678;0.41	D	0.94917	0.8070	10	0.59425	D	0.04	.	10.9874	0.47530	0.8527:0.0:0.0:0.1473	.	28;41	Q08AT0;Q96LD1-2	.;.	M	41;28	ENSP00000371512:I41M;ENSP00000405224:I28M	ENSP00000371512:I41M	I	-	3	3	SGCZ	14456723	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	0.971000	0.38288	0.528000	0.53228	ATT		0.383	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167	
C8orf31	286122	broad.mit.edu	37	8	144124639	144124639	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:144124639C>A	ENST00000395172.1	+	3	498	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	49								p.S49Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTGCAGAGGTCTCCCTTGCAG	0.617																																					p.S49Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C146A	8						.						40.0	43.0	42.0					8																	144124639		2203	4300	6503	144196014	SO:0001583	missense	286122	exon3				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.146C>A	8.37:g.144124639C>A	ENSP00000378601:p.Ser49Tyr		144196014	NM_173687	Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	c	11.37	1.618702	0.28801	.	.	ENSG00000177335	ENST00000395172	T	0.55413	0.52	2.38	2.38	0.29361	.	.	.	.	.	T	0.49474	0.1559	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.35450	-0.9788	9	0.87932	D	0	.	8.5538	0.33469	0.0:1.0:0.0:0.0	.	49	Q8N9H6	CH031_HUMAN	Y	49	ENSP00000378601:S49Y	ENSP00000378601:S49Y	S	+	2	0	C8orf31	144196014	0.006000	0.16342	0.007000	0.13788	0.057000	0.15508	0.915000	0.28638	1.680000	0.50976	0.435000	0.28638	TCT		0.617	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687	
ZNF7	7553	broad.mit.edu	37	8	146067469	146067469	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:146067469G>T	ENST00000528372.1	+	5	1217	c.977G>T	c.(976-978)aGa>aTa	p.R326I	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R337I|ZNF7_ENST00000544249.1_Missense_Mutation_p.R230I|ZNF7_ENST00000325241.6_Missense_Mutation_p.R326I			P17097	ZNF7_HUMAN	zinc finger protein 7	326					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R326I(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CACCATCAGAGAATCCACACA	0.517																																					p.R326I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G977T	8						.						62.0	61.0	61.0					8																	146067469		2203	4300	6503	146038273	SO:0001583	missense	7553	exon5			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.977G>T	8.37:g.146067469G>T	ENSP00000432724:p.Arg326Ile		146038273	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932678	0.52866	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.50854	0.1640	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.52931	-0.8509	9	.	.	.	-27.6824	10.8322	0.46667	0.0875:0.0:0.9125:0.0	.	337;326	B4DT08;P17097	.;ZNF7_HUMAN	I	326;337;230;326	ENSP00000320627:R326I;ENSP00000393260:R337I;ENSP00000439424:R230I;ENSP00000432724:R326I	.	R	+	2	0	ZNF7	146038273	0.000000	0.05858	0.991000	0.47740	0.325000	0.28411	0.003000	0.13083	2.629000	0.89072	0.555000	0.69702	AGA		0.517	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
TDRP	157695	broad.mit.edu	37	8	444561	444561	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:444561T>C	ENST00000324079.6	-	2	385	c.145A>G	c.(145-147)Act>Gct	p.T49A	TDRP_ENST00000523656.1_Missense_Mutation_p.T49A|TDRP_ENST00000524229.1_5'UTR|TDRP_ENST00000427263.2_Missense_Mutation_p.T49A			Q86YL5	TDRP_HUMAN	testis development related protein	49					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T49A(1)									AACAGTGAAGTCACTTCTTTC	0.373																																					p.T49A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A145G	8						.						150.0	133.0	139.0					8																	444561		1889	4120	6009	434561	SO:0001583	missense	157695	exon2			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.145A>G	8.37:g.444561T>C	ENSP00000315111:p.Thr49Ala		434561	NM_175075	B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026393	0.75390	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	5.92	4.76	0.60689	.	0.101705	0.64402	N	0.000002	T	0.47563	0.1452	L	0.61218	1.895	0.42202	D	0.991779	P;B	0.45474	0.859;0.336	B;B	0.38458	0.274;0.078	T	0.52298	-0.8594	9	0.66056	D	0.02	-16.477	10.0969	0.42480	0.0:0.0792:0.0:0.9208	.	49;49	B6VF03;Q86YL5	.;CH042_HUMAN	A	49	.	ENSP00000315111:T49A	T	-	1	0	C8orf42	434561	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	4.801000	0.62532	1.063000	0.40649	0.528000	0.53228	ACT		0.373	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075	
CSMD1	64478	broad.mit.edu	37	8	3047450	3047450	+	Silent	SNP	C	C	T	rs117013822	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:3047450C>T	ENST00000520002.1	-	35	5940	c.5385G>A	c.(5383-5385)acG>acA	p.T1795T	CSMD1_ENST00000602723.1_Silent_p.T1795T|CSMD1_ENST00000539096.1_Silent_p.T1794T|CSMD1_ENST00000537824.1_Silent_p.T1794T|CSMD1_ENST00000400186.3_Silent_p.T1795T|CSMD1_ENST00000542608.1_Silent_p.T1794T|CSMD1_ENST00000602557.1_Silent_p.T1795T|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.T1794T(1)|p.T1523T(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)		AGCTGGGGATCGTGTCGTTCC	0.597													C|||	21	0.00419329	0.0	0.0	5008	,	,		5345	0.0188		0.0	False		,,,				2504	0.002				p.D1795N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5383A	8						.						33.0	37.0	35.0					8																	3047450		2016	4164	6180	3034857	SO:0001819	synonymous_variant	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.5385G>A	8.37:g.3047450C>T			3034857	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		12	0.005494505494505495	0	0.0	0	0.0	12	0.02097902097902098	0	0.0	C	0.270	-0.993252	0.02145	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	-10.4	0.00318	.	.	.	.	.	T	0.19805	0.0476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49143	-0.8970	4	.	.	.	.	3.1536	0.06497	0.1277:0.3037:0.3196:0.2491	.	.	.	.	N	1275	.	.	D	-	1	0	CSMD1	3034857	0.001000	0.12720	0.002000	0.10522	0.147000	0.21601	-1.964000	0.01512	-3.843000	0.00100	-1.056000	0.02311	GAT		0.597	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3265610	3265610	+	Missense_Mutation	SNP	C	C	A	rs267601901		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:3265610C>A	ENST00000520002.1	-	15	2440	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.D629Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.D628Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.D628Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.D629Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.D628Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.D629Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	629	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.D628Y(1)|p.D357Y(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)		ACATCAAAATCATTAAAGATT	0.418																																					p.X628L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1883T	8						.						79.0	71.0	73.0					8																	3265610		1894	4105	5999	3253017	SO:0001583	missense	64478	exon14					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.1885G>T	8.37:g.3265610C>A	ENSP00000430733:p.Asp629Tyr		3253017	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.449877|4.449877	0.84101|0.84101	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.19806|.	2.12;2.12;2.12;2.12;2.12|.	5.23|5.23	5.23|5.23	0.72850|0.72850	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77877|.	0.4196|.	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|.	0.78437|.	-0.2204|.	10|.	0.48119|.	T|.	0.1|.	.|.	18.7996|18.7996	0.92010|0.92010	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	629;629|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	Y|L	629;629;491;628;628;628|108	ENSP00000383047:D629Y;ENSP00000430733:D629Y;ENSP00000441462:D628Y;ENSP00000446243:D628Y;ENSP00000441675:D628Y|.	ENSP00000320445:D491Y|.	D|X	-|-	1|2	0|2	CSMD1|CSMD1	3253017|3253017	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.867000|0.867000	0.49689|0.49689	7.619000|7.619000	0.83057|0.83057	2.437000|2.437000	0.82529|0.82529	0.467000|0.467000	0.42956|0.42956	GAT|TGA		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
AGPAT5	55326	broad.mit.edu	37	8	6614699	6614699	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:6614699T>G	ENST00000285518.6	+	8	1197	c.885T>G	c.(883-885)ttT>ttG	p.F295L	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	295					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.F295L(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TTATAGAATTTTATGAGTCAC	0.313																																					p.F295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T885G	8						.						35.0	36.0	36.0					8																	6614699		2202	4300	6502	6602107	SO:0001583	missense	55326	exon8			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.885T>G	8.37:g.6614699T>G	ENSP00000285518:p.Phe295Leu		6602107	NM_018361	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.303045|4.303045	0.81136|0.81136	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000518327|ENST00000285518	T|T	0.67171|0.65178	-0.25|-0.14	6.04|6.04	-0.291|-0.291	0.12843|0.12843	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	.|D	.|0.55800	.|0.973	.|P	.|0.53549	.|0.729	T|T	0.75676|0.75676	-0.3235|-0.3235	8|10	0.87932|0.52906	D|T	0|0.07	-15.0245|-15.0245	9.61|9.61	0.39657|0.39657	0.0:0.4793:0.0:0.5207|0.0:0.4793:0.0:0.5207	.|.	.|295	.|Q9NUQ2	.|PLCE_HUMAN	C|L	112|295	ENSP00000430751:F112C|ENSP00000285518:F295L	ENSP00000430751:F112C|ENSP00000285518:F295L	F|F	+|+	2|3	0|2	AGPAT5|AGPAT5	6602107|6602107	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.988000|0.988000	0.76386|0.76386	0.270000|0.270000	0.18607|0.18607	-0.119000|-0.119000	0.11830|0.11830	-0.366000|-0.366000	0.07423|0.07423	TTT|TTT		0.313	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361	
SPAG11B	10407	broad.mit.edu	37	8	7320331	7320331	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:7320331C>A	ENST00000297498.2	-	2	278	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	SPAG11B_ENST00000317900.5_Nonsense_Mutation_p.E38*|SPAG11B_ENST00000398462.2_Nonsense_Mutation_p.E38*|SPAG11B_ENST00000359758.5_Nonsense_Mutation_p.E38*|SPAG11B_ENST00000361111.2_Nonsense_Mutation_p.E38*	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	38					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.E38*(2)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCCCTGAGTTCTCCGAGAGCC	0.592																																					p.E38X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G112T	8						.						13.0	18.0	16.0					8																	7320331		2069	4095	6164	7307741	SO:0001587	stop_gained	10407	exon2			AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.112G>T	8.37:g.7320331C>A	ENSP00000297498:p.Glu38*		7307741	NM_058200	E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Nonsense_Mutation	SNP	ENST00000297498.2	37	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317226	0.60524	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	.	.	.	2.59	-1.71	0.08133	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	2.6534	0.05005	0.229:0.3355:0.0:0.4355	.	.	.	.	X	21;38;38;38;38;38	.	ENSP00000297498:E38X	E	-	1	0	SPAG11B	7307741	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.119000	0.10676	-0.461000	0.06993	-0.384000	0.06662	GAA		0.592	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207	
PPP1R3B	79660	broad.mit.edu	37	8	8998613	8998613	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:8998613A>C	ENST00000310455.3	-	2	699	c.549T>G	c.(547-549)acT>acG	p.T183T	PPP1R3B_ENST00000519699.1_Silent_p.T183T|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	183	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				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.T183T(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)		AACCGGCATAAGTGTCCTTCA	0.473																																					p.T183T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T549G	8						.						220.0	185.0	196.0					8																	8998613		2203	4300	6503	9036023	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.549T>G	8.37:g.8998613A>C			9036023	NM_024607	B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	CCDS5973.1																																																																																				0.473	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607	
TUSC3	7991	broad.mit.edu	37	8	15508236	15508236	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:15508236G>A	ENST00000503731.1	+	3	487	c.339G>A	c.(337-339)gcG>gcA	p.A113A	TUSC3_ENST00000506802.1_Silent_p.A113A|TUSC3_ENST00000382020.4_Silent_p.A113A|TUSC3_ENST00000509380.1_Silent_p.A113A|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	113	Thioredoxin.				cell redox homeostasis (GO:0045454)|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)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A113A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AAATACTGGCGAACTCCTGGC	0.388																																					p.A113A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G339A	8						.						228.0	220.0	223.0					8																	15508236		2203	4300	6503	15552607	SO:0001819	synonymous_variant	7991	exon3			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.339G>A	8.37:g.15508236G>A			15552607	NM_178234	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																				0.388	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
MTUS1	57509	broad.mit.edu	37	8	17510728	17510728	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:17510728T>C	ENST00000262102.6	-	12	3575	c.3351A>G	c.(3349-3351)gaA>gaG	p.E1117E	MTUS1_ENST00000544260.1_Silent_p.E262E|MTUS1_ENST00000400046.1_Silent_p.E189E|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Silent_p.E364E|MTUS1_ENST00000297488.6_Silent_p.E283E|MTUS1_ENST00000381869.3_Silent_p.E1063E|MTUS1_ENST00000519263.1_Silent_p.E1063E	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1117					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.E1117E(1)|p.E364E(1)|p.E283E(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)		TTCTTTTTTGTTCTTCTGATT	0.308																																					p.E1063E												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A3189G	8						.						189.0	174.0	178.0					8																	17510728		1818	4082	5900	17555008	SO:0001819	synonymous_variant	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.3351A>G	8.37:g.17510728T>C			17555008	NM_001001925	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	CCDS43717.1																																																																																				0.308	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
FGL1	2267	broad.mit.edu	37	8	17726445	17726445	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:17726445A>C	ENST00000398056.2	-	8	1386	c.571T>G	c.(571-573)Ttc>Gtc	p.F191V	FGL1_ENST00000398054.1_Missense_Mutation_p.F191V|FGL1_ENST00000518650.1_Missense_Mutation_p.F191V|FGL1_ENST00000522444.1_Missense_Mutation_p.F191V|FGL1_ENST00000381841.2_Missense_Mutation_p.F191V|FGL1_ENST00000381840.2_Missense_Mutation_p.F191V|FGL1_ENST00000427924.1_Missense_Mutation_p.F191V			Q08830	FGL1_HUMAN	fibrinogen-like 1	191	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.F191V(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)		CCAACTTTGAAATTCTTATAT	0.284																																					p.F191V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T571G	8						.						53.0	58.0	57.0					8																	17726445		2203	4290	6493	17770725	SO:0001583	missense	2267	exon6			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.571T>G	8.37:g.17726445A>C	ENSP00000381133:p.Phe191Val		17770725	NM_004467	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215608	0.79352	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.77	4.77	0.60923	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	T	0.76898	0.4052	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.91635	0.981;0.999;0.953	T	0.82246	-0.0552	10	0.62326	D	0.03	.	14.6056	0.68475	1.0:0.0:0.0:0.0	.	161;191;191	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	V	191;191;161;191;191;191;191;191;191	ENSP00000381133:F191V;ENSP00000429757:F191V;ENSP00000371263:F191V;ENSP00000401952:F191V;ENSP00000381131:F191V;ENSP00000371262:F191V;ENSP00000428430:F191V	ENSP00000221204:F191V	F	-	1	0	FGL1	17770725	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.743000	0.91592	1.924000	0.55735	0.377000	0.23210	TTC		0.284	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
PCM1	5108	broad.mit.edu	37	8	17829985	17829985	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:17829985A>C	ENST00000519253.1	+	23	3983	c.3732A>C	c.(3730-3732)ttA>ttC	p.L1244F	PCM1_ENST00000325083.8_Missense_Mutation_p.L1244F|PCM1_ENST00000524226.1_Missense_Mutation_p.L1245F|PCM1_ENST00000327578.8_5'Flank			Q15154	PCM1_HUMAN	pericentriolar material 1	1244					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.L1244F(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)		AAAATCAATTAGATACAAACG	0.368			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																p.L1244F			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3732C	8						.						96.0	91.0	92.0					8																	17829985		1846	4091	5937	17874265	SO:0001583	missense	5108	exon23				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.3732A>C	8.37:g.17829985A>C	ENSP00000431099:p.Leu1244Phe		17874265	NM_006197	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37		.	.	.	.	.	.	.	.	.	.	A	2.323	-0.355247	0.05138	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.49720	0.77;0.77;0.77	4.97	0.923	0.19413	.	1.123680	0.06519	N	0.739336	T	0.27663	0.0680	N	0.22421	0.69	0.29286	N	0.869724	B;P;B;P	0.36909	0.004;0.573;0.006;0.573	B;B;B;B	0.33521	0.009;0.165;0.006;0.165	T	0.22556	-1.0213	10	0.23302	T	0.38	0.0288	2.1767	0.03864	0.591:0.1085:0.1512:0.1494	.	106;1244;1245;1244	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	F	1244;1244;1245	ENSP00000327077:L1244F;ENSP00000431099:L1244F;ENSP00000430521:L1245F	ENSP00000327077:L1244F	L	+	3	2	PCM1	17874265	0.147000	0.22687	0.082000	0.20525	0.066000	0.16364	0.351000	0.20096	0.057000	0.16193	0.402000	0.26972	TTA		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197	
ATP6V1B2	526	broad.mit.edu	37	8	20070411	20070411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:20070411C>T	ENST00000276390.2	+	9	962	c.922C>T	c.(922-924)Cga>Tga	p.R308*		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	308					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)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TGAAGCACTTCGAGAGGTAAG	0.373																																					p.R308X	Pancreas(119;1230 1726 3901 4036 31644)											.	.	0			c.C922T	8						.						140.0	126.0	131.0					8																	20070411		2203	4300	6503	20114691	SO:0001587	stop_gained	526	exon9			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.922C>T	8.37:g.20070411C>T	ENSP00000276390:p.Arg308*		20114691	NM_001693	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Nonsense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756648	0.96898	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	.	.	.	4.9	4.9	0.64082	.	0.053125	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-37.4833	12.2844	0.54783	0.1696:0.8304:0.0:0.0	.	.	.	.	X	308;182	.	ENSP00000276390:R308X	R	+	1	2	ATP6V1B2	20114691	0.058000	0.20735	1.000000	0.80357	0.912000	0.54170	0.384000	0.20668	2.699000	0.92147	0.655000	0.94253	CGA		0.373	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693	
PIWIL2	55124	broad.mit.edu	37	8	22172598	22172598	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:22172598G>T	ENST00000454009.2	+	18	2657	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	PIWIL2_ENST00000356766.6_Missense_Mutation_p.K716N|PIWIL2_ENST00000521356.1_Missense_Mutation_p.K716N	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	716	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				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.K716N(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)		TGGCCCAGAAGATTTTACTTC	0.488																																					p.K716N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2148T	8						.						142.0	137.0	139.0					8																	22172598		2203	4300	6503	22228543	SO:0001583	missense	55124	exon18			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.2148G>T	8.37:g.22172598G>T	ENSP00000406956:p.Lys716Asn		22228543	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649040	0.67358	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.19105	2.17;2.17;2.17	5.75	2.1	0.27182	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	L	0.41961	1.31	0.58432	D	0.999996	D;D	0.69078	0.972;0.997	D;D	0.70016	0.912;0.967	T	0.02238	-1.1190	10	0.21014	T	0.42	-2.5778	9.0205	0.36198	0.7847:0.0:0.2153:0.0	.	716;716	E7ECA4;Q8TC59	.;PIWL2_HUMAN	N	716	ENSP00000349208:K716N;ENSP00000428267:K716N;ENSP00000406956:K716N	ENSP00000349208:K716N	K	+	3	2	PIWIL2	22228543	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.129000	0.31381	0.190000	0.20209	-0.247000	0.11927	AAG		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
ADAM28	10863	broad.mit.edu	37	8	24187506	24187506	+	Silent	SNP	C	C	T	rs149927944		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:24187506C>T	ENST00000265769.4	+	11	1091	c.981C>T	c.(979-981)agC>agT	p.S327S	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.S94S|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S74S|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_Silent_p.S327S	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	327	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S327S(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)		AGGACCACAGCGATAATCTTC	0.393													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20473	0.0		0.0	False		,,,				2504	0.0				p.S327S	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C981T	8						.	T	,	4,4402	825.7+/-416.5	0,4,2199	139.0	130.0	133.0		981,981	3.5	0.3	8	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ADAM28	NM_014265.4,NM_021777.3	,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,	327/776,327/541	24187506	4,13002	2203	4300	6503	24243451	SO:0001819	synonymous_variant	10863	exon11			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.981C>T	8.37:g.24187506C>T			24243451	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																				0.393	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
NEFL	4747	broad.mit.edu	37	8	24810436	24810436	+	RNA	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:24810436C>A	ENST00000221169.5	-	0	2114							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)	p.E507*(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tcttcttcttcttttgcttct	0.423																																					p.R507I												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1520T	8						.						139.0	133.0	135.0					8																	24810436		1857	4088	5945	24866353			4747	exon4				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24810436C>A			24866353	NM_006158	B9ZVN2|Q16154|Q8IU72	Nonsense_Mutation	SNP	ENST00000221169.5	37																																																																																					0.423	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
EBF2	64641	broad.mit.edu	37	8	25718853	25718853	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:25718853G>A	ENST00000520164.1	-	12	1673	c.1136C>T	c.(1135-1137)gCt>gTt	p.A379V	EBF2_ENST00000408929.3_Missense_Mutation_p.A231V|EBF2_ENST00000535548.1_Missense_Mutation_p.A110V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	379					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|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)|metal ion binding (GO:0046872)	p.A379V(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCCATAAAGAGCTTCCACTAG	0.403																																					p.A379V	Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1136T	8						.						162.0	157.0	159.0					8																	25718853		1904	4121	6025	25774770	SO:0001583	missense	64641	exon12			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1136C>T	8.37:g.25718853G>A	ENSP00000430241:p.Ala379Val		25774770	NM_022659	A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841340	0.32513	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.41758	0.99;0.99;0.99	5.5	5.5	0.81552	Helix-loop-helix DNA-binding (1);	0.048156	0.85682	D	0.000000	T	0.44286	0.1286	M	0.83953	2.67	0.58432	D	0.999999	P	0.45768	0.866	B	0.26969	0.075	T	0.61436	-0.7063	10	0.66056	D	0.02	.	19.3942	0.94598	0.0:0.0:1.0:0.0	.	379	Q9HAK2	COE2_HUMAN	V	379;231;110	ENSP00000430241:A379V;ENSP00000386178:A231V;ENSP00000437909:A110V	ENSP00000386178:A231V	A	-	2	0	EBF2	25774770	1.000000	0.71417	0.992000	0.48379	0.040000	0.13550	7.884000	0.87274	2.587000	0.87381	0.655000	0.94253	GCT		0.403	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	
TEX15	56154	broad.mit.edu	37	8	30701275	30701275	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:30701275A>C	ENST00000256246.2	-	1	5333	c.5259T>G	c.(5257-5259)taT>taG	p.Y1753*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1753					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.Y1753*(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)		AGAATGCATTATATTTTAATC	0.333																																					p.Y1753X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T5259G	8						.						70.0	67.0	68.0					8																	30701275		2203	4300	6503	30820817	SO:0001587	stop_gained	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.5259T>G	8.37:g.30701275A>C	ENSP00000256246:p.Tyr1753*		30820817	NM_031271		Nonsense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	44	10.584125	0.99432	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.69	-2.47	0.06442	.	0.127324	0.36303	N	0.002664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3638	0.60671	0.3445:0.0:0.6555:0.0	.	.	.	.	X	1753	.	ENSP00000256246:Y1753X	Y	-	3	2	TEX15	30820817	0.901000	0.30685	0.984000	0.44739	0.975000	0.68041	-0.027000	0.12371	-0.370000	0.08016	-0.274000	0.10170	TAT		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30704165	30704165	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:30704165T>C	ENST00000256246.2	-	1	2443	c.2369A>G	c.(2368-2370)gAc>gGc	p.D790G	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	790					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.D790G(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)		TGCAAGGGAGTCAGCTGTCGG	0.353																																					p.D790G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2369G	8						.						48.0	50.0	49.0					8																	30704165		2202	4299	6501	30823707	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.2369A>G	8.37:g.30704165T>C	ENSP00000256246:p.Asp790Gly		30823707	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.334022	0.41297	.	.	ENSG00000133863	ENST00000256246	T	0.12465	2.68	5.93	4.78	0.61160	.	0.429133	0.21581	N	0.072244	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B	0.34329	0.449	B	0.39840	0.311	T	0.18871	-1.0323	10	0.87932	D	0	.	8.8186	0.35011	0.0:0.0846:0.0:0.9154	.	790	Q9BXT5	TEX15_HUMAN	G	790	ENSP00000256246:D790G	ENSP00000256246:D790G	D	-	2	0	TEX15	30823707	0.042000	0.20092	0.001000	0.08648	0.001000	0.01503	2.631000	0.46502	1.068000	0.40764	-0.256000	0.11100	GAC		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
PURG	29942	broad.mit.edu	37	8	30889502	30889502	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:30889502G>T	ENST00000475541.1	-	1	1729	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Missense_Mutation_p.S266Y	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	266						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S266Y(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CACTCTGAAAGAAGTCCCCTC	0.453																																					p.S266Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C797A	8						.						78.0	71.0	73.0					8																	30889502		2203	4300	6503	31009044	SO:0001583	missense	29942	exon1			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.797C>A	8.37:g.30889502G>T	ENSP00000418721:p.Ser266Tyr		31009044	NM_001015508	Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504627	0.64410	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.33438	1.41;1.41	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.65320	2	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.83275	0.996;0.971	T	0.43940	-0.9360	10	0.02654	T	1	-4.8319	18.4618	0.90741	0.0:0.0:1.0:0.0	.	266;266	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	Y	266	ENSP00000345168:S266Y;ENSP00000418721:S266Y	ENSP00000345168:S266Y	S	-	2	0	PURG	31009044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.438000	0.82558	0.655000	0.94253	TCT		0.453	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357	
NRG1	3084	broad.mit.edu	37	8	32600207	32600207	+	Intron	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:32600207T>G	ENST00000405005.3	+	7	700				NRG1_ENST00000539990.1_Missense_Mutation_p.F62C|NRG1_ENST00000520407.1_Missense_Mutation_p.F397C|NRG1_ENST00000341377.5_Missense_Mutation_p.L239V|NRG1_ENST00000520502.2_Missense_Mutation_p.F271C|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Missense_Mutation_p.F161C|NRG1_ENST00000523079.1_Missense_Mutation_p.F216C|NRG1_ENST00000287845.5_Missense_Mutation_p.F182C|NRG1_ENST00000356819.4_Missense_Mutation_p.F216C|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Missense_Mutation_p.F216C			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.F216C(1)|p.F397C(1)|p.F271C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAATGAGTTTACTGGTGAT	0.438																																					p.F216C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T647G	8						.						188.0	168.0	175.0					8																	32600207		2203	4300	6503	32719749	SO:0001627	intron_variant	3084	exon7			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.700+614T>G	8.37:g.32600207T>G			32719749	NM_013957	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.91|19.91	3.914831|3.914831	0.72983|0.72983	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000356819;ENST00000287845;ENST00000287842;ENST00000520502;ENST00000518084;ENST00000519240;ENST00000539990|ENST00000341377;ENST00000523041	D;D;D;D;D;D;D;D;T;T;T;D|T	0.93953|0.78481	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;1.49;0.43;1.49;-3.32|-1.18	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|.	.|.	.|.	.|.	D|D	0.89220|0.89220	0.6653|0.6653	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D|D	0.89917|0.67145	0.998;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0|0.996	D;D;D;D;D;P;D;D;D;D;D|D	0.85130|0.72625	0.995;0.993;0.987;0.971;0.993;0.905;0.997;0.987;0.987;0.969;0.995|0.978	D|D	0.90732|0.90732	0.4643|0.4643	9|9	0.87932|0.87932	D|D	0|0	.|.	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	62;216;182;216;215;181;271;216;216;216;397|239	B7Z1E3;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;Q02297-10;Q02297-7;Q02297-6;Q02297-8;Q02297-9|Q02297-4	.;.;.;.;.;.;.;.;.;.;.|.	C|V	178;161;397;284;216;216;182;216;271;62;62;62|239;188	ENSP00000430053:F178C;ENSP00000429582:F161C;ENSP00000434640:F397C;ENSP00000429067:F284C;ENSP00000430120:F216C;ENSP00000349275:F216C;ENSP00000287845:F182C;ENSP00000287842:F216C;ENSP00000433289:F271C;ENSP00000428546:F62C;ENSP00000428411:F62C;ENSP00000439276:F62C|ENSP00000340497:L239V	ENSP00000287842:F216C|ENSP00000340497:L239V	F|L	+|+	2|1	0|2	NRG1|NRG1	32719749|32719749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.015000|8.015000	0.88690|0.88690	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.438	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
NRG1	3084	broad.mit.edu	37	8	32620765	32620765	+	Intron	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:32620765A>G	ENST00000405005.3	+	12	1268				NRG1_ENST00000539990.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Missense_Mutation_p.N433S|NRG1_ENST00000287842.3_Intron|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.N433S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAAGGAGAAACAAGGCACAC	0.388																																					p.N279S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A836G	8						.						178.0	161.0	167.0					8																	32620765		2203	4300	6503	32740307	SO:0001627	intron_variant	3084	exon8			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1269-501A>G	8.37:g.32620765A>G			32740307	NM_001159996	A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.567764	0.28003	.	.	ENSG00000157168	ENST00000521670	T	0.70399	-0.48	4.34	4.34	0.51931	.	.	.	.	.	T	0.64789	0.2630	N	0.08118	0	0.80722	D	1	P;B;B	0.51057	0.941;0.178;0.273	P;B;B	0.60415	0.874;0.074;0.115	T	0.69281	-0.5186	9	0.62326	D	0.03	.	10.2028	0.43094	1.0:0.0:0.0:0.0	.	279;429;433	B7Z1D7;B0FYA9;Q02297-3	.;.;.	S	433	ENSP00000428828:N433S	ENSP00000428828:N433S	N	+	2	0	NRG1	32740307	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.336000	0.43938	2.182000	0.69389	0.528000	0.53228	AAC		0.388	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		
FUT10	84750	broad.mit.edu	37	8	33310894	33310894	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:33310894C>T	ENST00000327671.5	-	3	847	c.216G>A	c.(214-216)agG>agA	p.R72R	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Silent_p.R44R|FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000518672.1_Silent_p.R44R	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	72					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.R72R(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)		ATTTTCTTTTCCTGTTGAAGG	0.448																																					p.R72R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216A	8						.						110.0	104.0	106.0					8																	33310894		2203	4300	6503	33430436	SO:0001819	synonymous_variant	84750	exon3			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.216G>A	8.37:g.33310894C>T			33430436	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Silent	SNP	ENST00000327671.5	37	CCDS6088.1																																																																																				0.448	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
KCNU1	157855	broad.mit.edu	37	8	36662779	36662779	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:36662779C>A	ENST00000399881.3	+	4	481	c.444C>A	c.(442-444)ttC>ttA	p.F148L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	148					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.F148L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAATGCTTTCTTTAGTTTCT	0.383																																					p.F148L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C444A	8						.						187.0	165.0	172.0					8																	36662779		1850	4087	5937	36781937	SO:0001583	missense	157855	exon4			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.444C>A	8.37:g.36662779C>A	ENSP00000382770:p.Phe148Leu		36781937	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619650	0.87460	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.44482	0.92;0.92	5.46	4.57	0.56435	Ion transport (1);	0.000000	0.64402	U	0.000007	T	0.48077	0.1480	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51725	-0.8669	10	0.87932	D	0	-0.5318	12.5765	0.56367	0.0:0.9187:0.0:0.0813	.	148	A8MYU2	KCNU1_HUMAN	L	148	ENSP00000429951:F148L;ENSP00000382770:F148L	ENSP00000382770:F148L	F	+	3	2	KCNU1	36781937	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.837000	0.62796	2.572000	0.86782	0.655000	0.94253	TTC		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
IDO1	3620	broad.mit.edu	37	8	39776378	39776378	+	Missense_Mutation	SNP	G	G	T	rs12545878		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:39776378G>T	ENST00000518237.1	+	4	987	c.348G>T	c.(346-348)aaG>aaT	p.K116N	RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.K116N	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	116					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.K116N(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AACTCTCCAAGAAACTGGAAC	0.353																																					p.K116N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	8						.						107.0	104.0	105.0					8																	39776378		1862	4098	5960	39895535	SO:0001583	missense	3620	exon4			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.348G>T	8.37:g.39776378G>T	ENSP00000430950:p.Lys116Asn		39895535	NM_002164	Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544463	0.27563	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.44881	0.91;0.91;0.91	5.85	4.94	0.65067	.	0.614821	0.16388	N	0.216562	T	0.31071	0.0785	N	0.21142	0.635	0.33089	D	0.537676	P	0.34934	0.476	B	0.38954	0.286	T	0.41484	-0.9506	9	.	.	.	-15.5224	9.5655	0.39396	0.1022:0.0:0.8978:0.0	.	116	P14902	I23O1_HUMAN	N	116	ENSP00000428716:K116N;ENSP00000430505:K116N;ENSP00000430950:K116N	.	K	+	3	2	IDO1	39895535	0.000000	0.05858	0.999000	0.59377	0.444000	0.32077	0.304000	0.19228	1.394000	0.46624	0.557000	0.71058	AAG		0.353	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	
ZMAT4	79698	broad.mit.edu	37	8	40554844	40554844	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:40554844G>A	ENST00000297737.6	-	4	415	c.269C>T	c.(268-270)gCc>gTc	p.A90V	ZMAT4_ENST00000315769.7_Missense_Mutation_p.A90V	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	90						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A90V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATGGGAATCGGCCACCACCGC	0.498																																					p.A90V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C269T	8						.						151.0	136.0	141.0					8																	40554844		2203	4300	6503	40674001	SO:0001583	missense	79698	exon4			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.269C>T	8.37:g.40554844G>A	ENSP00000297737:p.Ala90Val		40674001	NM_024645	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608570	0.96626	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.23348	1.91;1.91;1.91	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.82630	2.6	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59573	-0.7429	10	0.87932	D	0	-18.2353	19.8676	0.96824	0.0:0.0:1.0:0.0	.	90;90	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	V	90	ENSP00000319785:A90V;ENSP00000297737:A90V;ENSP00000428423:A90V	ENSP00000297737:A90V	A	-	2	0	ZMAT4	40674001	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	9.258000	0.95555	2.941000	0.99782	0.655000	0.94253	GCC		0.498	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
GINS4	84296	broad.mit.edu	37	8	41397438	41397438	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:41397438C>A	ENST00000276533.3	+	6	609	c.399C>A	c.(397-399)ttC>ttA	p.F133L	GINS4_ENST00000518671.1_Missense_Mutation_p.F133L|GINS4_ENST00000523277.2_Missense_Mutation_p.F133L|RP11-360L9.7_ENST00000578500.1_RNA|RP11-360L9.7_ENST00000524133.1_RNA|RP11-360L9.4_ENST00000523081.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	133					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTTTCAGGTTCATGGCGAACA	0.522																																					p.F133L												.	.	0			c.C399A	8						.						108.0	94.0	99.0					8																	41397438		2203	4300	6503	41516595	SO:0001583	missense	84296	exon6			BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.399C>A	8.37:g.41397438C>A	ENSP00000276533:p.Phe133Leu		41516595	NM_032336	B2R8H5|D3DSY0|Q8N648	Missense_Mutation	SNP	ENST00000276533.3	37	CCDS6116.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630888	0.28978	.	.	ENSG00000147536	ENST00000276533;ENST00000518671;ENST00000523277	.	.	.	6.07	4.03	0.46877	.	0.108661	0.64402	D	0.000004	T	0.26521	0.0648	N	0.11927	0.2	0.32956	D	0.520418	B	0.17268	0.021	B	0.08055	0.003	T	0.24476	-1.0159	9	0.21540	T	0.41	-8.2468	9.3337	0.38038	0.0:0.7316:0.0:0.2684	.	133	Q9BRT9	SLD5_HUMAN	L	133	.	ENSP00000276533:F133L	F	+	3	2	GINS4	41516595	0.995000	0.38212	1.000000	0.80357	0.299000	0.27559	0.460000	0.21924	0.682000	0.31407	0.655000	0.94253	TTC		0.522	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377150.1	NM_032336	
ANK1	286	broad.mit.edu	37	8	41547811	41547811	+	Silent	SNP	C	C	T	rs199719745		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:41547811C>T	ENST00000347528.4	-	33	4121	c.4038G>A	c.(4036-4038)gcG>gcA	p.A1346A	ANK1_ENST00000265709.8_Silent_p.A1387A|ANK1_ENST00000352337.4_Silent_p.A1346A|ANK1_ENST00000396945.1_Silent_p.A1346A|ANK1_ENST00000289734.7_Silent_p.A1346A|ANK1_ENST00000396942.1_Silent_p.A1346A|ANK1_ENST00000379758.2_Silent_p.A1346A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1346	UPA domain. {ECO:0000250}.				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.A1346A(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)			CGTACTTCATCGCCTTGCGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0				p.A1346A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4038A	8						.						138.0	114.0	122.0					8																	41547811		2203	4300	6503	41666968	SO:0001819	synonymous_variant	286	exon33			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.4038G>A	8.37:g.41547811C>T			41666968	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.02	1.235699	0.22626	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.08	-6.44	0.01920	.	.	.	.	.	T	0.53546	0.1803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57306	-0.7834	4	.	.	.	.	11.7964	0.52102	0.0:0.2077:0.554:0.2383	.	.	.	.	N	668	.	.	D	-	1	0	ANK1	41666968	0.822000	0.29219	0.516000	0.27786	0.952000	0.60782	-0.145000	0.10265	-1.867000	0.01144	-0.302000	0.09304	GAT		0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
AP3M2	10947	broad.mit.edu	37	8	42015607	42015607	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:42015607G>A	ENST00000518421.1	+	4	713	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	AP3M2_ENST00000174653.3_Missense_Mutation_p.R141Q|AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000517922.1_Missense_Mutation_p.R141Q|AP3M2_ENST00000396926.3_Missense_Mutation_p.R141Q	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	141					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)		p.R141Q(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCATCCTTCGAACGGTTGTC	0.468																																					p.R141Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422A	8						.						111.0	103.0	106.0					8																	42015607		2203	4300	6503	42134764	SO:0001583	missense	10947	exon4			D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	ENST00000518421.1:c.422G>A	8.37:g.42015607G>A	ENSP00000428787:p.Arg141Gln		42134764	NM_001134296	B2RCR0|D3DSY2|Q7Z472	Missense_Mutation	SNP	ENST00000518421.1	37	CCDS6125.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535738	0.85812	.	.	ENSG00000070718	ENST00000518421;ENST00000174653;ENST00000396926;ENST00000521280;ENST00000517922;ENST00000517499	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-0.99;-1.01	4.79	4.79	0.61399	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.52126	1.63	0.80722	D	1	B;P	0.48294	0.403;0.908	B;B	0.36378	0.042;0.223	T	0.76208	-0.3043	10	0.46703	T	0.11	-10.2754	18.2325	0.89938	0.0:0.0:1.0:0.0	.	141;141	E7ER80;P53677	.;AP3M2_HUMAN	Q	141;141;141;26;141;50	ENSP00000428787:R141Q;ENSP00000174653:R141Q;ENSP00000380132:R141Q;ENSP00000430616:R26Q;ENSP00000429435:R141Q	ENSP00000174653:R141Q	R	+	2	0	AP3M2	42134764	1.000000	0.71417	0.906000	0.35671	0.970000	0.65996	9.330000	0.96422	2.363000	0.80096	0.650000	0.86243	CGA		0.468	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1		
CHRNB3	1142	broad.mit.edu	37	8	42586936	42586936	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:42586936C>T	ENST00000289957.2	+	5	614	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	162					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.F162F(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)	TTTTCCCGTTCGACCGACAGA	0.478																																					p.F162F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	8						.						67.0	52.0	57.0					8																	42586936		2203	4300	6503	42706093	SO:0001819	synonymous_variant	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.486C>T	8.37:g.42586936C>T			42706093	NM_000749	Q15827	Silent	SNP	ENST00000289957.2	37	CCDS6134.1																																																																																				0.478	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1		
CHRNA6	8973	broad.mit.edu	37	8	42611452	42611452	+	Missense_Mutation	SNP	G	G	T	rs371233399		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:42611452G>T	ENST00000276410.2	-	5	1245	c.890C>A	c.(889-891)tCt>tAt	p.S297Y	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.S282Y	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	297					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.S297Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GACCACCAGAGATGTGGATGG	0.483																																					p.S297Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C890A	8						.	G	TYR/SER,TYR/SER	0,4406		0,0,2203	95.0	81.0	86.0		845,890	6.0	0.5	8		86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHRNA6	NM_001199279.1,NM_004198.3	144,144	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	282/480,297/495	42611452	1,13005	2203	4300	6503	42730609	SO:0001583	missense	8973	exon5			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.890C>A	8.37:g.42611452G>T	ENSP00000276410:p.Ser297Tyr		42730609	NM_004198	B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925946	0.73327	0.0	1.16E-4	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.93488	-3.23;-3.23	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	282;297	B4DQH1;Q15825	.;ACHA6_HUMAN	Y	297;282	ENSP00000276410:S297Y;ENSP00000433871:S282Y	ENSP00000276410:S297Y	S	-	2	0	CHRNA6	42730609	1.000000	0.71417	0.549000	0.28204	0.521000	0.34408	9.776000	0.99001	2.828000	0.97474	0.655000	0.94253	TCT		0.483	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
SNAI2	6591	broad.mit.edu	37	8	49832658	49832658	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:49832658G>A	ENST00000396822.1	-	3	779	c.422C>T	c.(421-423)tCt>tTt	p.S141F	SNAI2_ENST00000020945.1_Missense_Mutation_p.S141F			O43623	SNAI2_HUMAN	snail family zinc finger 2	141					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S141F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGCCAGCCCAGAAAAAGTTGA	0.453																																					p.S141F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C422T	8						.						102.0	103.0	103.0					8																	49832658		2203	4300	6503	49995211	SO:0001583	missense	6591	exon2			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.422C>T	8.37:g.49832658G>A	ENSP00000380034:p.Ser141Phe		49995211	NM_003068	B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075577	0.76415	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.32023	1.47;1.47	5.38	5.38	0.77491	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	0.48660	0.1512	L	0.53780	1.695	0.80722	D	1	P	0.52463	0.953	P	0.56865	0.808	T	0.48103	-0.9064	10	0.87932	D	0	-14.4802	19.1193	0.93355	0.0:0.0:1.0:0.0	.	141	O43623	SNAI2_HUMAN	F	141	ENSP00000020945:S141F;ENSP00000380034:S141F	ENSP00000020945:S141F	S	-	2	0	SNAI2	49995211	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.475000	0.81041	2.516000	0.84829	0.561000	0.74099	TCT		0.453	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	
MTFR1	9650	broad.mit.edu	37	8	66619478	66619478	+	Missense_Mutation	SNP	C	C	T	rs200858272		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:66619478C>T	ENST00000262146.4	+	6	877	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.R218W	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	251	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.R251W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGTAAAACTTCGGTCAGTGAA	0.373																																					p.R218W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C652T	8						.						87.0	84.0	85.0					8																	66619478		2203	4300	6503	66782032	SO:0001583	missense	9650	exon4				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.751C>T	8.37:g.66619478C>T	ENSP00000262146:p.Arg251Trp		66782032	NM_001145838	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.804627|4.804627	0.90623|0.90623	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247|ENST00000527155	T;T;T|.	0.56275|.	0.47;0.47;0.47|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85470|0.85470	0.5704|0.5704	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0|.	D|D	0.87972|0.87972	0.2737|0.2737	10|5	0.87932|.	D|.	0|.	0.0167|0.0167	19.1023|19.1023	0.93279|0.93279	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	251;235;218;251|.	B4E3G8;E5RJS5;E7EP84;Q15390|.	.;.;.;MTFR1_HUMAN|.	W|L	235;251;218;67|64	ENSP00000262146:R251W;ENSP00000391502:R218W;ENSP00000429253:R67W|.	ENSP00000262146:R251W|.	R|S	+|+	1|2	2|0	MTFR1|MTFR1	66782032|66782032	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.694000|6.694000	0.74587|0.74587	2.504000|2.504000	0.84457|0.84457	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.373	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	
DNAJC5B	85479	broad.mit.edu	37	8	66963834	66963834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:66963834G>T	ENST00000276570.5	+	3	339	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	18						membrane (GO:0016020)		p.E18*(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)			AACAACAGGAGAAGCTCTATA	0.398																																					p.E18X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G52T	8						.						137.0	127.0	131.0					8																	66963834		2203	4300	6503	67126388	SO:0001587	stop_gained	85479	exon3			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.52G>T	8.37:g.66963834G>T	ENSP00000276570:p.Glu18*		67126388	NM_033105	Q969Y8	Nonsense_Mutation	SNP	ENST00000276570.5	37	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	39	7.292490	0.98192	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	.	.	.	5.88	5.01	0.66863	.	0.060237	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	13.0001	0.58670	0.0754:0.0:0.9246:0.0	.	.	.	.	X	18	.	ENSP00000276570:E18X	E	+	1	0	DNAJC5B	67126388	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.644000	0.54381	1.501000	0.48654	0.563000	0.77884	GAA		0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
TRIM55	84675	broad.mit.edu	37	8	67062668	67062668	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:67062668G>T	ENST00000315962.4	+	7	1325	c.952G>T	c.(952-954)Gaa>Taa	p.E318*	TRIM55_ENST00000353317.5_Nonsense_Mutation_p.E318*|TRIM55_ENST00000276573.7_Nonsense_Mutation_p.E318*|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	318	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E318*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAATAGAGAAGAAAAGATAAT	0.408																																					p.E318X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G952T	8						.						100.0	96.0	98.0					8																	67062668		2203	4300	6503	67225222	SO:0001587	stop_gained	84675	exon7			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.952G>T	8.37:g.67062668G>T	ENSP00000323913:p.Glu318*		67225222	NM_184085	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Nonsense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	38	6.872739	0.97901	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	.	.	.	5.84	5.84	0.93424	.	0.199732	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000276573:E318X	E	+	1	0	TRIM55	67225222	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.365000	0.44196	2.764000	0.94973	0.650000	0.86243	GAA		0.408	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
ARFGEF1	10565	broad.mit.edu	37	8	68178266	68178266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:68178266C>A	ENST00000262215.3	-	14	2487	c.2098G>T	c.(2098-2100)Gaa>Taa	p.E700*	ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.E154*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	700					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.E700*(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)			TCTATTATTTCTTTTTGTTGC	0.408																																					p.E700X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2098T	8						.						128.0	118.0	121.0					8																	68178266		2203	4300	6503	68340820	SO:0001587	stop_gained	10565	exon14			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.2098G>T	8.37:g.68178266C>A	ENSP00000262215:p.Glu700*		68340820	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	44	11.046626	0.99507	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.3684	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	X	154;700	.	ENSP00000262215:E700X	E	-	1	0	ARFGEF1	68340820	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.743000	0.85020	2.591000	0.87537	0.585000	0.79938	GAA		0.408	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
CPA6	57094	broad.mit.edu	37	8	68334861	68334861	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:68334861C>T	ENST00000297770.4	-	11	1407	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CPA6_ENST00000297769.4_Missense_Mutation_p.E154K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	398						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E398K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TCACGTAGTTCGAAAGCAAAT	0.383																																					p.E398K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	8						.						130.0	130.0	130.0					8																	68334861		2203	4300	6503	68497415	SO:0001583	missense	57094	exon11			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.1192G>A	8.37:g.68334861C>T	ENSP00000297770:p.Glu398Lys		68497415	NM_020361	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	ENST00000297770.4	37	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151144	0.78001	.	.	ENSG00000165078	ENST00000297769;ENST00000297770	T;T	0.59364	0.27;0.27	5.86	4.99	0.66335	Peptidase M14, carboxypeptidase A (2);	0.049117	0.85682	N	0.000000	T	0.75539	0.3863	M	0.75150	2.29	0.33097	D	0.538687	P;D	0.89917	0.842;1.0	B;D	0.97110	0.214;1.0	D	0.84068	0.0378	10	0.72032	D	0.01	.	14.9884	0.71365	0.0:0.9318:0.0:0.0682	.	154;398	Q8N4T0-3;Q8N4T0	.;CBPA6_HUMAN	K	154;398	ENSP00000297769:E154K;ENSP00000297770:E398K	ENSP00000297769:E154K	E	-	1	0	CPA6	68497415	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.464000	0.80887	1.486000	0.48398	0.591000	0.81541	GAA		0.383	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361	
NCOA2	10499	broad.mit.edu	37	8	71056898	71056898	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:71056898T>G	ENST00000452400.2	-	13	2972	c.2791A>C	c.(2791-2793)Aat>Cat	p.N931H	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	931					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.N931H(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)			TTCCCTAAATTTCCTTGGTTT	0.408			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																p.N931H			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2791C	8						.						171.0	151.0	158.0					8																	71056898		1886	4124	6010	71219452	SO:0001583	missense	10499	exon13			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.2791A>C	8.37:g.71056898T>G	ENSP00000399968:p.Asn931His		71219452	NM_006540	Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757600	0.49468	.	.	ENSG00000140396	ENST00000452400	T	0.01725	4.67	5.48	5.48	0.80851	.	0.245147	0.48767	D	0.000176	T	0.01870	0.0059	L	0.29908	0.895	0.80722	D	1	P	0.44877	0.845	B	0.37601	0.254	T	0.63773	-0.6561	10	0.66056	D	0.02	.	11.6735	0.51417	0.0:0.0706:0.0:0.9294	.	931	Q15596	NCOA2_HUMAN	H	931	ENSP00000399968:N931H	ENSP00000399968:N931H	N	-	1	0	NCOA2	71219452	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.232000	0.32636	2.307000	0.77673	0.528000	0.53228	AAT		0.408	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
ZFHX4	79776	broad.mit.edu	37	8	77616716	77616716	+	Silent	SNP	C	C	T	rs187480056	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:77616716C>T	ENST00000521891.2	+	2	841	c.393C>T	c.(391-393)atC>atT	p.I131I	ZFHX4_ENST00000518282.1_Silent_p.I131I|ZFHX4_ENST00000455469.2_Silent_p.I131I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.I131I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	131					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.I131I(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)			CAGGGGAGATCGTTTACCAGC	0.493										HNSCC(33;0.089)			C|||	5	0.000998403	0.0	0.0	5008	,	,		21089	0.0		0.0	False		,,,				2504	0.0051				p.I131I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C393T	8						.	C		0,3894		0,0,1947	110.0	108.0	109.0		393	-3.7	1.0	8		109	2,8314		0,2,4156	no	coding-synonymous	ZFHX4	NM_024721.4		0,2,6103	TT,TC,CC		0.0241,0.0,0.0164		131/3617	77616716	2,12208	1947	4158	6105	77779271	SO:0001819	synonymous_variant	79776	exon2				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.393C>T	8.37:g.77616716C>T			77779271	NM_024721	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77768012	77768012	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:77768012G>A	ENST00000521891.2	+	10	9303	c.8855G>A	c.(8854-8856)cGa>cAa	p.R2952Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2926Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2907Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2907Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2907					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.R2936Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGACTACCGAACTCCAACC	0.448										HNSCC(33;0.089)																											p.R2952Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8855A	8						.						63.0	62.0	62.0					8																	77768012		1977	4155	6132	77930567	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8855G>A	8.37:g.77768012G>A	ENSP00000430497:p.Arg2952Gln		77930567	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514880	0.64634	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.37530	U	0.002043	D	0.96719	0.8929	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.79784	0.993;0.988;0.982	D	0.97551	1.0092	10	0.72032	D	0.01	.	18.8924	0.92410	0.0:0.0:1.0:0.0	.	2907;2907;2952	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	2952;2936;2907;2907;2926	ENSP00000430497:R2952Q;ENSP00000399605:R2907Q;ENSP00000050961:R2907Q;ENSP00000430848:R2926Q	ENSP00000050961:R2907Q	R	+	2	0	ZFHX4	77930567	1.000000	0.71417	0.994000	0.49952	0.726000	0.41606	9.591000	0.98241	2.696000	0.92011	0.655000	0.94253	CGA		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
SLC7A13	157724	broad.mit.edu	37	8	87242174	87242174	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:87242174T>G	ENST00000297524.3	-	1	436	c.333A>C	c.(331-333)caA>caC	p.Q111H	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.Q111H	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	111						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.Q111H(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						GGAGCAGAGCTTGGCCAGCAA	0.483																																					p.Q111H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A333C	8						.						65.0	63.0	64.0					8																	87242174		2203	4300	6503	87311290	SO:0001583	missense	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.333A>C	8.37:g.87242174T>G	ENSP00000297524:p.Gln111His		87311290	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	0.794	-0.757804	0.03019	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89681	-2.55;-2.55	4.33	0.223	0.15292	Amino acid permease domain (1);	0.384600	0.22159	N	0.063802	D	0.83335	0.5232	L	0.52759	1.655	0.09310	N	1	B;P	0.43826	0.355;0.818	B;B	0.43508	0.144;0.422	T	0.75297	-0.3367	10	0.66056	D	0.02	.	3.8081	0.08786	0.1566:0.1973:0.0:0.6461	.	111;111	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	H	111	ENSP00000297524:Q111H;ENSP00000410982:Q111H	ENSP00000297524:Q111H	Q	-	3	2	SLC7A13	87311290	1.000000	0.71417	0.013000	0.15412	0.063000	0.16089	1.154000	0.31688	-0.042000	0.13535	0.421000	0.28195	CAA		0.483	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
DCAF4L2	138009	broad.mit.edu	37	8	88885814	88885814	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:88885814G>T	ENST00000319675.3	-	1	482	c.386C>A	c.(385-387)tCt>tAt	p.S129Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	129								p.S129Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGCACATAGAATTCACCTT	0.572																																					p.S129Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386A	8						.						114.0	108.0	110.0					8																	88885814		2203	4300	6503	88954930	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.386C>A	8.37:g.88885814G>T	ENSP00000316496:p.Ser129Tyr		88954930	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602655	0.46423	.	.	ENSG00000176566	ENST00000319675	T	0.73152	-0.72	1.39	1.39	0.22231	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.199369	0.56097	D	0.000036	T	0.75027	0.3794	M	0.68952	2.095	0.36901	D	0.890417	D	0.60160	0.987	D	0.63033	0.91	T	0.75733	-0.3214	10	0.72032	D	0.01	.	3.7503	0.08563	0.2516:0.0:0.7484:0.0	.	129	Q8NA75	DC4L2_HUMAN	Y	129	ENSP00000316496:S129Y	ENSP00000316496:S129Y	S	-	2	0	DCAF4L2	88954930	1.000000	0.71417	0.031000	0.17742	0.020000	0.10135	3.073000	0.50057	0.750000	0.32877	0.467000	0.42956	TCT		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
TMEM64	169200	broad.mit.edu	37	8	91638050	91638050	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:91638050C>T	ENST00000458549.2	-	3	1169	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	TMEM64_ENST00000418210.2_Missense_Mutation_p.R279Q|TMEM64_ENST00000519519.1_Missense_Mutation_p.R70Q	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	331					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R137Q(1)		endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CACTTGAGCTCGATGAACTAC	0.303																																					p.R279Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G836A	8						.						78.0	73.0	75.0					8																	91638050		2203	4300	6503	91707226	SO:0001583	missense	169200	exon2			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.992G>A	8.37:g.91638050C>T	ENSP00000414786:p.Arg331Gln		91707226	NM_001146273	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584777	0.86748	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900;ENST00000519519	.	.	.	5.78	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.73598	2.24	0.80722	D	1	D;P;D	0.61697	0.99;0.933;0.983	P;B;P	0.50825	0.651;0.344;0.548	T	0.68819	-0.5308	9	0.40728	T	0.16	.	14.6796	0.69006	0.0:0.9304:0.0:0.0695	.	279;70;331	F5GXM4;Q6YI46-2;Q6YI46	.;.;TMM64_HUMAN	Q	331;279;148;70	.	ENSP00000411951:R279Q	R	-	2	0	TMEM64	91707226	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	1.454000	0.47793	0.655000	0.94253	CGA		0.303	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495	
TMEM55A	55529	broad.mit.edu	37	8	92008946	92008946	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:92008946C>T	ENST00000285419.3	-	6	880	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	189						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.R189Q(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCAGCGTCTTCGTGGAAGTGC	0.358																																					p.R189Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G566A	8						.						69.0	61.0	64.0					8																	92008946		2203	4300	6503	92078122	SO:0001583	missense	55529	exon6			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.566G>A	8.37:g.92008946C>T	ENSP00000285419:p.Arg189Gln		92078122	NM_018710	B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	36	5.896146	0.97081	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.75639	-0.3248	9	0.62326	D	0.03	-21.4811	20.4008	0.98991	0.0:1.0:0.0:0.0	.	189	Q8N4L2	TM55A_HUMAN	Q	189;195	.	ENSP00000285419:R189Q	R	-	2	0	TMEM55A	92078122	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	CGA		0.358	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710	
RUNX1T1	862	broad.mit.edu	37	8	92998376	92998376	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:92998376C>T	ENST00000523629.1	-	9	1709	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	419					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V419I(1)|p.V382I(1)|p.V430I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGGGTTGACGGGACTCTGC	0.453																																					p.V419I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1255A	8						.						108.0	116.0	113.0					8																	92998376		2203	4300	6503	93067552	SO:0001583	missense	862	exon10			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1255G>A	8.37:g.92998376C>T	ENSP00000428543:p.Val419Ile		93067552	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998890	0.54147	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.30182	1.55;1.55;1.55;1.55;1.55;1.55;1.54;1.55	5.67	4.76	0.60689	.	0.226064	0.45606	N	0.000357	T	0.16428	0.0395	N	0.08118	0	0.50813	D	0.999899	B;B;B	0.31519	0.327;0.318;0.301	B;B;B	0.25987	0.048;0.048;0.065	T	0.06625	-1.0816	10	0.37606	T	0.19	-11.7341	13.7947	0.63164	0.0:0.9239:0.0:0.0761	.	430;419;392	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	I	419;392;419;382;382;382;430;392	ENSP00000428543:V419I;ENSP00000379520:V392I;ENSP00000265814:V419I;ENSP00000353504:V382I;ENSP00000390137:V382I;ENSP00000428742:V382I;ENSP00000402257:V430I;ENSP00000430728:V392I	ENSP00000265814:V419I	V	-	1	0	RUNX1T1	93067552	1.000000	0.71417	0.884000	0.34674	0.976000	0.68499	5.571000	0.67404	1.334000	0.45468	0.655000	0.94253	GTC		0.453	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
RBM12B	389677	broad.mit.edu	37	8	94748488	94748488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:94748488C>A	ENST00000399300.2	-	3	364	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E51*|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	51							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E51*(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)			CTTGCATCTTCATCTGTTGCA	0.418																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	8						.						122.0	116.0	118.0					8																	94748488		1814	4094	5908	94817664	SO:0001587	stop_gained	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.151G>T	8.37:g.94748488C>A	ENSP00000382239:p.Glu51*		94817664	NM_203390	A8MYB5	Nonsense_Mutation	SNP	ENST00000399300.2	37	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354026	0.82243	.	.	ENSG00000183808	ENST00000399300;ENST00000517700;ENST00000519109;ENST00000518597;ENST00000520560;ENST00000521947	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.0498	19.4609	0.94916	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000382239:E51X	E	-	1	0	RBM12B	94817664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	2.688000	0.91661	0.655000	0.94253	GAA		0.418	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390	
PTDSS1	9791	broad.mit.edu	37	8	97332520	97332520	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:97332520G>A	ENST00000517309.1	+	10	1446	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	PTDSS1_ENST00000522072.1_Missense_Mutation_p.D171N|PTDSS1_ENST00000455950.2_Missense_Mutation_p.D228N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	374					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.D374N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ATTTGGACAAGATCTCTTCTC	0.393																																					p.D374N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1120A	8						.						269.0	251.0	257.0					8																	97332520		2203	4300	6503	97401696	SO:0001583	missense	9791	exon10			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1120G>A	8.37:g.97332520G>A	ENSP00000430548:p.Asp374Asn		97401696	NM_014754	E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137978	0.77775	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.44482	0.97;0.95;0.92	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.50333	1.59	0.80722	D	1	B	0.29766	0.256	B	0.38296	0.27	T	0.22487	-1.0215	10	0.19590	T	0.45	-17.7802	16.1835	0.81929	0.0:0.0:1.0:0.0	.	374	P48651	PTSS1_HUMAN	N	374;228;171	ENSP00000430548:D374N;ENSP00000401248:D228N;ENSP00000430928:D171N	ENSP00000401248:D228N	D	+	1	0	PTDSS1	97401696	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.491000	0.90468	2.553000	0.86117	0.585000	0.79938	GAT		0.393	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
CPQ	10404	broad.mit.edu	37	8	97797217	97797217	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:97797217G>T	ENST00000220763.5	+	2	302	c.92G>T	c.(91-93)aGg>aTg	p.R31M		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	31					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.R31M(1)									ATCTCTAAGAGGACTTTTGAA	0.383																																					p.R31M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G92T	8						.						93.0	95.0	94.0					8																	97797217		2203	4300	6503	97866393	SO:0001583	missense	10404	exon2			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.92G>T	8.37:g.97797217G>T	ENSP00000220763:p.Arg31Met		97866393	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794088	0.31777	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.48201	0.82;0.83	5.28	0.103	0.14526	.	0.838495	0.10774	N	0.635674	T	0.35624	0.0938	L	0.44542	1.39	0.09310	N	1	P;P	0.48640	0.913;0.845	B;B	0.40741	0.339;0.174	T	0.22556	-1.0213	10	0.51188	T	0.08	-5.5887	6.1142	0.20117	0.3871:0.1363:0.4766:0.0	.	31;31	B5MDX4;Q9Y646	.;PGCP_HUMAN	M	31	ENSP00000220763:R31M;ENSP00000429146:R31M	ENSP00000220763:R31M	R	+	2	0	AC010859.1	97866393	0.000000	0.05858	0.237000	0.24090	0.818000	0.46254	0.057000	0.14279	0.449000	0.26747	0.563000	0.77884	AGG		0.383	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
CPQ	10404	broad.mit.edu	37	8	97797528	97797528	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:97797528C>A	ENST00000220763.5	+	2	613	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	135					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.L135I(1)									CATCCTGGGTCTTGGCAGCAG	0.438																																					p.L135I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	8						.						64.0	68.0	67.0					8																	97797528		2203	4300	6503	97866704	SO:0001583	missense	10404	exon2			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.403C>A	8.37:g.97797528C>A	ENSP00000220763:p.Leu135Ile		97866704	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278051	0.59758	.	.	ENSG00000104324	ENST00000220763;ENST00000517742;ENST00000519484	T;T	0.72615	0.34;-0.67	5.35	4.46	0.54185	.	0.000000	0.64402	D	0.000001	D	0.84543	0.5495	M	0.85542	2.76	0.44798	D	0.9978	D;D	0.89917	0.99;1.0	D;D	0.91635	0.968;0.999	D	0.86253	0.1650	10	0.62326	D	0.03	-12.4642	13.784	0.63099	0.0:0.9259:0.0:0.0741	.	135;135	B5MDX4;Q9Y646	.;PGCP_HUMAN	I	135	ENSP00000220763:L135I;ENSP00000429146:L135I	ENSP00000220763:L135I	L	+	1	0	AC010859.1	97866704	0.963000	0.33076	0.952000	0.39060	0.113000	0.19764	2.198000	0.42705	2.667000	0.90743	0.655000	0.94253	CTT		0.438	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
MATN2	4147	broad.mit.edu	37	8	99019810	99019810	+	Silent	SNP	C	C	T	rs370974462		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:99019810C>T	ENST00000520016.1	+	9	1678	c.1554C>T	c.(1552-1554)agC>agT	p.S518S	MATN2_ENST00000254898.5_Silent_p.S518S|MATN2_ENST00000521689.1_Silent_p.S518S|MATN2_ENST00000524308.1_Silent_p.S477S|MATN2_ENST00000522025.2_Silent_p.S234S			O00339	MATN2_HUMAN	matrilin 2	518	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S518S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGCTCCGCAGCGATGGGAAGA	0.557																																					p.S518S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1554T	8						.	C	,	1,4299		0,1,2149	138.0	134.0	136.0		1554,1554	-3.1	1.0	8		136	4,8502		0,4,4249	no	coding-synonymous,coding-synonymous	MATN2	NM_002380.3,NM_030583.2	,	0,5,6398	TT,TC,CC		0.047,0.0233,0.039	,	518/957,518/938	99019810	5,12801	2150	4253	6403	99088986	SO:0001819	synonymous_variant	4147	exon10			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.1554C>T	8.37:g.99019810C>T			99088986	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858472	0.17178	2.33E-4	4.7E-4	ENSG00000132561	ENST00000518154	.	.	.	5.65	-3.14	0.05250	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.0497	7.1079	0.25374	0.0:0.488:0.1411:0.3709	.	.	.	.	X	301	.	.	R	+	1	2	MATN2	99088986	0.001000	0.12720	0.956000	0.39512	0.778000	0.44026	-1.459000	0.02370	-0.828000	0.04273	-0.768000	0.03414	CGA		0.557	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
ERICH5	203111	broad.mit.edu	37	8	99101554	99101554	+	Missense_Mutation	SNP	G	G	T	rs35339824	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:99101554G>T	ENST00000318528.3	+	2	668	c.309G>T	c.(307-309)aaG>aaT	p.K103N	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		103								p.K103N(1)		kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCACAGAAAAGACTCAGCCTG	0.567																																					p.K103N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G309T	8						.						65.0	70.0	68.0					8																	99101554		2203	4300	6503	99170730	SO:0001583	missense	203111	exon2																														ENST00000318528.3:c.309G>T	8.37:g.99101554G>T	ENSP00000315614:p.Lys103Asn		99170730	NM_173549	G3V1K4|Q8N1L8	Missense_Mutation	SNP	ENST00000318528.3	37	CCDS34929.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631856	0.46944	.	.	ENSG00000177459	ENST00000318528	T	0.45276	0.9	5.08	0.114	0.14639	.	1.125910	0.06640	N	0.760906	T	0.35038	0.0918	L	0.43152	1.355	0.09310	N	1	P	0.49358	0.923	P	0.46110	0.504	T	0.24905	-1.0147	10	0.52906	T	0.07	-12.3132	0.7336	0.00961	0.2932:0.1651:0.3721:0.1696	.	103	Q6P6B1	CH047_HUMAN	N	103	ENSP00000315614:K103N	ENSP00000315614:K103N	K	+	3	2	C8orf47	99170730	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.166000	0.09954	0.097000	0.17492	0.655000	0.94253	AAG		0.567	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380465.1		
POP1	10940	broad.mit.edu	37	8	99153060	99153060	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:99153060G>A	ENST00000401707.2	+	11	1619	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	POP1_ENST00000349693.3_Missense_Mutation_p.R513Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	513					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.R513Q(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGGGATCCTCGAATAAATTTG	0.408																																					p.R513Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538A	8						.						82.0	85.0	84.0					8																	99153060		2203	4300	6503	99222236	SO:0001583	missense	10940	exon11			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1538G>A	8.37:g.99153060G>A	ENSP00000385787:p.Arg513Gln		99222236	NM_001145860	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527654	0.85706	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.74947	-0.89;-0.89	5.7	5.7	0.88788	.	0.069249	0.56097	D	0.000025	T	0.76659	0.4018	M	0.84326	2.69	0.80722	D	1	D	0.56968	0.978	B	0.39152	0.292	T	0.82520	-0.0416	10	0.66056	D	0.02	-13.9927	18.0753	0.89425	0.0:0.0:1.0:0.0	.	513	Q99575	POP1_HUMAN	Q	513	ENSP00000385787:R513Q;ENSP00000339529:R513Q	ENSP00000339529:R513Q	R	+	2	0	POP1	99222236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.200000	0.95010	2.705000	0.92388	0.650000	0.86243	CGA		0.408	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
POP1	10940	broad.mit.edu	37	8	99168622	99168622	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:99168622G>A	ENST00000401707.2	+	15	2483	c.2402G>A	c.(2401-2403)aGt>aAt	p.S801N	POP1_ENST00000349693.3_Missense_Mutation_p.S801N	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	801					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)	p.S801N(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GCCACAGGGAGTCACCTCTGC	0.488																																					p.S801N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2402A	8						.						114.0	113.0	113.0					8																	99168622		2203	4300	6503	99237798	SO:0001583	missense	10940	exon15			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2402G>A	8.37:g.99168622G>A	ENSP00000385787:p.Ser801Asn		99237798	NM_001145860	A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433653	0.25813	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.37752	1.18;1.18	5.56	1.74	0.24563	.	1.491850	0.03536	N	0.223257	T	0.36635	0.0974	M	0.69823	2.125	0.09310	N	1	B	0.28128	0.201	B	0.27608	0.081	T	0.14699	-1.0463	10	0.17832	T	0.49	-5.3991	4.904	0.13789	0.322:0.1454:0.5326:0.0	.	801	Q99575	POP1_HUMAN	N	801	ENSP00000385787:S801N;ENSP00000339529:S801N	ENSP00000339529:S801N	S	+	2	0	POP1	99237798	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.554000	0.23407	0.035000	0.15519	-0.218000	0.12543	AGT		0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029	
KCNS2	3788	broad.mit.edu	37	8	99440435	99440435	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:99440435G>T	ENST00000287042.4	+	2	578	c.228G>T	c.(226-228)gaG>gaT	p.E76D	KCNS2_ENST00000521839.1_Missense_Mutation_p.E76D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	76					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)	p.E76D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCAACCCTGAGCTCTTCCCCT	0.587																																					p.E76D	Pancreas(138;844 2489 9202 24627)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G228T	8						.						133.0	103.0	113.0					8																	99440435		2203	4300	6503	99509611	SO:0001583	missense	3788	exon2			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.228G>T	8.37:g.99440435G>T	ENSP00000287042:p.Glu76Asp		99509611	NM_020697	A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	g	11.64	1.698409	0.30142	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.76578	-1.03;-1.03	5.4	2.61	0.31194	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.366030	0.27936	N	0.017253	T	0.54303	0.1850	N	0.11698	0.16	0.26512	N	0.974578	B	0.22414	0.069	B	0.19391	0.025	T	0.36016	-0.9765	10	0.21540	T	0.41	.	5.8836	0.18868	0.2669:0.138:0.5951:0.0	.	76	Q9ULS6	KCNS2_HUMAN	D	76	ENSP00000287042:E76D;ENSP00000430712:E76D	ENSP00000287042:E76D	E	+	3	2	KCNS2	99509611	0.997000	0.39634	1.000000	0.80357	0.982000	0.71751	0.364000	0.20325	1.281000	0.44480	0.558000	0.71614	GAG		0.587	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
ZNF7	7553	broad.mit.edu	37	8	146068068	146068068	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:146068068G>A	ENST00000528372.1	+	5	1816	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.E537K|ZNF7_ENST00000544249.1_Missense_Mutation_p.E430K|ZNF7_ENST00000325241.6_Missense_Mutation_p.E526K			P17097	ZNF7_HUMAN	zinc finger protein 7	526					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.E526K(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)		GAAGCCCTACGAATGCCTCCA	0.443																																					p.E526K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1576A	8						.						82.0	88.0	86.0					8																	146068068		2203	4300	6503	146038872	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.1576G>A	8.37:g.146068068G>A	ENSP00000432724:p.Glu526Lys		146038872	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708122	0.48412	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	4.75	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143577	0.32444	N	0.006095	T	0.06096	0.0158	N	0.01464	-0.85	0.09310	N	0.999999	B;B	0.17465	0.022;0.022	B;B	0.15484	0.013;0.013	T	0.39781	-0.9597	9	.	.	.	-16.5637	7.3618	0.26750	0.4283:0.0:0.5717:0.0	.	537;526	B4DT08;P17097	.;ZNF7_HUMAN	K	526;537;430;526	ENSP00000320627:E526K;ENSP00000393260:E537K;ENSP00000439424:E430K;ENSP00000432724:E526K	.	E	+	1	0	ZNF7	146038872	0.000000	0.05858	0.284000	0.24805	0.891000	0.51852	-0.128000	0.10531	0.593000	0.29745	0.655000	0.94253	GAA		0.443	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
CDC14A	8556	broad.mit.edu	37	1	100819343	100819343	+	Missense_Mutation	SNP	G	G	T	rs532210944		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:100819343G>T	ENST00000336454.3	+	2	430	c.75G>T	c.(73-75)agG>agT	p.R25S	CDC14A_ENST00000361544.6_Missense_Mutation_p.R25S|CDC14A_ENST00000370124.3_Missense_Mutation_p.R25S|CDC14A_ENST00000370125.2_Missense_Mutation_p.R25S|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.R25S	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	25	A.				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.R25S(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)		CTACTTTAAGGAATAGACCAA	0.348																																					p.R25S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G75T	1						.						124.0	108.0	114.0					1																	100819343		2203	4300	6503	100591931	SO:0001583	missense	8556	exon2			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.75G>T	1.37:g.100819343G>T	ENSP00000336739:p.Arg25Ser		100591931	NM_033312	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992695	0.35131	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	L	0.50847	1.595	0.80722	D	1	B;B;B;P;B	0.45672	0.249;0.09;0.249;0.864;0.054	B;B;B;P;B	0.44696	0.131;0.085;0.131;0.458;0.039	T	0.10451	-1.0629	10	0.41790	T	0.15	-13.8031	16.9976	0.86372	0.0:0.0:1.0:0.0	.	25;25;25;25;25	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	S	26;25;25;25;25;25	ENSP00000388501:R26S;ENSP00000359143:R25S;ENSP00000354916:R25S;ENSP00000359142:R25S;ENSP00000336739:R25S;ENSP00000442543:R25S	ENSP00000336739:R25S	R	+	3	2	CDC14A	100591931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	2.399000	0.81585	0.555000	0.69702	AGG		0.348	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	
CDC14A	8556	broad.mit.edu	37	1	100949997	100949997	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:100949997G>A	ENST00000336454.3	+	11	1482	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	CDC14A_ENST00000361544.6_Missense_Mutation_p.R376Q|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370124.3_Missense_Mutation_p.R376Q|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.R318Q|CDC14A_ENST00000544534.1_Missense_Mutation_p.R376Q	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	376					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.R376Q(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)		AACATGGAACGATTTGGAGAG	0.343																																					p.R376Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127A	1						.						78.0	80.0	79.0					1																	100949997		2203	4300	6503	100722585	SO:0001583	missense	8556	exon11			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.1127G>A	1.37:g.100949997G>A	ENSP00000336739:p.Arg376Gln		100722585	NM_033312	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376372	0.42105	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.10192	2.9;2.91;2.93;3.1;2.91	5.65	4.74	0.60224	.	0.102203	0.64402	D	0.000003	T	0.03651	0.0104	L	0.54323	1.7	0.40055	D	0.975824	P;B;B;B;B	0.37276	0.589;0.107;0.223;0.122;0.018	B;B;B;B;B	0.25987	0.065;0.018;0.017;0.041;0.003	T	0.37820	-0.9689	10	0.19590	T	0.45	-12.5582	11.6993	0.51560	0.0832:0.0:0.9168:0.0	.	318;376;376;376;376	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	Q	318;376;376;376;376	ENSP00000442640:R318Q;ENSP00000354916:R376Q;ENSP00000359142:R376Q;ENSP00000336739:R376Q;ENSP00000442543:R376Q	ENSP00000336739:R376Q	R	+	2	0	CDC14A	100722585	0.999000	0.42202	0.968000	0.41197	0.618000	0.37518	1.806000	0.38892	1.384000	0.46424	0.555000	0.69702	CGA		0.343	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	
VCAM1	7412	broad.mit.edu	37	1	101200232	101200232	+	Missense_Mutation	SNP	G	G	A	rs200879051		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:101200232G>A	ENST00000294728.2	+	8	2068	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	VCAM1_ENST00000370115.1_Missense_Mutation_p.R457Q|VCAM1_ENST00000347652.2_Missense_Mutation_p.R564Q|VCAM1_ENST00000370119.4_Missense_Mutation_p.R594Q	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	656	Ig-like C2-type 7.				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.R656Q(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)	TATACCATCCGAAAGGCCCAG	0.393																																					p.R594Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1781A	1						.						92.0	96.0	95.0					1																	101200232		2203	4300	6503	100972820	SO:0001583	missense	7412	exon8			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.1967G>A	1.37:g.101200232G>A	ENSP00000294728:p.Arg656Gln		100972820	NM_001199834	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.439050	0.12104	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.77	-3.22	0.05125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.857483	0.11060	N	0.604085	T	0.15262	0.0368	L	0.28649	0.875	0.09310	N	1	B;B;B	0.19200	0.002;0.0;0.034	B;B;B	0.14578	0.001;0.001;0.011	T	0.16100	-1.0414	10	0.12430	T	0.62	-0.0142	0.7736	0.01028	0.386:0.1774:0.2446:0.192	.	594;564;656	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	Q	594;564;656;457	ENSP00000359137:R594Q;ENSP00000304611:R564Q;ENSP00000294728:R656Q;ENSP00000359133:R457Q	ENSP00000294728:R656Q	R	+	2	0	VCAM1	100972820	0.000000	0.05858	0.262000	0.24481	0.187000	0.23431	-1.234000	0.02931	-0.386000	0.07821	-0.122000	0.15005	CGA		0.393	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
S1PR1	1901	broad.mit.edu	37	1	101705030	101705030	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:101705030A>G	ENST00000305352.6	+	2	865	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	164					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.I164V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CTTCCTGCTAATCAGCGCCTG	0.567											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A490G	1						.						103.0	96.0	98.0					1																	101705030		2203	4300	6503	101477618	SO:0001583	missense	1901	exon2			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.490A>G	1.37:g.101705030A>G	ENSP00000305416:p.Ile164Val	1360	101477618	NM_001400	D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	CCDS777.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480655	0.63849	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.74421	-0.84	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.048325	0.85682	D	0.000000	T	0.81427	0.4820	M	0.78223	2.4	0.80722	D	1	P	0.45212	0.853	P	0.58266	0.836	D	0.83705	0.0184	10	0.59425	D	0.04	.	15.5483	0.76126	1.0:0.0:0.0:0.0	.	164	P21453	S1PR1_HUMAN	V	164	ENSP00000305416:I164V	ENSP00000305416:I164V	I	+	1	0	S1PR1	101477618	1.000000	0.71417	0.951000	0.38953	0.733000	0.41908	9.227000	0.95236	2.064000	0.61679	0.374000	0.22700	ATC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400	
COL11A1	1301	broad.mit.edu	37	1	103352503	103352503	+	Missense_Mutation	SNP	G	G	A	rs143531636	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:103352503G>A	ENST00000370096.3	-	63	5030	c.4718C>T	c.(4717-4719)tCg>tTg	p.S1573L	COL11A1_ENST00000358392.2_Missense_Mutation_p.S1585L|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1457L|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1534L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1573					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.S1585L(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)		CATTCCATCCGAGTAATCAAG	0.408													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17113	0.0		0.0	False		,,,				2504	0.0				p.S1573L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4718T	1						.	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405		0,1,2202	202.0	188.0	193.0		4370,4754,4718,4601	4.6	0.8	1	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	COL11A1	NM_080630.3,NM_080629.2,NM_001854.3,NM_001190709.1	145,145,145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	1457/1691,1585/1819,1573/1807,1534/1768	103352503	2,13004	2203	4300	6503	103125091	SO:0001583	missense	1301	exon63			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.4718C>T	1.37:g.103352503G>A	ENSP00000359114:p.Ser1573Leu		103125091	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.75	2.629512	0.46944	2.27E-4	1.16E-4	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.88741	-2.36;-2.37;-2.37;-2.42	5.53	4.61	0.57282	.	0.357495	0.29602	N	0.011699	T	0.79358	0.4432	L	0.50333	1.59	0.38231	D	0.941034	B;B;B;B;B	0.26975	0.043;0.072;0.165;0.103;0.021	B;B;B;B;B	0.22152	0.012;0.026;0.038;0.017;0.016	T	0.76881	-0.2795	10	0.35671	T	0.21	.	15.7266	0.77766	0.0:0.0:0.8621:0.1379	.	1457;1534;1585;1573;793	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	1573;1585;1534;793;1457	ENSP00000359114:S1573L;ENSP00000351163:S1585L;ENSP00000302551:S1534L;ENSP00000426533:S1457L	ENSP00000302551:S1534L	S	-	2	0	COL11A1	103125091	0.997000	0.39634	0.802000	0.32245	0.871000	0.50021	4.258000	0.58822	1.325000	0.45301	0.313000	0.20887	TCG		0.408	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
AMY2B	280	broad.mit.edu	37	1	104116508	104116508	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:104116508A>C	ENST00000361355.4	+	6	1308	c.692A>C	c.(691-693)aAt>aCt	p.N231T	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	231					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.N231T(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AAACTGCATAATCTAAACAGT	0.373																																					p.N231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A692C	1						.						173.0	172.0	172.0					1																	104116508		2203	4297	6500	103918031	SO:0001583	missense	280	exon6			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.692A>C	1.37:g.104116508A>C	ENSP00000354610:p.Asn231Thr		103918031	NM_020978	B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180866	0.38511	.	.	ENSG00000240038	ENST00000361355	D	0.98264	-4.83	4.47	4.47	0.54385	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.109676	0.64402	D	0.000011	D	0.96046	0.8712	M	0.74467	2.265	0.58432	D	0.999999	B	0.13145	0.007	B	0.13407	0.009	D	0.95562	0.8630	10	0.56958	D	0.05	.	13.7962	0.63173	1.0:0.0:0.0:0.0	.	231	P19961	AMY2B_HUMAN	T	231	ENSP00000354610:N231T	ENSP00000354610:N231T	N	+	2	0	AMY2B	103918031	1.000000	0.71417	0.996000	0.52242	0.337000	0.28794	6.148000	0.71788	1.662000	0.50781	0.451000	0.29950	AAT		0.373	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
SORT1	6272	broad.mit.edu	37	1	109910090	109910090	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:109910090A>G	ENST00000256637.6	-	3	438	c.380T>C	c.(379-381)tTg>tCg	p.L127S	SORT1_ENST00000482236.1_5'UTR|SORT1_ENST00000538502.1_5'UTR	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	127					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.L127S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GAAGGTAGTCAAGACTAGAAT	0.378																																					p.L127S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T380C	1						.						166.0	164.0	165.0					1																	109910090		2203	4300	6503	109711613	SO:0001583	missense	6272	exon3			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.380T>C	1.37:g.109910090A>G	ENSP00000256637:p.Leu127Ser		109711613	NM_002959	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012068	0.75046	.	.	ENSG00000134243	ENST00000256637	T	0.47528	0.84	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.61887	0.2383	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69003	-0.5260	10	0.87932	D	0	-10.2568	11.7338	0.51752	1.0:0.0:0.0:0.0	.	127	Q99523	SORT_HUMAN	S	127	ENSP00000256637:L127S	ENSP00000256637:L127S	L	-	2	0	SORT1	109711613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.127000	0.71642	2.029000	0.59856	0.477000	0.44152	TTG		0.378	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959	
CSF1	1435	broad.mit.edu	37	1	110466230	110466230	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:110466230A>G	ENST00000329608.6	+	6	1378	c.987A>G	c.(985-987)ggA>ggG	p.G329G	CSF1_ENST00000369801.1_Silent_p.G329G|CSF1_ENST00000344188.5_Silent_p.G329G|CSF1_ENST00000369802.3_Silent_p.G329G|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	329					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|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 cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGCCAGGAGGGGGCAGCA	0.592											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G329G												.	.	0			c.A987G	1						.						50.0	52.0	51.0					1																	110466230		2202	4300	6502	110267753	SO:0001819	synonymous_variant	1435	exon6			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.987A>G	1.37:g.110466230A>G		1427	110267753	NM_172210	A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	CCDS816.1																																																																																				0.592	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757	
MTOR	2475	broad.mit.edu	37	1	11169362	11169362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:11169362G>A	ENST00000361445.4	-	56	7589	c.7513C>T	c.(7513-7515)Cga>Tga	p.R2505*	MTOR_ENST00000376838.1_Nonsense_Mutation_p.R710*	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2505	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.R2505*(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)	AGCTTATCTCGAACCCTGTTA	0.418																																					p.R2505X												FRAP1,kidney,NS,Substitution - Missense,+1	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7513T	1						.						178.0	156.0	164.0					1																	11169362		2203	4300	6503	11091949	SO:0001587	stop_gained	2475	exon56			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.7513C>T	1.37:g.11169362G>A	ENSP00000354558:p.Arg2505*		11091949	NM_004958	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Nonsense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	47	13.841599	0.99766	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	.	.	.	5.82	5.82	0.92795	.	0.072185	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0628	17.2469	0.87030	0.0:0.0:1.0:0.0	.	.	.	.	X	2505;710;161	.	ENSP00000354558:R2505X	R	-	1	2	MTOR	11091949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.866000	0.63005	2.755000	0.94549	0.591000	0.81541	CGA		0.418	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
RBM15	64783	broad.mit.edu	37	1	110883615	110883615	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:110883615G>A	ENST00000369784.3	+	1	2488	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	RBM15_ENST00000602849.1_Missense_Mutation_p.E530K|RBM15_ENST00000487146.2_Missense_Mutation_p.E530K|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	530					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E530K(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCCGACACCGAACATCGTTA	0.562			T	MKL1	acute megakaryocytic leukemia																																p.E530K			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1588A	1						.						83.0	82.0	82.0					1																	110883615		2203	4300	6503	110685138	SO:0001583	missense	64783	exon1			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1588G>A	1.37:g.110883615G>A	ENSP00000358799:p.Glu530Lys		110685138	NM_022768	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061210	0.76187	.	.	ENSG00000162775	ENST00000369784	T	0.22336	1.96	4.44	4.44	0.53790	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.44483	D	0.000444	T	0.18841	0.0452	L	0.57536	1.79	0.80722	D	1	P;D	0.63046	0.88;0.992	B;P	0.45577	0.13;0.486	T	0.03807	-1.1002	10	0.59425	D	0.04	-10.7667	17.2705	0.87101	0.0:0.0:1.0:0.0	.	530;530	Q96T37-3;Q96T37	.;RBM15_HUMAN	K	530	ENSP00000358799:E530K	ENSP00000358799:E530K	E	+	1	0	RBM15	110685138	1.000000	0.71417	0.989000	0.46669	0.754000	0.42855	9.263000	0.95617	2.306000	0.77630	0.655000	0.94253	GAA		0.562	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
KCNA3	3738	broad.mit.edu	37	1	111216003	111216003	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:111216003G>A	ENST00000369769.2	-	1	1652	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	477					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.P477S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	ACAATCACGGGAACTGGCAAT	0.537																																					p.P477S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1429T	1						.						92.0	76.0	82.0					1																	111216003		2203	4300	6503	111017526	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1429C>T	1.37:g.111216003G>A	ENSP00000358784:p.Pro477Ser		111017526	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002086	0.74932	.	.	ENSG00000177272	ENST00000369769	D	0.98419	-4.92	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98855	0.9613	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99872	1.1098	10	0.87932	D	0	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	477	P22001	KCNA3_HUMAN	S	477	ENSP00000358784:P477S	ENSP00000358784:P477S	P	-	1	0	KCNA3	111017526	1.000000	0.71417	0.486000	0.27416	0.889000	0.51656	9.864000	0.99589	2.794000	0.96219	0.655000	0.94253	CCC		0.537	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
SYT6	148281	broad.mit.edu	37	1	114680549	114680549	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:114680549C>A	ENST00000610222.1	-	3	785	c.639G>T	c.(637-639)aaG>aaT	p.K213N	SYT6_ENST00000607941.1_Missense_Mutation_p.K128N|SYT6_ENST00000393296.1_Missense_Mutation_p.K213N|SYT6_ENST00000369547.1_Missense_Mutation_p.K128N|SYT6_ENST00000609117.1_Missense_Mutation_p.K128N			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	213					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.K128N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CCGACTTCTGCTTGTAGAGCT	0.562																																					p.K128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	1						.						108.0	94.0	98.0					1																	114680549		2203	4300	6503	114482072	SO:0001583	missense	148281	exon3				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.639G>T	1.37:g.114680549C>A	ENSP00000476396:p.Lys213Asn		114482072	NM_205848	B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37		.	.	.	.	.	.	.	.	.	.	C	17.82	3.482473	0.63962	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.60672	0.19;0.17;0.19;0.17	5.56	4.65	0.58169	.	0.051709	0.85682	D	0.000000	T	0.62417	0.2426	M	0.81802	2.56	0.54753	D	0.999984	D	0.54772	0.968	P	0.58660	0.843	T	0.69491	-0.5131	10	0.87932	D	0	.	8.7587	0.34661	0.0:0.7219:0.0:0.2781	.	213	Q5T7P8	SYT6_HUMAN	N	128;213;128;213	ENSP00000358560:K128N;ENSP00000376974:K213N;ENSP00000358559:K128N;ENSP00000358558:K213N	ENSP00000358558:K213N	K	-	3	2	SYT6	114482072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.945000	0.29056	1.346000	0.45694	0.655000	0.94253	AAG		0.562	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
AMPD1	270	broad.mit.edu	37	1	115218606	115218606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:115218606C>A	ENST00000520113.2	-	11	1521	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	AMPD1_ENST00000353928.6_Missense_Mutation_p.K469N|AMPD1_ENST00000369538.3_Missense_Mutation_p.K498N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	502					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.K469N(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GAAGGAAATTCTTGGAACGGA	0.438																																					p.K502N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1506T	1						.						97.0	103.0	101.0					1																	115218606		2203	4300	6503	115020129	SO:0001583	missense	270	exon11			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1506G>T	1.37:g.115218606C>A	ENSP00000430075:p.Lys502Asn		115020129	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651461	0.67472	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.95853	-3.83;-3.83;-3.83	5.58	5.58	0.84498	Adenosine/AMP deaminase (1);	0.084621	0.85682	D	0.000000	D	0.93615	0.7961	N	0.25031	0.7	0.80722	D	1	P;D	0.60575	0.916;0.988	P;P	0.62298	0.697;0.9	D	0.91430	0.5165	10	0.15499	T	0.54	-22.8731	19.5788	0.95458	0.0:1.0:0.0:0.0	.	498;469	Q5TF02;P23109	.;AMPD1_HUMAN	N	502;498;469	ENSP00000430075:K502N;ENSP00000358551:K498N;ENSP00000316520:K469N	ENSP00000316520:K469N	K	-	3	2	AMPD1	115020129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.362000	0.52314	2.626000	0.88956	0.561000	0.74099	AAG		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.Q61R			Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	NRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,-1	.	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	c.A182G	1						.						180.0	156.0	164.0					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	4893	exon3	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg		115058052	NM_002524	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
TSHB	7252	broad.mit.edu	37	1	115576730	115576730	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:115576730C>A	ENST00000369517.1	+	2	299	c.299C>A	c.(298-300)gCt>gAt	p.A100D	TSHB_ENST00000256592.1_Missense_Mutation_p.A100D			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	100					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.A100D(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TATCCTGTTGCTTTAAGCTGT	0.428																																					p.A100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299A	1						.						212.0	199.0	204.0					1																	115576730		2203	4300	6503	115378253	SO:0001583	missense	7252	exon3			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.299C>A	1.37:g.115576730C>A	ENSP00000358530:p.Ala100Asp		115378253	NM_000549	B1AKP0|Q16163	Missense_Mutation	SNP	ENST00000369517.1	37	CCDS880.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451193	0.84209	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	T;T	0.71817	-0.6;-0.6	6.03	6.03	0.97812	Cystine knot (1);Gonadotropin, beta subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91938	0.5560	10	0.87932	D	0	-18.226	20.1519	0.98089	0.0:1.0:0.0:0.0	.	100	P01222	TSHB_HUMAN	D	100	ENSP00000256592:A100D;ENSP00000358530:A100D	ENSP00000256592:A100D	A	+	2	0	TSHB	115378253	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	6.300000	0.72776	2.861000	0.98227	0.655000	0.94253	GCT		0.428	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032833.2	NM_000549	
FBXO6	26270	broad.mit.edu	37	1	11728882	11728882	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:11728882G>A	ENST00000376753.4	+	2	302	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	56	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)	p.R56H(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGAAACGCAAGTGCCTG	0.622																																					p.R56H	NSCLC(54;506 1562 46490 51389)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	1						.						57.0	61.0	60.0					1																	11728882		2203	4300	6503	11651469	SO:0001583	missense	26270	exon2			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.167G>A	1.37:g.11728882G>A	ENSP00000365944:p.Arg56His		11651469	NM_018438	B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	ENST00000376753.4	37	CCDS133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.608|9.608	1.130396|1.130396	0.21041|0.21041	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000449067|ENST00000376753	.|T	.|0.51071	.|0.72	5.15|5.15	3.25|3.25	0.37280|0.37280	.|F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	.|0.268407	.|0.38663	.|N	.|0.001617	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.52573|0.52573	1.65|1.65	0.35826|0.35826	D|D	0.82497|0.82497	.|P	.|0.34997	.|0.479	.|B	.|0.34779	.|0.189	T|T	0.43475|0.43475	-0.9389|-0.9389	5|10	.|0.49607	.|T	.|0.09	-10.2122|-10.2122	5.1074|5.1074	0.14790|0.14790	0.0797:0.1454:0.6246:0.1504|0.0797:0.1454:0.6246:0.1504	.|.	.|56	.|Q9NRD1	.|FBX6_HUMAN	T|H	44|56	.|ENSP00000365944:R56H	.|ENSP00000365944:R56H	A|R	+|+	1|2	0|0	FBXO6|FBXO6	11651469|11651469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.057000|0.057000	0.15508|0.15508	2.966000|2.966000	0.49208|0.49208	0.669000|0.669000	0.31146|0.31146	-0.188000|-0.188000	0.12872|0.12872	GCA|CGC		0.622	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006332.1	NM_018438	
CASQ2	845	broad.mit.edu	37	1	116275543	116275543	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:116275543G>T	ENST00000261448.5	-	5	824	c.585C>A	c.(583-585)ttC>ttA	p.F195L	CASQ2_ENST00000456138.2_Missense_Mutation_p.F124L|CASQ2_ENST00000488931.1_5'UTR	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	195					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.F195L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-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)		AGGTGGCAAAGAATTTGATGT	0.383																																					p.F195L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C585A	1						.						118.0	116.0	117.0					1																	116275543		2203	4300	6503	116077066	SO:0001583	missense	845	exon5			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.585C>A	1.37:g.116275543G>T	ENSP00000261448:p.Phe195Leu		116077066	NM_001232	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	CCDS884.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259235	0.80246	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	D;D	0.90444	-2.67;-2.67	5.68	0.36	0.16097	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	M	0.87456	2.885	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92596	0.6087	10	0.72032	D	0.01	-18.207	9.9025	0.41355	0.301:0.0:0.699:0.0	.	124;195	B4DIB0;O14958	.;CASQ2_HUMAN	L	195;124;195	ENSP00000261448:F195L;ENSP00000403858:F124L	ENSP00000261448:F195L	F	-	3	2	CASQ2	116077066	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.521000	0.35910	0.170000	0.19704	-0.312000	0.09012	TTC		0.383	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232	
CD101	9398	broad.mit.edu	37	1	117560087	117560087	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:117560087A>C	ENST00000256652.4	+	5	1662	c.1604A>C	c.(1603-1605)aAg>aCg	p.K535T	CD101_ENST00000369470.1_Missense_Mutation_p.K535T	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	535					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.K535T(1)		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						GTTACTGTAAAGTCTCTGGGT	0.468																																					p.K535T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1604C	1						.						62.0	67.0	66.0					1																	117560087		2203	4300	6503	117361610	SO:0001583	missense	9398	exon5			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.1604A>C	1.37:g.117560087A>C	ENSP00000256652:p.Lys535Thr		117361610	NM_004258	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	2.124	-0.400647	0.04865	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03301	3.98;3.98	4.76	2.46	0.29980	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.617765	0.16059	N	0.231590	T	0.01189	0.0039	L	0.42245	1.32	0.09310	N	1	P	0.46395	0.877	P	0.45829	0.494	T	0.29274	-1.0017	10	0.07030	T	0.85	-12.6877	6.2262	0.20710	0.8005:0.0:0.1995:0.0	.	535	Q93033	IGSF2_HUMAN	T	535	ENSP00000256652:K535T;ENSP00000358482:K535T	ENSP00000256652:K535T	K	+	2	0	CD101	117361610	0.000000	0.05858	0.054000	0.19295	0.887000	0.51463	-0.119000	0.10676	0.422000	0.26005	0.533000	0.62120	AAG		0.468	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
CD101	9398	broad.mit.edu	37	1	117564584	117564584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:117564584G>T	ENST00000256652.4	+	7	2465	c.2407G>T	c.(2407-2409)Gaa>Taa	p.E803*	CD101_ENST00000369470.1_Nonsense_Mutation_p.E803*	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	803					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.E803*(1)		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						AGGACTAACAGAATTGAAACT	0.483																																					p.E803X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2407T	1						.						84.0	86.0	85.0					1																	117564584		2203	4300	6503	117366107	SO:0001587	stop_gained	9398	exon7			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.2407G>T	1.37:g.117564584G>T	ENSP00000256652:p.Glu803*		117366107	NM_004258	Q15856	Nonsense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	38	6.921675	0.97936	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	.	.	.	5.3	3.41	0.39046	.	0.422554	0.22485	N	0.059441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.4059	7.3697	0.26794	0.0893:0.1679:0.7428:0.0	.	.	.	.	X	803	.	ENSP00000256652:E803X	E	+	1	0	CD101	117366107	0.851000	0.29673	0.348000	0.25681	0.971000	0.66376	1.997000	0.40786	0.794000	0.33899	0.650000	0.86243	GAA		0.483	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
TBX15	6913	broad.mit.edu	37	1	119466177	119466177	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:119466177C>T	ENST00000369429.3	-	5	752	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TBX15_ENST00000207157.3_Missense_Mutation_p.R142H			Q96SF7	TBX15_HUMAN	T-box 15	248					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R142H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453																																					p.R142H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	1						.						173.0	166.0	168.0					1																	119466177		2203	4300	6503	119267700	SO:0001583	missense	6913	exon5			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.743G>A	1.37:g.119466177C>T	ENSP00000358437:p.Arg248His		119267700	NM_152380	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37		.	.	.	.	.	.	.	.	.	.	C	34	5.329657	0.95733	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429	T;T	0.81163	-1.46;-1.46	5.78	5.78	0.91487	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	D	0.89748	0.3938	10	0.66056	D	0.02	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	248	Q96SF7	TBX15_HUMAN	H	12;142;248	ENSP00000207157:R142H;ENSP00000358437:R248H	ENSP00000207157:R142H	R	-	2	0	TBX15	119267700	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.763000	0.68818	2.730000	0.93505	0.655000	0.94253	CGC		0.453	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
PRDM2	7799	broad.mit.edu	37	1	14107602	14107602	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:14107602A>C	ENST00000235372.7	+	8	4168	c.3312A>C	c.(3310-3312)gaA>gaC	p.E1104D	PRDM2_ENST00000343137.4_Missense_Mutation_p.E903D|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.E903D|PRDM2_ENST00000311066.5_Missense_Mutation_p.E1104D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1104					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.E1104D(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)		AACAGGAGGAATTAGAGAATG	0.453																																					p.E903D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2709C	1						.						81.0	84.0	83.0					1																	14107602		2203	4300	6503	13980189	SO:0001583	missense	7799	exon3			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.3312A>C	1.37:g.14107602A>C	ENSP00000235372:p.Glu1104Asp		13980189	NM_001007257	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	6.816	0.519611	0.13005	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01629	4.83;4.72;4.73;4.73	5.97	-7.09	0.01553	.	0.372870	0.30771	N	0.008915	T	0.01320	0.0043	L	0.32530	0.975	0.20563	N	0.99989	B;B;B	0.26744	0.158;0.001;0.002	B;B;B	0.19946	0.027;0.003;0.006	T	0.42224	-0.9464	10	0.31617	T	0.26	.	12.5019	0.55960	0.2199:0.2087:0.5713:0.0	.	962;1104;1104	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	D	1104;1104;1104;903;903	ENSP00000235372:E1104D;ENSP00000312352:E1104D;ENSP00000411103:E903D;ENSP00000341621:E903D	ENSP00000235372:E1104D	E	+	3	2	PRDM2	13980189	0.001000	0.12720	0.006000	0.13384	0.682000	0.39822	-0.048000	0.11944	-0.780000	0.04553	0.533000	0.62120	GAA		0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
NOTCH2	4853	broad.mit.edu	37	1	120462975	120462975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:120462975G>A	ENST00000256646.2	-	30	5575	c.5356C>T	c.(5356-5358)Cga>Tga	p.R1786*	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1786					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1786*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGGCCGTCGATCAATGGGG	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.R1786X			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C5356T	1						.						174.0	136.0	149.0					1																	120462975		2203	4300	6503	120264498	SO:0001587	stop_gained	4853	exon30	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5356C>T	1.37:g.120462975G>A	ENSP00000256646:p.Arg1786*		120264498	NM_024408	Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	45	11.948779	0.99620	.	.	ENSG00000134250	ENST00000256646	.	.	.	5.82	4.83	0.62350	.	0.000000	0.31734	U	0.007146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.0168	0.71591	0.0:0.0:0.7776:0.2224	.	.	.	.	X	1786	.	ENSP00000256646:R1786X	R	-	1	2	NOTCH2	120264498	0.974000	0.33945	0.943000	0.38184	0.797000	0.45037	1.959000	0.40412	2.761000	0.94854	0.655000	0.94253	CGA		0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
LIX1L	128077	broad.mit.edu	37	1	145487368	145487368	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:145487368G>T	ENST00000369308.3	+	2	431	c.357G>T	c.(355-357)aaG>aaT	p.K119N	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	119								p.K119N(1)		large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGACTTAAAGAATGGGGCTC	0.493																																					p.K119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G357T	1						.						178.0	166.0	170.0					1																	145487368		2203	4300	6503	144198725	SO:0001583	missense	128077	exon2			AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.357G>T	1.37:g.145487368G>T	ENSP00000358314:p.Lys119Asn		144198725	NM_153713	Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816645	0.70912	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	5.23	4.32	0.51571	.	0.107968	0.64402	D	0.000013	T	0.43787	0.1263	L	0.52573	1.65	0.48830	D	0.99971	P	0.48694	0.914	P	0.45913	0.497	T	0.50338	-0.8840	9	0.59425	D	0.04	-35.7989	11.5576	0.50757	0.0856:0.0:0.9144:0.0	.	119	Q8IVB5	LIX1L_HUMAN	N	119;66	.	ENSP00000358314:K119N	K	+	3	2	LIX1L	144198725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.010000	0.29898	1.443000	0.47586	0.655000	0.94253	AAG		0.493	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713	
ARNT	405	broad.mit.edu	37	1	150789891	150789891	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:150789891T>G	ENST00000358595.5	-	16	1724	c.1524A>C	c.(1522-1524)acA>acC	p.T508T	ARNT_ENST00000505755.1_Silent_p.T493T|ARNT_ENST00000515192.1_Silent_p.T494T|ARNT_ENST00000354396.2_Silent_p.T508T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	508					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.T508T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTCCAATTCTGTTTGCTGTT	0.393			T	ETV6	AML																																p.T493T			Dom	yes		1	1q21	405	aryl hydrocarbon receptor nuclear translocator		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1479C	1						.						160.0	135.0	143.0					1																	150789891		2203	4300	6503	149056515	SO:0001819	synonymous_variant	405	exon15			AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1524A>C	1.37:g.150789891T>G			149056515	NM_001197325	B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Silent	SNP	ENST00000358595.5	37	CCDS970.1																																																																																				0.393	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2		
SETDB1	9869	broad.mit.edu	37	1	150915098	150915098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:150915098C>T	ENST00000271640.5	+	6	797	c.607C>T	c.(607-609)Cga>Tga	p.R203*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.R203*|SETDB1_ENST00000368962.2_Nonsense_Mutation_p.R203*|SETDB1_ENST00000368963.1_Nonsense_Mutation_p.R203*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	203					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R203*(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTCAGCATGCGAATTCTGGG	0.438																																					p.R203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C607T	1						.						120.0	114.0	116.0					1																	150915098		2203	4300	6503	149181722	SO:0001587	stop_gained	9869	exon6			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.607C>T	1.37:g.150915098C>T	ENSP00000271640:p.Arg203*		149181722	NM_001145415	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Nonsense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800633	0.90538	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000368963;ENST00000498193	.	.	.	5.98	3.91	0.45181	.	0.262921	0.40554	N	0.001077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.133	0.86730	0.279:0.721:0.0:0.0	.	.	.	.	X	203	.	ENSP00000271640:R203X	R	+	1	2	SETDB1	149181722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.225000	0.51246	1.501000	0.48654	0.563000	0.77884	CGA		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
POGZ	23126	broad.mit.edu	37	1	151384199	151384199	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:151384199G>A	ENST00000271715.2	-	12	2142	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	POGZ_ENST00000409503.1_Missense_Mutation_p.R601W|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Missense_Mutation_p.R548W|POGZ_ENST00000392723.1_Missense_Mutation_p.R557W|POGZ_ENST00000368863.2_Missense_Mutation_p.R515W|POGZ_ENST00000491586.1_Missense_Mutation_p.R566W|POGZ_ENST00000361398.3_Missense_Mutation_p.R557W	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	610					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R610W(1)|p.R566W(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGATCATCCGAAAATGGACA	0.458																																					p.R515W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1543T	1						.						111.0	95.0	101.0					1																	151384199		2203	4300	6503	149650823	SO:0001583	missense	23126	exon10			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1828C>T	1.37:g.151384199G>A	ENSP00000271715:p.Arg610Trp		149650823	NM_145796	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	CCDS997.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993121	0.74703	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;4.92	5.01	4.07	0.47477	Zinc finger, C2H2-like (1);	0.000000	0.46145	D	0.000316	T	0.57592	0.2064	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.99;0.929;0.997;0.995;0.992;0.99	T	0.68284	-0.5449	10	0.87932	D	0	-18.8	11.486	0.50354	0.0:0.0:0.6743:0.3257	.	548;601;515;566;557;610	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	W	557;610;557;515;601;548;566	ENSP00000376484:R557W;ENSP00000271715:R610W;ENSP00000354467:R557W;ENSP00000357856:R515W;ENSP00000386836:R601W;ENSP00000431259:R548W;ENSP00000418408:R566W	ENSP00000271715:R610W	R	-	1	2	POGZ	149650823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.521000	0.53472	1.293000	0.44690	0.563000	0.77884	CGG		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171	
TCHHL1	126637	broad.mit.edu	37	1	152057846	152057846	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152057846G>T	ENST00000368806.1	-	3	2376	c.2312C>A	c.(2311-2313)tCt>tAt	p.S771Y		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	771							calcium ion binding (GO:0005509)	p.S771Y(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGGACTGAAGAATTGTGCTC	0.493																																					p.S771Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2312A	1						.						156.0	147.0	150.0					1																	152057846		2203	4300	6503	150324470	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2312C>A	1.37:g.152057846G>T	ENSP00000357796:p.Ser771Tyr		150324470	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.39	2.221810	0.39300	.	.	ENSG00000182898	ENST00000368806	T	0.32515	1.45	4.56	2.69	0.31865	.	1.537360	0.04338	N	0.353562	T	0.19685	0.0473	L	0.34521	1.04	0.09310	N	1	D	0.56968	0.978	P	0.54460	0.753	T	0.18053	-1.0349	10	0.62326	D	0.03	3.7172	6.5563	0.22462	0.1007:0.1819:0.7174:0.0	.	771	Q5QJ38	TCHL1_HUMAN	Y	771	ENSP00000357796:S771Y	ENSP00000357796:S771Y	S	-	2	0	TCHHL1	150324470	0.597000	0.26874	0.070000	0.20053	0.002000	0.02628	0.796000	0.26986	0.370000	0.24538	-0.121000	0.15023	TCT		0.493	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHHL1	126637	broad.mit.edu	37	1	152059970	152059970	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152059970T>C	ENST00000368806.1	-	3	252	c.188A>G	c.(187-189)gAc>gGc	p.D63G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	63	EF-hand.						calcium ion binding (GO:0005509)	p.D63G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCCATTACTGTCAATATTCAG	0.348																																					p.D63G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	1						.						63.0	59.0	60.0					1																	152059970		2203	4300	6503	150326594	SO:0001583	missense	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.188A>G	1.37:g.152059970T>C	ENSP00000357796:p.Asp63Gly		150326594	NM_001008536	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	6.788	0.514342	0.12944	.	.	ENSG00000182898	ENST00000368806	T	0.17854	2.25	5.3	4.17	0.49024	EF-hand-like domain (1);	0.376138	0.19302	N	0.117610	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	P	0.38711	0.643	B	0.33454	0.164	T	0.28839	-1.0031	10	0.42905	T	0.14	-5.6773	6.4109	0.21690	0.0:0.123:0.0:0.877	.	63	Q5QJ38	TCHL1_HUMAN	G	63	ENSP00000357796:D63G	ENSP00000357796:D63G	D	-	2	0	TCHHL1	150326594	0.014000	0.17966	0.697000	0.30258	0.038000	0.13279	1.572000	0.36461	0.851000	0.35264	0.372000	0.22366	GAC		0.348	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
TCHH	7062	broad.mit.edu	37	1	152081399	152081399	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152081399A>T	ENST00000368804.1	-	2	4293	c.4294T>A	c.(4294-4296)Ttc>Atc	p.F1432I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1432	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.F1432I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCACGGAATTTTCTGTCA	0.597											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																									p.F1432I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4294A	1						.						90.0	90.0	90.0					1																	152081399		1895	4108	6003	150348023	SO:0001583	missense	7062	exon2			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4294T>A	1.37:g.152081399A>T	ENSP00000357794:p.Phe1432Ile	1745	150348023	NM_007113	Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	a	9.135	1.012475	0.19277	.	.	ENSG00000159450	ENST00000368804	T	0.05717	3.4	3.32	-1.57	0.08506	.	.	.	.	.	T	0.01523	0.0049	L	0.58101	1.795	0.09310	N	1	P	0.39551	0.678	B	0.30646	0.118	T	0.44651	-0.9314	9	0.27785	T	0.31	.	4.5094	0.11903	0.3353:0.0:0.4756:0.1891	.	1432	Q07283	TRHY_HUMAN	I	1432	ENSP00000357794:F1432I	ENSP00000357794:F1432I	F	-	1	0	TCHH	150348023	0.003000	0.15002	0.022000	0.16811	0.013000	0.08279	0.019000	0.13444	-0.188000	0.10499	-0.467000	0.05162	TTC		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
RPTN	126638	broad.mit.edu	37	1	152128411	152128411	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152128411A>G	ENST00000316073.3	-	3	1228	c.1164T>C	c.(1162-1164)agT>agC	p.S388S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	388	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.S388S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CATAGTGAGAACTCTGATCTT	0.488																																					p.S388S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1164C	1						.						793.0	684.0	717.0					1																	152128411		1568	3582	5150	150395035	SO:0001819	synonymous_variant	126638	exon3			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1164T>C	1.37:g.152128411A>G			150395035	NM_001122965	B7ZBZ3	Silent	SNP	ENST00000316073.3	37	CCDS41397.1																																																																																				0.488	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
LCE3B	353143	broad.mit.edu	37	1	152586484	152586484	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152586484C>T	ENST00000335633.1	+	1	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	66	Cys-rich.				keratinization (GO:0031424)			p.C66C(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CCCACCGATGCCGGCGCCAGA	0.642																																					p.C66C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C198T	1						.						58.0	55.0	56.0					1																	152586484		1820	2703	4523	150853108	SO:0001819	synonymous_variant	353143	exon1				CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.198C>T	1.37:g.152586484C>T			150853108	NM_178433		Silent	SNP	ENST00000335633.1	37	CCDS1016.1																																																																																				0.642	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034515.2	NM_178433	
LCE1B	353132	broad.mit.edu	37	1	152785204	152785204	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:152785204C>T	ENST00000360090.3	+	1	758	c.282C>T	c.(280-282)ggC>ggT	p.G94G		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	94	Gly-rich.				keratinization (GO:0031424)			p.G94G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGCTCTGGCTGCTGCAGCC	0.657																																					p.G94G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	1						.						28.0	35.0	32.0					1																	152785204		2199	4296	6495	151051828	SO:0001819	synonymous_variant	353132	exon1			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.282C>T	1.37:g.152785204C>T			151051828	NM_178349	A4IF40	Silent	SNP	ENST00000360090.3	37	CCDS1027.1																																																																																				0.657	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349	
CRTC2	200186	broad.mit.edu	37	1	153925092	153925092	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:153925092G>A	ENST00000368633.1	-	8	784	c.657C>T	c.(655-657)aaC>aaT	p.N219N	CRTC2_ENST00000476883.1_5'Flank|CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	219					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.N219N(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CATCTAGCAAGTTCTCCTCAA	0.517																																					p.N219N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C657T	1						.						242.0	239.0	240.0					1																	153925092		2203	4300	6503	152191716	SO:0001819	synonymous_variant	200186	exon8			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.657C>T	1.37:g.153925092G>A			152191716	NM_181715	Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	CCDS30875.1																																																																																				0.517	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	
SLC39A1	27173	broad.mit.edu	37	1	153934789	153934789	+	Silent	SNP	G	G	A	rs570195454	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:153934789G>A	ENST00000368623.3	-	2	984	c.225C>T	c.(223-225)ttC>ttT	p.F75F	SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000310483.6_Silent_p.F75F|SLC39A1_ENST00000356205.4_Silent_p.F75F|SLC39A1_ENST00000368621.1_Silent_p.F75F|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	75					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)	p.F75F(1)		kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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)	Colorectal(1306;0.019)		CGCCCCCCGCGAAACAGCTTA	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		17771	0.0		0.0	False		,,,				2504	0.002				p.F75F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	1						.						91.0	98.0	95.0					1																	153934789		2203	4300	6503	152201413	SO:0001819	synonymous_variant	27173	exon4			BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.225C>T	1.37:g.153934789G>A			152201413	NM_014437	B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Silent	SNP	ENST00000368623.3	37	CCDS1055.1																																																																																				0.612	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437	
TPM3	7170	broad.mit.edu	37	1	154143175	154143175	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:154143175C>A	ENST00000368530.2	-	7	847	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	TPM3_ENST00000330188.9_Nonsense_Mutation_p.E182*|TPM3_ENST00000323144.7_Nonsense_Mutation_p.E182*|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Nonsense_Mutation_p.E219*|TPM3_ENST00000302206.5_Nonsense_Mutation_p.E92*|TPM3_ENST00000341372.3_Nonsense_Mutation_p.E157*|TPM3_ENST00000328159.4_Nonsense_Mutation_p.E182*|TPM3_ENST00000368531.2_Nonsense_Mutation_p.E182*|TPM3_ENST00000341485.5_Nonsense_Mutation_p.E166*|TPM3_ENST00000368533.3_Nonsense_Mutation_p.E182*	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	219					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.E219*(1)|p.E182*(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)					TATTTATCTTCTTTTTGAGAG	0.343			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																p.E182X			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"""E, L"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G544T	1						.						101.0	106.0	104.0					1																	154143175		2203	4300	6503	152409799	SO:0001587	stop_gained	7170	exon6			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.655G>T	1.37:g.154143175C>A	ENSP00000357516:p.Glu219*		152409799	NM_001043351	D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Nonsense_Mutation	SNP	ENST00000368530.2	37	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	C	37	5.986133	0.97173	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.1804	18.9228	0.92532	0.0:1.0:0.0:0.0	.	.	.	.	X	182;166;182;158;182;219;92;182;182;219	.	ENSP00000271850:E219X	E	-	1	0	TPM3	152409799	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.543000	0.85770	0.563000	0.77884	GAA		0.343	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263	
ASH1L	55870	broad.mit.edu	37	1	155449689	155449689	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:155449689G>T	ENST00000368346.3	-	3	3611	c.2972C>A	c.(2971-2973)aCt>aAt	p.T991N	ASH1L_ENST00000392403.3_Missense_Mutation_p.T991N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	991					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.T991N(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)			TCTCTTTAAAGTCTTCATTTT	0.308																																					p.T991N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2972A	1						.						46.0	50.0	49.0					1																	155449689		2200	4297	6497	153716313	SO:0001583	missense	55870	exon3			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.2972C>A	1.37:g.155449689G>T	ENSP00000357330:p.Thr991Asn		153716313	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	G	15.38	2.816830	0.50633	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90004	-2.6;-2.6	5.31	5.31	0.75309	.	0.057120	0.64402	D	0.000001	D	0.88489	0.6450	L	0.27053	0.805	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.60345	0.749;0.873	D	0.90057	0.4153	10	0.87932	D	0	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	991;991	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	991	ENSP00000357330:T991N;ENSP00000376204:T991N	ENSP00000357330:T991N	T	-	2	0	ASH1L	153716313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.041000	0.64196	2.768000	0.95171	0.650000	0.86243	ACT		0.308	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
ASH1L	55870	broad.mit.edu	37	1	155450063	155450063	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:155450063T>C	ENST00000368346.3	-	3	3237	c.2598A>G	c.(2596-2598)ccA>ccG	p.P866P	ASH1L_ENST00000392403.3_Silent_p.P866P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	866					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.P866P(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)			GCTGTAAAATTGGGGGTTCTT	0.428																																					p.P866P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2598G	1						.						126.0	135.0	132.0					1																	155450063		2203	4300	6503	153716687	SO:0001819	synonymous_variant	55870	exon3			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.2598A>G	1.37:g.155450063T>C			153716687	NM_018489	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
YY1AP1	55249	broad.mit.edu	37	1	155630672	155630672	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:155630672C>T	ENST00000295566.4	-	11	1190	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	YY1AP1_ENST00000368340.5_Silent_p.R461R|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368330.2_Silent_p.R343R|YY1AP1_ENST00000535662.1_Silent_p.R189R|YY1AP1_ENST00000405763.3_3'UTR|YY1AP1_ENST00000368339.5_Silent_p.R481R|YY1AP1_ENST00000355499.4_Silent_p.R343R|YY1AP1_ENST00000407221.1_Silent_p.R312R|YY1AP1_ENST00000404643.1_Silent_p.R323R|YY1AP1_ENST00000311573.5_Silent_p.R312R|YY1AP1_ENST00000347088.5_Silent_p.R343R|YY1AP1_ENST00000359205.5_Silent_p.R332R|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000361831.5_Silent_p.R332R	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	389					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R389R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CAGCCATGTGCCGCAGTTCTT	0.458																																					p.G416D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1247A	1						.						95.0	91.0	92.0					1																	155630672		2203	4298	6501	153897296	SO:0001819	synonymous_variant	55249	exon11			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1167G>A	1.37:g.155630672C>T			153897296	NM_001198906	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	CCDS1115.1																																																																																				0.458	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
RIT1	6016	broad.mit.edu	37	1	155870317	155870317	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:155870317A>C	ENST00000368323.3	-	6	726	c.522T>G	c.(520-522)gtT>gtG	p.V174V	RIT1_ENST00000539040.1_Silent_p.V138V|RIT1_ENST00000368322.3_Silent_p.V191V	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	174					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.V174V(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GGGCATGGAAAACATCATCAA	0.453																																					p.V174V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T522G	1						.						219.0	215.0	216.0					1																	155870317		2203	4300	6503	154136941	SO:0001819	synonymous_variant	6016	exon6			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.522T>G	1.37:g.155870317A>C			154136941	NM_006912	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Silent	SNP	ENST00000368323.3	37	CCDS1123.1																																																																																				0.453	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912	
ARHGEF11	9826	broad.mit.edu	37	1	156912567	156912567	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:156912567G>A	ENST00000361409.2	-	32	3863	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R1081W|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R457W|ARHGEF11_ENST00000487682.1_5'UTR	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1041	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.R1081W(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)					AAGAAGGCCCGTTTATCTGTG	0.532																																					p.R1081W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3241T	1						.						167.0	135.0	146.0					1																	156912567		2203	4300	6503	155179191	SO:0001583	missense	9826	exon33			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.3121C>T	1.37:g.156912567G>A	ENSP00000354644:p.Arg1041Trp		155179191	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961511	0.74016	.	.	ENSG00000132694	ENST00000368194;ENST00000361409;ENST00000315174	T;T;T	0.66099	-0.19;-0.19;-0.19	4.9	3.92	0.45320	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.48767	D	0.000161	T	0.72835	0.3510	M	0.74467	2.265	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.991;0.994	T	0.76119	-0.3076	10	0.87932	D	0	-21.5293	13.6341	0.62213	0.0:0.0:0.7664:0.2336	.	457;1041;1081	F8W8P9;O15085;O15085-2	.;ARHGB_HUMAN;.	W	1081;1041;457	ENSP00000357177:R1081W;ENSP00000354644:R1041W;ENSP00000313470:R457W	ENSP00000313470:R457W	R	-	1	2	ARHGEF11	155179191	0.127000	0.22367	1.000000	0.80357	0.983000	0.72400	1.545000	0.36169	2.547000	0.85894	0.655000	0.94253	CGG		0.532	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
FCRL5	83416	broad.mit.edu	37	1	157494229	157494229	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:157494229A>C	ENST00000361835.3	-	10	2236	c.2079T>G	c.(2077-2079)ttT>ttG	p.F693L	FCRL5_ENST00000356953.4_Missense_Mutation_p.F693L|FCRL5_ENST00000368191.3_Missense_Mutation_p.F608L|FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368190.3_Missense_Mutation_p.F693L	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	693	Ig-like C2-type 7.				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.F693L(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)				CTTCATGATAAAACCAGTACA	0.572																																					p.F693L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2079G	1						.						58.0	65.0	63.0					1																	157494229		2203	4300	6503	155760853	SO:0001583	missense	83416	exon10			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.2079T>G	1.37:g.157494229A>C	ENSP00000354691:p.Phe693Leu		155760853	NM_031281	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.293663	0.40594	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	4.69	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08670	0.0215	M	0.91249	3.19	0.80722	D	1	D;P;D;D	0.89917	0.985;0.845;1.0;1.0	D;P;D;D	0.85130	0.971;0.901;0.994;0.997	T	0.01283	-1.1396	9	0.51188	T	0.08	.	6.4685	0.21995	0.8041:0.0:0.1959:0.0	.	608;693;693;693	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	L	693;693;693;608	ENSP00000354691:F693L;ENSP00000349434:F693L;ENSP00000357173:F693L;ENSP00000357174:F608L	ENSP00000349434:F693L	F	-	3	2	FCRL5	155760853	0.987000	0.35691	0.538000	0.28064	0.005000	0.04900	1.306000	0.33505	0.390000	0.25115	-0.389000	0.06534	TTT		0.572	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	
FCRL2	79368	broad.mit.edu	37	1	157716535	157716535	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:157716535C>A	ENST00000361516.3	-	12	1566	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	FCRL2_ENST00000392274.3_3'UTR|FCRL2_ENST00000368181.4_Missense_Mutation_p.K200N	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	506					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K506N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTATGATTTCTTCACAGAAG	0.403																																					p.K506N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1518T	1						.						108.0	101.0	103.0					1																	157716535		2203	4300	6503	155983159	SO:0001583	missense	79368	exon12			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1518G>T	1.37:g.157716535C>A	ENSP00000355157:p.Lys506Asn		155983159	NM_030764	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032756	0.54790	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181	T;T	0.35421	1.31;2.96	3.44	0.276	0.15663	.	1.167990	0.06649	U	0.762374	T	0.38692	0.1050	M	0.76170	2.325	0.09310	N	1	P;D;D	0.76494	0.886;0.999;0.969	B;D;P	0.73708	0.29;0.981;0.725	T	0.09574	-1.0668	10	0.72032	D	0.01	.	3.7434	0.08539	0.0:0.5503:0.2046:0.2451	.	200;506;253	Q96LA5-5;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	N	200;506;200	ENSP00000355157:K506N;ENSP00000357163:K200N	ENSP00000292389:K200N	K	-	3	2	FCRL2	155983159	0.003000	0.15002	0.001000	0.08648	0.553000	0.35397	0.010000	0.13242	-0.049000	0.13379	0.650000	0.86243	AAG		0.403	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
OR10T2	128360	broad.mit.edu	37	1	158369175	158369175	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:158369175G>A	ENST00000334438.1	-	1	81	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L28F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ATGACAAAAAGCAGCAGCTGG	0.488																																					p.L28F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	1						.						37.0	41.0	40.0					1																	158369175		2203	4300	6503	156635799	SO:0001583	missense	128360	exon1			AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.82C>T	1.37:g.158369175G>A	ENSP00000334115:p.Leu28Phe		156635799	NM_001004475	Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506459	0.26949	.	.	ENSG00000186306	ENST00000334438	T	0.17213	2.29	4.64	4.64	0.57946	.	0.000000	0.34223	U	0.004156	T	0.11495	0.0280	L	0.46885	1.475	0.09310	N	1	P	0.46621	0.881	P	0.44518	0.452	T	0.02411	-1.1163	10	0.54805	T	0.06	.	16.4258	0.83814	0.0:0.0:1.0:0.0	.	28	Q8NGX3	O10T2_HUMAN	F	28	ENSP00000334115:L28F	ENSP00000334115:L28F	L	-	1	0	OR10T2	156635799	0.645000	0.27286	0.144000	0.22314	0.903000	0.53119	1.543000	0.36147	2.390000	0.81377	0.585000	0.79938	CTT		0.488	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475	
OR6Y1	391112	broad.mit.edu	37	1	158517133	158517133	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:158517133G>T	ENST00000302617.3	-	1	762	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L255I(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAATAGAAGAGAATTACGACG	0.498																																					p.L255I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C763A	1						.						186.0	179.0	181.0					1																	158517133		2203	4300	6503	156783757	SO:0001583	missense	391112	exon1			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.763C>A	1.37:g.158517133G>T	ENSP00000304807:p.Leu255Ile		156783757	NM_001005189	Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642480	0.03531	.	.	ENSG00000197532	ENST00000302617	T	0.00256	8.42	5.34	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	N	0.001985	T	0.00039	0.0001	N	0.10782	0.045	0.09310	N	0.999998	B	0.33299	0.407	B	0.36092	0.217	T	0.17167	-1.0378	10	0.02654	T	1	.	3.8315	0.08876	0.079:0.1443:0.4784:0.2983	.	255	Q8NGX8	OR6Y1_HUMAN	I	255	ENSP00000304807:L255I	ENSP00000304807:L255I	L	-	1	0	OR6Y1	156783757	0.001000	0.12720	0.875000	0.34327	0.965000	0.64279	-0.108000	0.10857	1.465000	0.48006	0.655000	0.94253	CTC		0.498	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189	
OR10Z1	128368	broad.mit.edu	37	1	158576287	158576287	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:158576287C>A	ENST00000361284.1	+	1	59	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S20Y(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTCTCCAGTTCTGGGGAGTTG	0.478																																					p.S20Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C59A	1						.						151.0	150.0	150.0					1																	158576287		2203	4300	6503	156842911	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.59C>A	1.37:g.158576287C>A	ENSP00000354707:p.Ser20Tyr		156842911	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224287	0.09863	.	.	ENSG00000198967	ENST00000361284	T	0.01106	5.33	5.25	2.78	0.32641	.	0.357235	0.20609	N	0.089015	T	0.00210	0.0006	N	0.13168	0.305	0.23859	N	0.996649	B	0.02656	0.0	B	0.06405	0.002	T	0.44003	-0.9356	10	0.02654	T	1	.	3.1824	0.06589	0.1662:0.2466:0.0:0.5872	.	20	Q8NGY1	O10Z1_HUMAN	Y	20	ENSP00000354707:S20Y	ENSP00000354707:S20Y	S	+	2	0	OR10Z1	156842911	0.000000	0.05858	0.989000	0.46669	0.201000	0.24016	-0.028000	0.12350	0.435000	0.26365	-0.290000	0.09829	TCT		0.478	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
AGMAT	79814	broad.mit.edu	37	1	15909865	15909865	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:15909865C>A	ENST00000375826.3	-	2	440	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	RP4-680D5.2_ENST00000428945.1_RNA|DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	100					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)	p.E100*(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		ATCACTGATTCTTCCCGGATG	0.532																																					p.E100X	NSCLC(126;1678 1780 25805 43508 49531)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G298T	1						.						57.0	52.0	54.0					1																	15909865		2203	4300	6503	15782452	SO:0001587	stop_gained	79814	exon2			AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.298G>T	1.37:g.15909865C>A	ENSP00000364986:p.Glu100*		15782452	NM_024758	Q5TDH1|Q9H5J3	Nonsense_Mutation	SNP	ENST00000375826.3	37	CCDS160.1	.	.	.	.	.	.	.	.	.	.	C	36	5.951880	0.97139	.	.	ENSG00000116771	ENST00000375826	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-21.3377	17.7407	0.88406	0.0:1.0:0.0:0.0	.	.	.	.	X	100	.	ENSP00000364986:E100X	E	-	1	0	AGMAT	15782452	1.000000	0.71417	0.851000	0.33527	0.638000	0.38207	6.995000	0.76257	2.527000	0.85204	0.558000	0.71614	GAA		0.532	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758	
MNDA	4332	broad.mit.edu	37	1	158811964	158811964	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:158811964A>C	ENST00000368141.4	+	2	282	c.21A>C	c.(19-21)aaA>aaC	p.K7N	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.K7N(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)					AATACAAGAAAATTCTTTTGC	0.308																																					p.K7N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A21C	1						.						59.0	60.0	60.0					1																	158811964		2203	4300	6503	157078588	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.21A>C	1.37:g.158811964A>C	ENSP00000357123:p.Lys7Asn		157078588	NM_002432		Missense_Mutation	SNP	ENST00000368141.4	37	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	A	6.599	0.478923	0.12581	.	.	ENSG00000163563	ENST00000368141	T	0.48836	0.8	3.51	2.37	0.29283	Pyrin (2);	.	.	.	.	T	0.20740	0.0499	L	0.36672	1.1	0.09310	N	1	P	0.38582	0.638	P	0.47015	0.534	T	0.21211	-1.0252	9	0.14656	T	0.56	-6.3766	5.4693	0.16660	0.8674:0.0:0.1326:0.0	.	7	P41218	MNDA_HUMAN	N	7	ENSP00000357123:K7N	ENSP00000357123:K7N	K	+	3	2	MNDA	157078588	0.001000	0.12720	0.038000	0.18304	0.017000	0.09413	0.425000	0.21346	0.522000	0.28464	0.455000	0.32223	AAA		0.308	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432	
IGSF9	57549	broad.mit.edu	37	1	159897155	159897155	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:159897155C>T	ENST00000368094.1	-	21	3717	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank|TAGLN2_ENST00000478033.1_5'Flank|IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.E1158K	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1174					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E1158K(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCTGTTCGGGGTGGGGG	0.602																																					p.E1174K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3520A	1						.						53.0	57.0	56.0					1																	159897155		2150	4222	6372	158163779	SO:0001583	missense	57549	exon21			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3520G>A	1.37:g.159897155C>T	ENSP00000357073:p.Glu1174Lys		158163779	NM_001135050		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495498	0.85069	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.67865	-0.29;-0.21	5.41	5.41	0.78517	.	0.000000	0.42548	D	0.000699	T	0.48696	0.1514	L	0.29908	0.895	0.34872	D	0.743689	P;D	0.61697	0.911;0.99	P;P	0.47470	0.459;0.548	T	0.51872	-0.8650	9	.	.	.	-9.3123	14.6989	0.69142	0.0:1.0:0.0:0.0	.	1174;712	Q9P2J2;C9JI81	TUTLA_HUMAN;.	K	1158;1174;712	ENSP00000355049:E1158K;ENSP00000357073:E1174K	.	E	-	1	0	IGSF9	158163779	0.991000	0.36638	0.978000	0.43139	0.740000	0.42216	3.215000	0.51169	2.536000	0.85505	0.563000	0.77884	GAA		0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789	
PEX19	5824	broad.mit.edu	37	1	160249980	160249980	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:160249980T>G	ENST00000368072.5	-	6	672	c.651A>C	c.(649-651)aaA>aaC	p.K217N	PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.K127N|DCAF8_ENST00000608310.1_Missense_Mutation_p.K70N|DCAF8_ENST00000556710.1_Missense_Mutation_p.K70N	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	217					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)	p.K217N(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCTGATATTTTTCAAACT	0.443																																					p.K217N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A651C	1						.						172.0	169.0	170.0					1																	160249980		2203	4300	6503	158516604	SO:0001583	missense	5824	exon6			Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.651A>C	1.37:g.160249980T>G	ENSP00000357051:p.Lys217Asn		158516604	NM_002857	D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	CCDS1201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.21|18.21	3.574580|3.574580	0.65878|0.65878	.|.	.|.	ENSG00000162735|ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000495624|ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	.|T;T	.|0.65732	.|-0.17;-0.17	5.66|5.66	0.715|0.715	0.18186|0.18186	.|.	.|0.107805	.|0.56097	.|D	.|0.000023	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.16478|0.16478	0.41|0.41	0.44462|0.44462	D|D	0.997394|0.997394	.|P;P	.|0.45011	.|0.648;0.848	.|B;B	.|0.40506	.|0.331;0.234	T|T	0.05209|0.05209	-1.0899|-1.0899	5|10	.|0.44086	.|T	.|0.13	-18.9395|-18.9395	9.3068|9.3068	0.37881|0.37881	0.0:0.3953:0.0:0.6047|0.0:0.3953:0.0:0.6047	.|.	.|70;217	.|G3V3G9;P40855	.|.;PEX19_HUMAN	L|N	55|70;70;87;217;197;127;197	.|ENSP00000451989:K70N;ENSP00000451235:K70N	.|ENSP00000357051:K217N	I|K	-|-	1|3	0|2	PEX19|RP11-574F21.3;PEX19;DCAF8	158516604|158516604	0.986000|0.986000	0.35501|0.35501	0.997000|0.997000	0.53966|0.53966	0.949000|0.949000	0.60115|0.60115	0.082000|0.082000	0.14847|0.14847	0.122000|0.122000	0.18314|0.18314	-0.360000|-0.360000	0.07572|0.07572	ATA|AAA		0.443	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857	
FCGR3A	2214	broad.mit.edu	37	1	161518237	161518237	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:161518237T>C	ENST00000436743.1	-	4	447	c.293A>G	c.(292-294)gAc>gGc	p.D98G	FCGR3A_ENST00000540048.1_Missense_Mutation_p.D98G|FCGR3A_ENST00000443193.1_Missense_Mutation_p.D133G|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.D134G|RP11-25K21.6_ENST00000537821.2_RNA	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	98	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D134G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGCACCGGGTCACTGAGGGT	0.512																																					p.D98G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A293G	1						.						127.0	124.0	125.0					1																	161518237		2203	4297	6500	159784861	SO:0001583	missense	2214	exon4			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.293A>G	1.37:g.161518237T>C	ENSP00000416607:p.Asp98Gly		159784861	NM_001127595	A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.7|28.7	4.944848|4.944848	0.92593|0.92593	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336|ENST00000426740	T;T;T;T;T;T|.	0.12984|.	2.63;2.63;2.63;2.63;2.63;2.63|.	4.43|4.43	4.43|4.43	0.53597|0.53597	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.56097|.	D|.	0.000036|.	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.90252|0.90252	3.1|3.1	0.37457|0.37457	D|D	0.915074|0.915074	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.996|.	T|T	0.78783|0.78783	-0.2069|-0.2069	10|5	0.87932|.	D|.	0|.	.|.	10.2704|10.2704	0.43479|0.43479	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	98;133;98|.	P08637;E9PG94;Q9UPY7|.	FCG3A_HUMAN;.;.|.	G|A	134;133;98;98;98;97|115	ENSP00000356946:D134G;ENSP00000392047:D133G;ENSP00000416607:D98G;ENSP00000356944:D98G;ENSP00000444971:D98G;ENSP00000396567:D97G|.	ENSP00000356944:D98G|.	D|T	-|-	2|1	0|0	FCGR3A|FCGR3A	159784861|159784861	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.798000|0.798000	0.45092|0.45092	3.351000|3.351000	0.52232|0.52232	1.989000|1.989000	0.58080|0.58080	0.482000|0.482000	0.46254|0.46254	GAC|ACC		0.512	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
NOS1AP	9722	broad.mit.edu	37	1	162337008	162337008	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:162337008C>T	ENST00000361897.5	+	10	1674	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C	NOS1AP_ENST00000530878.1_Silent_p.C419C|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000493151.1_Silent_p.C129C	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	424					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)	p.C424C(2)|p.C129C(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGCGCGACTGCTTGGTGAAGC	0.682																																					p.C129C												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C387T	1						.						50.0	56.0	54.0					1																	162337008		2203	4300	6503	160603632	SO:0001819	synonymous_variant	9722	exon2			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.1272C>T	1.37:g.162337008C>T			160603632	NM_001126060	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	CCDS1237.1																																																																																				0.682	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697	
C1orf226	400793	broad.mit.edu	37	1	162353067	162353067	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:162353067T>C	ENST00000458626.2	+	2	585	c.413T>C	c.(412-414)cTg>cCg	p.L138P	C1orf226_ENST00000426197.2_Missense_Mutation_p.L181P	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	138								p.L181P(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CAGGACATGCTGATTTCATCA	0.592																																					p.L138P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T413C	1						.						47.0	52.0	50.0					1																	162353067		1972	4159	6131	160619691	SO:0001583	missense	400793	exon2			AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.413T>C	1.37:g.162353067T>C	ENSP00000437071:p.Leu138Pro		160619691	NM_001085375	B4DF31	Missense_Mutation	SNP	ENST00000458626.2	37	CCDS53422.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154259	0.78114	.	.	ENSG00000239887	ENST00000420220;ENST00000426197;ENST00000458626	.	.	.	4.58	4.58	0.56647	.	1.669100	0.04032	N	0.301610	T	0.48589	0.1508	L	0.27053	0.805	.	.	.	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.987	T	0.38286	-0.9668	8	0.87932	D	0	-11.6005	13.23	0.59938	0.0:0.0:0.0:1.0	.	181;138	A1L170-2;A1L170	.;CA226_HUMAN	P	138;181;138	.	ENSP00000398035:L138P	L	+	2	0	C1orf226	160619691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.828000	0.75308	2.052000	0.61016	0.533000	0.62120	CTG		0.592	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375	
DDR2	4921	broad.mit.edu	37	1	162731039	162731039	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:162731039C>A	ENST00000367922.3	+	10	1332	c.894C>A	c.(892-894)atC>atA	p.I298I	DDR2_ENST00000367921.3_Silent_p.I298I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	298					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I298I(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GTGTGAAGATCTTTAAGGAGG	0.507																																					p.I298I	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C894A	1						.						172.0	125.0	141.0					1																	162731039		2203	4300	6503	160997663	SO:0001819	synonymous_variant	4921	exon10			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.894C>A	1.37:g.162731039C>A			160997663	NM_001014796	Q7Z730	Silent	SNP	ENST00000367922.3	37	CCDS1241.1																																																																																				0.507	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
CDK11A	728642	broad.mit.edu	37	1	1635294	1635294	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:1635294G>A	ENST00000378633.1	-	17	1968	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	CDK11A_ENST00000357760.2_Missense_Mutation_p.S626L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.S627L|CDK11A_ENST00000378638.2_Missense_Mutation_p.S593L|CDK11A_ENST00000356200.3_Missense_Mutation_p.S593L|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000358779.5_Missense_Mutation_p.S617L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	630	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S626L(1)|p.S642L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						ATCGATTTCCGAATTCCCGGG	0.587																																					p.S627L	Pancreas(186;965 2119 30274 40311 50569)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1880T	1						.						77.0	81.0	80.0					1																	1635294		1993	4169	6162	1625154	SO:0001583	missense	728642	exon17			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1889C>T	1.37:g.1635294G>A	ENSP00000367900:p.Ser630Leu		1625154	NM_024011	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37		.	.	.	.	.	.	.	.	.	.	-	11.12	1.545817	0.27652	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	2.37	2.37	0.29283	.	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.90019	3.08	0.80722	D	1	D;D;P	0.67145	0.996;0.996;0.886	D;D;P	0.64687	0.928;0.928;0.574	T	0.76777	-0.2834	10	0.87932	D	0	.	11.6771	0.51436	0.0:0.0:1.0:0.0	.	627;617;244	Q9UQ88-2;Q9UQ88-4;Q9UQ88-5	.;.;.	L	593;627;626;617;630;593;593	ENSP00000348529:S593L;ENSP00000384442:S627L;ENSP00000350403:S626L;ENSP00000351629:S617L;ENSP00000367900:S630L;ENSP00000367905:S593L	ENSP00000348529:S593L	S	-	2	0	CDK11A	1625154	1.000000	0.71417	0.029000	0.17559	0.002000	0.02628	4.625000	0.61262	1.345000	0.45676	0.486000	0.48141	TCG		0.587	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
DDR2	4921	broad.mit.edu	37	1	162745566	162745566	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:162745566G>T	ENST00000367922.3	+	16	2419	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.D661Y	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D661Y(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GGAGAATGGAGATCTCAATCA	0.483																																					p.D661Y	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1981T	1						.						146.0	139.0	142.0					1																	162745566		2203	4300	6503	161012190	SO:0001583	missense	4921	exon16			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1981G>T	1.37:g.162745566G>T	ENSP00000356899:p.Asp661Tyr		161012190	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690490	0.88735	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.90900	-2.75;-2.75	5.2	5.2	0.72013	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	0.97002	0.9021	H	0.96576	3.845	0.44587	D	0.997551	D	0.89917	1.0	D	0.97110	1.0	D	0.98152	1.0442	9	0.87932	D	0	.	17.6743	0.88226	0.0:0.0:1.0:0.0	.	661	Q16832	DDR2_HUMAN	Y	661	ENSP00000356899:D661Y;ENSP00000356898:D661Y	ENSP00000356898:D661Y	D	+	1	0	DDR2	161012190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.671000	0.98627	2.555000	0.86185	0.655000	0.94253	GAT		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
ALDH9A1	223	broad.mit.edu	37	1	165649907	165649907	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:165649907G>T	ENST00000354775.4	-	5	910	c.606C>A	c.(604-606)gtC>gtA	p.V202V	ALDH9A1_ENST00000538148.1_Silent_p.V108V|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	178					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.V178V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAGGTTTAAAGACCATGGCAT	0.443																																					p.V202V	Ovarian(179;1583 2014 18106 33801 42447)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C606A	1						.						93.0	94.0	94.0					1																	165649907		2203	4300	6503	163916531	SO:0001819	synonymous_variant	223	exon5			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.606C>A	1.37:g.165649907G>T			163916531	NM_000696	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	ENST00000354775.4	37	CCDS1250.2																																																																																				0.443	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1		
POU2F1	5451	broad.mit.edu	37	1	167368480	167368480	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:167368480A>C	ENST00000541643.3	+	13	1420	c.1258A>C	c.(1258-1260)Aaa>Caa	p.K420Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.K443Q|POU2F1_ENST00000367862.5_Missense_Mutation_p.K432Q|POU2F1_ENST00000420254.3_Missense_Mutation_p.K420Q|POU2F1_ENST00000429375.2_Missense_Mutation_p.K380Q			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	420					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K420Q(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CAATATGGAAAAAGAGGTGAT	0.433																																					p.K443Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1327C	1						.						126.0	122.0	124.0					1																	167368480		2203	4300	6503	165635104	SO:0001583	missense	5451	exon12			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1258A>C	1.37:g.167368480A>C	ENSP00000441285:p.Lys420Gln		165635104	NM_002697	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37		.	.	.	.	.	.	.	.	.	.	A	21.7	4.184691	0.78677	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	6.04	6.04	0.98038	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97763	0.9266	M	0.77616	2.38	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.998;0.994;0.994;0.995	D;D;D;D;D	0.75020	0.983;0.985;0.971;0.971;0.983	D	0.98693	1.0697	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	380;420;432;418;420	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	Q	443;380;418;420;420;432;328	ENSP00000356840:K443Q;ENSP00000401217:K380Q;ENSP00000356839:K418Q;ENSP00000414660:K420Q;ENSP00000441285:K420Q;ENSP00000356836:K432Q;ENSP00000415993:K328Q	ENSP00000356836:K432Q	K	+	1	0	POU2F1	165635104	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	AAA		0.433	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697	
RCSD1	92241	broad.mit.edu	37	1	167659335	167659335	+	Missense_Mutation	SNP	C	C	T	rs186993523	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:167659335C>T	ENST00000367854.3	+	4	579	c.248C>T	c.(247-249)tCg>tTg	p.S83L	RCSD1_ENST00000537350.1_Missense_Mutation_p.S53L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	83					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)	p.S83L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GTCAAGAGCTCGCCTCTGATT	0.423													C|||	4	0.000798722	0.0	0.0043	5008	,	,		21815	0.001		0.0	False		,,,				2504	0.0				p.S83L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	1						.						142.0	129.0	133.0					1																	167659335		2203	4300	6503	165925959	SO:0001583	missense	92241	exon4			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.248C>T	1.37:g.167659335C>T	ENSP00000356828:p.Ser83Leu		165925959	NM_052862	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	32	5.132397	0.94473	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.71817	-0.6;-0.39	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	D	0.82806	0.5117	M	0.76838	2.35	0.42190	D	0.991721	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.81406	-0.0947	9	0.45353	T	0.12	-12.0066	19.9564	0.97221	0.0:1.0:0.0:0.0	.	53;83	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	L	83;53	ENSP00000356828:S83L;ENSP00000439409:S53L	ENSP00000356828:S83L	S	+	2	0	RCSD1	165925959	0.998000	0.40836	0.971000	0.41717	0.998000	0.95712	4.981000	0.63819	2.708000	0.92522	0.650000	0.86243	TCG		0.423	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862	
ADCY10	55811	broad.mit.edu	37	1	167805745	167805745	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:167805745G>T	ENST00000367851.4	-	23	3295	c.3111C>A	c.(3109-3111)ttC>ttA	p.F1037L	ADCY10_ENST00000545172.1_Missense_Mutation_p.F884L|ADCY10_ENST00000367848.1_Missense_Mutation_p.F945L	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1037					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.F1037L(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						CGTGGTCAAAGAAATTCAAGA	0.323																																					p.F884L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2652A	1						.						84.0	85.0	85.0					1																	167805745		2203	4300	6503	166072369	SO:0001583	missense	55811	exon20			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.3111C>A	1.37:g.167805745G>T	ENSP00000356825:p.Phe1037Leu		166072369	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	7.812	0.715882	0.15306	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.31510	1.49;1.5;1.5	5.08	1.97	0.26223	.	0.335593	0.26546	N	0.023769	T	0.08582	0.0213	L	0.46741	1.465	0.32240	N	0.572908	B;B	0.18461	0.028;0.016	B;B	0.16722	0.016;0.007	T	0.15636	-1.0430	9	0.23302	T	0.38	-22.1817	4.2926	0.10886	0.1881:0.0:0.6323:0.1797	.	945;1037	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	L	884;1037;945	ENSP00000441992:F884L;ENSP00000356825:F1037L;ENSP00000356822:F945L	ENSP00000356822:F945L	F	-	3	2	ADCY10	166072369	1.000000	0.71417	0.991000	0.47740	0.249000	0.25844	0.745000	0.26259	0.819000	0.34492	0.655000	0.94253	TTC		0.323	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
ADCY10	55811	broad.mit.edu	37	1	167865926	167865926	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:167865926T>C	ENST00000367851.4	-	7	830	c.646A>G	c.(646-648)Aac>Gac	p.N216D	ADCY10_ENST00000545172.1_Missense_Mutation_p.N63D|ADCY10_ENST00000367848.1_Missense_Mutation_p.N124D	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	216					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.N216D(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						TTTAAGAAGTTAACCTAAATA	0.323																																					p.N63D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A187G	1						.						81.0	94.0	90.0					1																	167865926		2203	4300	6503	166132550	SO:0001583	missense	55811	exon4			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.646A>G	1.37:g.167865926T>C	ENSP00000356825:p.Asn216Asp		166132550	NM_001167749	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754296	0.49362	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.31247	1.55;1.5;1.51	5.32	5.32	0.75619	.	0.700897	0.14079	N	0.342837	T	0.05777	0.0151	N	0.08118	0	0.25130	N	0.990575	P;P;P	0.43231	0.763;0.763;0.801	B;B;B	0.36608	0.229;0.163;0.192	T	0.06643	-1.0815	9	0.11485	T	0.65	-8.8882	11.961	0.53009	0.0:0.0:0.0:1.0	.	63;124;216	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	D	63;216;124	ENSP00000441992:N63D;ENSP00000356825:N216D;ENSP00000356822:N124D	ENSP00000356822:N124D	N	-	1	0	ADCY10	166132550	0.996000	0.38824	0.998000	0.56505	0.814000	0.46013	2.351000	0.44071	2.133000	0.65898	0.528000	0.53228	AAC		0.323	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417	
GPR161	23432	broad.mit.edu	37	1	168054942	168054942	+	Missense_Mutation	SNP	C	C	T	rs199866265		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:168054942C>T	ENST00000367838.1	-	8	1730	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	GPR161_ENST00000367836.1_Missense_Mutation_p.E341K|GPR161_ENST00000546300.1_Missense_Mutation_p.E359K|GPR161_ENST00000367835.1_Missense_Mutation_p.E473K|GPR161_ENST00000539777.1_Missense_Mutation_p.E395K|GPR161_ENST00000271357.5_Missense_Mutation_p.E473K|GPR161_ENST00000537209.1_Missense_Mutation_p.E493K|GPR161_ENST00000361697.2_Missense_Mutation_p.E473K	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	473					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.E473K(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					ATTTTGGCTTCGGCCTCAATG	0.567													c|||	1	0.000199681	0.0	0.0	5008	,	,		20610	0.0		0.001	False		,,,				2504	0.0				p.E473K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417A	1						.						70.0	71.0	71.0					1																	168054942		2203	4300	6503	166321566	SO:0001583	missense	23432	exon8			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1417G>A	1.37:g.168054942C>T	ENSP00000356812:p.Glu473Lys		166321566	NM_153832	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	CCDS1268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	25.7	4.666890	0.88251	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.82255	-0.12;-0.12;-1.59;-0.12;-1.13;-1.11;-0.04;-0.12	5.94	5.94	0.96194	.	0.048446	0.85682	D	0.000000	T	0.58538	0.2129	N	0.08118	0	0.28328	N	0.921907	P;P;P;P;P	0.48230	0.846;0.76;0.907;0.76;0.555	B;B;B;B;B	0.34138	0.131;0.038;0.176;0.062;0.038	T	0.72057	-0.4405	9	0.72032	D	0.01	-16.2524	19.9728	0.97289	0.0:1.0:0.0:0.0	.	493;359;395;493;473	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8	.;.;.;.;GP161_HUMAN	K	473;473;341;473;359;395;493;473	ENSP00000356812:E473K;ENSP00000271357:E473K;ENSP00000356810:E341K;ENSP00000356809:E473K;ENSP00000444348:E359K;ENSP00000437576:E395K;ENSP00000441039:E493K;ENSP00000355194:E473K	ENSP00000271357:E473K	E	-	1	0	GPR161	166321566	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.343000	0.79319	2.816000	0.96949	0.645000	0.84053	GAA		0.567	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	
BLZF1	8548	broad.mit.edu	37	1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169347745C>T	ENST00000367808.3	+	4	1069	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_ENST00000329281.2_Nonsense_Mutation_p.R216*			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	216					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.R216*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363																																					p.R216X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C646T	1						.						95.0	97.0	97.0					1																	169347745		2203	4300	6503	167614369	SO:0001587	stop_gained	8548	exon4			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.646C>T	1.37:g.169347745C>T	ENSP00000356782:p.Arg216*		167614369	NM_003666	O15298|Q5T531|Q5T533|Q9GZX4	Nonsense_Mutation	SNP	ENST00000367808.3	37	CCDS1278.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062399	0.97246	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000426663	.	.	.	6.17	4.25	0.50352	.	0.055634	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7065	15.4433	0.75204	0.3705:0.6295:0.0:0.0	.	.	.	.	X	216	.	ENSP00000327541:R216X	R	+	1	2	BLZF1	167614369	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.079000	0.50104	0.864000	0.35578	0.655000	0.94253	CGA		0.363	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	NM_003666	
F5	2153	broad.mit.edu	37	1	169511880	169511880	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169511880C>A	ENST00000367797.3	-	13	2649	c.2448G>T	c.(2446-2448)aaG>aaT	p.K816N	F5_ENST00000367796.3_Missense_Mutation_p.K821N	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	816	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.K816N(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)	GAACTGAGTTCTTGCCAATGA	0.483																																					p.K816N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2448T	1						.						170.0	167.0	168.0					1																	169511880		2203	4300	6503	167778504	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.2448G>T	1.37:g.169511880C>A	ENSP00000356771:p.Lys816Asn		167778504	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308931	0.23821	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.24151	1.87;1.87	5.8	2.39	0.29439	.	0.837341	0.11450	N	0.562895	T	0.08313	0.0207	L	0.46157	1.445	0.22112	N	0.999352	B	0.15473	0.013	B	0.14023	0.01	T	0.19844	-1.0293	9	0.30854	T	0.27	-5.2164	6.2873	0.21041	0.1369:0.6472:0.1334:0.0825	.	816	P12259	FA5_HUMAN	N	816;821	ENSP00000356771:K816N;ENSP00000356770:K821N	ENSP00000356770:K821N	K	-	3	2	F5	167778504	0.004000	0.15560	0.060000	0.19600	0.021000	0.10359	0.803000	0.27083	0.764000	0.33197	-0.515000	0.04445	AAG		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169526090	169526090	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169526090G>A	ENST00000367797.3	-	6	947	c.746C>T	c.(745-747)gCc>gTc	p.A249V	F5_ENST00000546081.1_Missense_Mutation_p.A112V|F5_ENST00000367796.3_Missense_Mutation_p.A249V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	249	F5/8 type A 1.|Plastocyanin-like 2.				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.A249V(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)	GTGGTCATGGGCACAAACTGT	0.463																																					p.A249V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746T	1	GRCh37	CM950384	F5	M		.						64.0	56.0	58.0					1																	169526090		2203	4300	6503	167792714	SO:0001583	missense	2153	exon6			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.746C>T	1.37:g.169526090G>A	ENSP00000356771:p.Ala249Val		167792714	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200414	0.79015	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99709	-6.48;-6.48;-6.48	6.07	6.07	0.98685	Cupredoxin (2);	0.196194	0.52532	D	0.000069	D	0.99089	0.9687	L	0.41027	1.25	0.31244	N	0.6948529999999999	D	0.69078	0.997	P	0.61874	0.895	D	0.99906	1.1181	9	0.11485	T	0.65	-23.1495	15.7416	0.77901	0.0667:0.0:0.9333:0.0	.	249	P12259	FA5_HUMAN	V	249;249;112	ENSP00000356771:A249V;ENSP00000356770:A249V;ENSP00000439664:A112V	ENSP00000356770:A249V	A	-	2	0	F5	167792714	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	7.594000	0.82698	2.890000	0.99128	0.650000	0.86243	GCC		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
F5	2153	broad.mit.edu	37	1	169551753	169551753	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169551753G>T	ENST00000367797.3	-	2	367	c.166C>A	c.(166-168)Ctt>Att	p.L56I	F5_ENST00000546081.1_Intron|F5_ENST00000367796.3_Missense_Mutation_p.L56I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	56	F5/8 type A 1.|Plastocyanin-like 1.				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.L56I(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)	GTTACAGAAAGATTCAAACTG	0.279																																					p.L56I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C166A	1						.						25.0	26.0	25.0					1																	169551753		2160	4242	6402	167818377	SO:0001583	missense	2153	exon2			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.166C>A	1.37:g.169551753G>T	ENSP00000356771:p.Leu56Ile		167818377	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974460	0.18736	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98958	-5.27;-5.27	5.68	-6.99	0.01605	Cupredoxin (2);	1.139280	0.06300	N	0.700645	D	0.87229	0.6125	N	0.14661	0.345	0.09310	N	0.999995	B	0.21520	0.057	B	0.16722	0.016	D	0.85483	0.1180	10	0.37606	T	0.19	0.0812	1.4194	0.02309	0.2612:0.1005:0.1781:0.4602	.	56	P12259	FA5_HUMAN	I	56	ENSP00000356771:L56I;ENSP00000356770:L56I	ENSP00000356770:L56I	L	-	1	0	F5	167818377	0.000000	0.05858	0.103000	0.21229	0.698000	0.40448	-1.054000	0.03496	-1.271000	0.02430	-0.172000	0.13284	CTT		0.279	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	broad.mit.edu	37	1	169586354	169586354	+	Silent	SNP	G	G	A	rs374152128		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169586354G>A	ENST00000263686.6	-	3	430	c.393C>T	c.(391-393)tgC>tgT	p.C131C	SELP_ENST00000458599.2_Silent_p.C131C|SELP_ENST00000367793.2_Silent_p.C131C|SELP_ENST00000367786.2_Silent_p.C131C|SELP_ENST00000367792.2_Silent_p.C131C|SELP_ENST00000367791.2_Silent_p.C131C|SELP_ENST00000367788.2_Silent_p.C131C|SELP_ENST00000367794.2_Silent_p.C131C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	131	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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.C131C(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)	ATATCTCCACGCAGTCCTCGT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17112	0.001		0.0	False		,,,				2504	0.0				p.C131C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	255.0	233.0	240.0		393	-8.3	0.9	1		240	0,8600		0,0,4300	no	coding-synonymous	SELP	NM_003005.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		131/831	169586354	1,13005	2203	4300	6503	167852978	SO:0001819	synonymous_variant	6403	exon3			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.393C>T	1.37:g.169586354G>A			167852978	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	9.885	1.202544	0.22121	2.27E-4	0.0	ENSG00000174175	ENST00000446728	.	.	.	5.79	-8.26	0.01021	.	.	.	.	.	T	0.50446	0.1616	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67409	-0.5678	4	.	.	.	-19.8016	17.3003	0.87181	0.8117:0.0:0.1883:0.0	.	.	.	.	C	131	.	.	R	-	1	0	SELP	167852978	0.000000	0.05858	0.887000	0.34795	0.867000	0.49689	-1.695000	0.01913	-1.454000	0.01926	-0.251000	0.11542	CGT		0.483	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
SELE	6401	broad.mit.edu	37	1	169702735	169702735	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:169702735G>T	ENST00000333360.7	-	2	158	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	SELE_ENST00000367780.4_Missense_Mutation_p.L7I|SELE_ENST00000367774.1_Missense_Mutation_p.L7I|SELE_ENST00000367776.1_Missense_Mutation_p.L7I|SELE_ENST00000367777.1_Missense_Mutation_p.L7I|SELE_ENST00000367781.4_Missense_Mutation_p.L7I|SELE_ENST00000367782.4_Missense_Mutation_p.L7I|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.L7I|SELE_ENST00000367775.1_Missense_Mutation_p.L7I	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	7					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.L7I(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)	AGAGCTGAGAGAAACTGTGAA	0.393																																					p.L7I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19A	1						.						150.0	156.0	154.0					1																	169702735		2203	4300	6503	167969359	SO:0001583	missense	6401	exon2			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.19C>A	1.37:g.169702735G>T	ENSP00000331736:p.Leu7Ile		167969359	NM_000450	A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860376	0.32884	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.23147	1.97;1.92;2.1;1.92;1.97;1.92;2.1;1.97;1.92	4.84	1.88	0.25563	.	0.254981	0.20850	N	0.084551	T	0.13927	0.0337	M	0.75447	2.3	0.09310	N	1	D	0.58268	0.982	P	0.48598	0.583	T	0.08146	-1.0736	10	0.22109	T	0.4	-11.1635	4.3965	0.11365	0.1995:0.1885:0.612:0.0	.	7	P16581	LYAM2_HUMAN	I	7	ENSP00000356755:L7I;ENSP00000356756:L7I;ENSP00000356754:L7I;ENSP00000356753:L7I;ENSP00000331736:L7I;ENSP00000356751:L7I;ENSP00000356749:L7I;ENSP00000356750:L7I;ENSP00000356748:L7I	ENSP00000331736:L7I	L	-	1	0	SELE	167969359	0.702000	0.27816	0.036000	0.18154	0.021000	0.10359	0.773000	0.26661	0.692000	0.31613	-0.214000	0.12660	CTC		0.393	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
MROH9	80133	broad.mit.edu	37	1	170940963	170940963	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:170940963G>A	ENST00000367758.3	+	8	654	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MROH9_ENST00000367759.4_Silent_p.S185S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	185								p.S185S(1)									AAGATCCCTCGATTGTAAAAC	0.438																																					p.S185S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G555A	1						.						308.0	276.0	286.0					1																	170940963		1954	4142	6096	169207587	SO:0001819	synonymous_variant	80133	exon8			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.555G>A	1.37:g.170940963G>A			169207587	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	CCDS41436.1																																																																																				0.438	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
PRRC2C	23215	broad.mit.edu	37	1	171509871	171509871	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:171509871T>G	ENST00000338920.4	+	16	3497	c.3260T>G	c.(3259-3261)tTt>tGt	p.F1087C	PRRC2C_ENST00000426496.2_Missense_Mutation_p.F1087C|PRRC2C_ENST00000392078.3_Missense_Mutation_p.F1089C|PRRC2C_ENST00000367742.3_Missense_Mutation_p.F1089C	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1087					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.F1089C(1)									GCAGAGAAATTTCCTTCAACA	0.488																																					p.F1087C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3260G	1						.						92.0	100.0	98.0					1																	171509871		2203	4300	6503	169776495	SO:0001583	missense	23215	exon16			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3260T>G	1.37:g.171509871T>G	ENSP00000343629:p.Phe1087Cys		169776495	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.518808	0.00967	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.01887	4.58;4.58;4.58;4.58	5.6	-8.56	0.00904	.	2.619140	0.01480	N	0.016651	T	0.00608	0.0020	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40869	-0.9540	10	0.37606	T	0.19	.	12.0033	0.53243	0.0:0.3325:0.4814:0.1861	.	1087	Q9Y520-4	.	C	1089;1088;1087;1089;1087;844	ENSP00000375928:F1089C;ENSP00000410219:F1087C;ENSP00000356716:F1089C;ENSP00000343629:F1087C	ENSP00000343629:F1087C	F	+	2	0	PRRC2C	169776495	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.940000	0.03929	-1.340000	0.02227	-0.321000	0.08615	TTT		0.488	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
DNM3	26052	broad.mit.edu	37	1	172001594	172001594	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:172001594G>A	ENST00000355305.5	+	5	799	c.642G>A	c.(640-642)acG>acA	p.T214T	DNM3_ENST00000358155.4_Silent_p.T214T|DNM3_ENST00000520906.1_Silent_p.T214T|DNM3_ENST00000367733.2_Silent_p.T214T|DNM3_ENST00000367731.1_Silent_p.T214T			Q9UQ16	DYN3_HUMAN	dynamin 3	214	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T214T(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGAAGGAACGGATGCCAGGG	0.373																																					p.T214T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G642A	1						.						179.0	172.0	174.0					1																	172001594		1886	4123	6009	170268217	SO:0001819	synonymous_variant	26052	exon5			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.642G>A	1.37:g.172001594G>A			170268217	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																					0.373	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
SUCO	51430	broad.mit.edu	37	1	172544672	172544672	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:172544672A>C	ENST00000263688.3	+	11	1391	c.1172A>C	c.(1171-1173)aAg>aCg	p.K391T	SUCO_ENST00000608151.1_Missense_Mutation_p.K550T|SUCO_ENST00000610051.1_Missense_Mutation_p.K354T|SUCO_ENST00000367723.4_Missense_Mutation_p.K549T	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	391	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.K550T(1)|p.K391T(1)									CCAACAAATAAGTGGATTAAG	0.274																																					p.K391T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1172C	1						.						82.0	83.0	83.0					1																	172544672		2203	4296	6499	170811295	SO:0001583	missense	51430	exon11			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1172A>C	1.37:g.172544672A>C	ENSP00000263688:p.Lys391Thr		170811295	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054720	0.75960	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	T;T	0.45276	0.9;0.9	5.49	5.49	0.81192	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (2);	0.043012	0.85682	D	0.000000	T	0.40448	0.1117	N	0.20574	0.59	0.80722	D	1	D;P;D;D	0.89917	0.998;0.949;1.0;1.0	D;P;D;D	0.91635	0.975;0.875;0.998;0.999	T	0.48736	-0.9009	10	0.62326	D	0.03	-20.7321	14.7072	0.69200	1.0:0.0:0.0:0.0	.	354;391;550;391	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	T	550;391	ENSP00000356696:K550T;ENSP00000263688:K391T	ENSP00000263688:K391T	K	+	2	0	C1orf9	170811295	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.235000	0.95353	2.216000	0.71823	0.377000	0.23210	AAG		0.274	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SUCO	51430	broad.mit.edu	37	1	172579070	172579070	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:172579070G>T	ENST00000263688.3	+	24	3655	c.3436G>T	c.(3436-3438)Gat>Tat	p.D1146Y	SUCO_ENST00000608151.1_Missense_Mutation_p.D1298Y|SUCO_ENST00000610051.1_Missense_Mutation_p.D775Y|SUCO_ENST00000367723.4_Missense_Mutation_p.D1297Y	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1146					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.D1298Y(1)|p.D1146Y(1)									GAACCAGAGAGATTTTTCTAA	0.388																																					p.D1146Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3436T	1						.						97.0	100.0	99.0					1																	172579070		2203	4300	6503	170845693	SO:0001583	missense	51430	exon24			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3436G>T	1.37:g.172579070G>T	ENSP00000263688:p.Asp1146Tyr		170845693	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149341	0.57151	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.56	5.56	0.83823	.	0.277492	0.36002	N	0.002853	T	0.73659	0.3615	M	0.65975	2.015	0.49213	D	0.999764	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.70227	0.953;0.968;0.968	T	0.75252	-0.3383	9	0.62326	D	0.03	-19.0758	18.0863	0.89458	0.0:0.0:1.0:0.0	.	775;1298;1146	B4DYM4;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Y	1298;1146	.	ENSP00000263688:D1146Y	D	+	1	0	C1orf9	170845693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.583000	0.60964	2.617000	0.88574	0.650000	0.86243	GAT		0.388	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
SLC9C2	284525	broad.mit.edu	37	1	173476170	173476170	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:173476170A>C	ENST00000367714.3	-	25	3472	c.3050T>G	c.(3049-3051)tTt>tGt	p.F1017C	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1017					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.F1017C(1)									ACAGTTCTGAAACCTTAAGTC	0.289																																					p.F1017C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3050G	1						.						81.0	90.0	87.0					1																	173476170		2202	4298	6500	171742793	SO:0001583	missense	284525	exon25			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.3050T>G	1.37:g.173476170A>C	ENSP00000356687:p.Phe1017Cys		171742793	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.829741	0.32329	.	.	ENSG00000162753	ENST00000367714	T	0.04360	3.64	5.75	3.32	0.38043	.	0.222920	0.31847	N	0.006966	T	0.06416	0.0165	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.12016	-1.0564	10	0.66056	D	0.02	-29.4508	3.9755	0.09472	0.6732:0.0:0.0994:0.2274	.	1017	Q5TAH2	S9A11_HUMAN	C	1017	ENSP00000356687:F1017C	ENSP00000356687:F1017C	F	-	2	0	SLC9A11	171742793	1.000000	0.71417	0.941000	0.38009	0.082000	0.17680	2.462000	0.45049	1.004000	0.39156	0.460000	0.39030	TTT		0.289	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
PADI1	29943	broad.mit.edu	37	1	17567231	17567231	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:17567231C>T	ENST00000375471.4	+	15	1826	c.1734C>T	c.(1732-1734)taC>taT	p.Y578Y	PADI1_ENST00000537499.1_Silent_p.Y135Y|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Silent_p.Y49Y|PADI1_ENST00000413717.2_Intron	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	578					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Y578Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACTTCTACGCGGAAGCCT	0.587																																					p.Y578Y	Esophageal Squamous(80;414 1257 4580 27746 50832)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1734T	1						.						106.0	103.0	104.0					1																	17567231		2203	4300	6503	17439818	SO:0001819	synonymous_variant	29943	exon15			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1734C>T	1.37:g.17567231C>T			17439818	NM_013358	A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	CCDS178.1																																																																																				0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358	
SLC9C2	284525	broad.mit.edu	37	1	173542451	173542451	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:173542451A>C	ENST00000367714.3	-	9	1338	c.916T>G	c.(916-918)Ttt>Gtt	p.F306V	SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.F204V	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	306					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.F306V(1)									ACAGATGAAAAAATTCTTAAG	0.264																																					p.F306V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T916G	1						.						32.0	34.0	34.0					1																	173542451		2200	4290	6490	171809074	SO:0001583	missense	284525	exon9			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.916T>G	1.37:g.173542451A>C	ENSP00000356687:p.Phe306Val		171809074	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	7.534	0.659234	0.14645	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.05081	3.5;3.5	5.17	0.036	0.14190	Cation/H+ exchanger (1);	0.493944	0.18879	N	0.128611	T	0.01489	0.0048	L	0.44542	1.39	0.09310	N	1	P	0.34462	0.454	B	0.34931	0.192	T	0.46857	-0.9161	10	0.23891	T	0.37	-12.8049	3.7965	0.08741	0.565:0.0:0.2775:0.1575	.	306	Q5TAH2	S9A11_HUMAN	V	306;204	ENSP00000356687:F306V;ENSP00000445437:F204V	ENSP00000356687:F306V	F	-	1	0	SLC9A11	171809074	0.253000	0.23982	0.356000	0.25785	0.073000	0.16967	0.701000	0.25616	0.322000	0.23283	0.533000	0.62120	TTT		0.264	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
PAPPA2	60676	broad.mit.edu	37	1	176526002	176526002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:176526002G>T	ENST00000367662.3	+	2	1708	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.E182*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	182					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.E182K(2)|p.E182*(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						AACCCTGAACGAACCCAAACC	0.587																																					p.E182X												.	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	lung(2)|large_intestine(1)	c.G544T	1						.						99.0	103.0	102.0					1																	176526002		2009	4178	6187	174792625	SO:0001587	stop_gained	60676	exon2			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.544G>T	1.37:g.176526002G>T	ENSP00000356634:p.Glu182*		174792625	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	45	11.646732	0.99586	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	4.26	2.33	0.28932	.	1.250560	0.06075	U	0.660727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	6.461	0.21956	0.2067:0.0:0.7933:0.0	.	.	.	.	X	182	.	ENSP00000356633:E182X	E	+	1	0	PAPPA2	174792625	0.002000	0.14202	0.013000	0.15412	0.023000	0.10783	0.911000	0.28584	1.936000	0.56123	0.561000	0.74099	GAA		0.587	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ASTN1	460	broad.mit.edu	37	1	176845724	176845724	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:176845724C>T	ENST00000367654.3	-	21	3647	c.3436G>A	c.(3436-3438)Gac>Aac	p.D1146N	ASTN1_ENST00000367657.3_Missense_Mutation_p.D1138N|ASTN1_ENST00000424564.2_Missense_Mutation_p.D1138N|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1138N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1146					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.D1138N(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						ACGATCACGTCGCTTGGCCTG	0.582																																					p.D1138N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3412A	1						.						137.0	104.0	115.0					1																	176845724		2203	4300	6503	175112347	SO:0001583	missense	460	exon21			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.3436G>A	1.37:g.176845724C>T	ENSP00000356626:p.Asp1146Asn		175112347	NM_004319	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	11.82	1.753772	0.31046	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.19	5.19	0.71726	.	0.102547	0.64402	D	0.000003	T	0.20577	0.0495	N	0.14661	0.345	0.44918	D	0.99793	P;P	0.42871	0.792;0.792	B;B	0.25759	0.063;0.063	T	0.08371	-1.0725	10	0.27082	T	0.32	-22.4939	13.9878	0.64345	0.0:0.8481:0.1518:0.0	.	1138;1138	O14525-2;B1AJS1	.;.	N	1138;1138;1146;1138;1138	ENSP00000356629:D1138N;ENSP00000354536:D1138N;ENSP00000356626:D1146N;ENSP00000395041:D1138N	ENSP00000354536:D1138N	D	-	1	0	ASTN1	175112347	1.000000	0.71417	0.219000	0.23793	0.221000	0.24807	5.384000	0.66225	2.400000	0.81607	0.655000	0.94253	GAC		0.582	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TEX35	84066	broad.mit.edu	37	1	178485789	178485789	+	Missense_Mutation	SNP	G	G	A	rs200491990		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:178485789G>A	ENST00000319416.2	+	5	368	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	TEX35_ENST00000367643.3_Missense_Mutation_p.E86K|TEX35_ENST00000258298.2_Missense_Mutation_p.E10K|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367641.3_Missense_Mutation_p.E86K|TEX35_ENST00000367639.1_Missense_Mutation_p.E94K	NM_032126.4	NP_115502.2			testis expressed 35									p.E86K(1)									TAAACTTCACGAATTTGTGGA	0.433																																					p.E86K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	1						.						114.0	100.0	105.0					1																	178485789		2203	4300	6503	176752412	SO:0001583	missense	84066	exon5			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.256G>A	1.37:g.178485789G>A	ENSP00000323795:p.Glu86Lys		176752412	NM_001170723		Missense_Mutation	SNP	ENST00000319416.2	37	CCDS1323.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155503	0.78114	.	.	ENSG00000240021	ENST00000319416;ENST00000258298;ENST00000367643;ENST00000367641;ENST00000367639	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.12	4.19	0.49359	.	0.145433	0.32161	N	0.006499	T	0.27900	0.0687	L	0.50333	1.59	0.32634	N	0.521625	P;P;D	0.56287	0.874;0.95;0.975	B;B;P	0.47827	0.296;0.404;0.558	T	0.38265	-0.9669	10	0.56958	D	0.05	-22.7736	8.8704	0.35311	0.0998:0.0:0.9002:0.0	.	94;86;86	Q5T0J7-2;Q5T0J7-3;Q5T0J7	.;.;CA049_HUMAN	K	86;10;86;86;94	ENSP00000323795:E86K;ENSP00000258298:E10K;ENSP00000356615:E86K;ENSP00000356613:E86K;ENSP00000356611:E94K	ENSP00000258298:E10K	E	+	1	0	C1orf49	176752412	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.748000	0.47483	2.542000	0.85734	0.655000	0.94253	GAA		0.433	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084917.1	NM_032126	
ACBD6	84320	broad.mit.edu	37	1	180382535	180382535	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:180382535G>A	ENST00000367595.3	-	5	1226	c.539C>T	c.(538-540)tCg>tTg	p.S180L	ACBD6_ENST00000475338.2_5'Flank	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	180						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.S180L(1)	ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CACATTTTTCGATTTGATGGC	0.343																																					p.S180L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C539T	1						.						276.0	259.0	265.0					1																	180382535		2202	4299	6501	178649158	SO:0001583	missense	84320	exon5			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.539C>T	1.37:g.180382535G>A	ENSP00000356567:p.Ser180Leu		178649158	NM_032360		Missense_Mutation	SNP	ENST00000367595.3	37	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638602	0.47153	.	.	ENSG00000135847	ENST00000367595	T	0.73047	-0.71	5.63	2.68	0.31781	Ankyrin repeat-containing domain (4);	0.190000	0.47852	N	0.000208	T	0.61236	0.2331	L	0.49640	1.575	0.48395	D	0.999647	B	0.13594	0.008	B	0.10450	0.005	T	0.56353	-0.7993	10	0.62326	D	0.03	-1.6421	7.5969	0.28054	0.1468:0.1347:0.7185:0.0	.	180	Q9BR61	ACBD6_HUMAN	L	180	ENSP00000356567:S180L	ENSP00000356567:S180L	S	-	2	0	ACBD6	178649158	1.000000	0.71417	0.688000	0.30117	0.857000	0.48899	4.113000	0.57851	0.380000	0.24823	-0.157000	0.13467	TCG		0.343	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
CACNA1E	777	broad.mit.edu	37	1	181705499	181705499	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:181705499G>T	ENST00000367573.2	+	22	3351	c.3351G>T	c.(3349-3351)aaG>aaT	p.K1117N	CACNA1E_ENST00000367570.1_Missense_Mutation_p.K1117N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K1098N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K724N|CACNA1E_ENST00000526775.1_Missense_Mutation_p.K1098N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K1068N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1049N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1117					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.K1117N(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						agaagcagaagaaggagaagC	0.542																																					p.K1117N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3351T	1						.						96.0	123.0	114.0					1																	181705499		2175	4254	6429	179972122	SO:0001583	missense	777	exon22			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.3351G>T	1.37:g.181705499G>T	ENSP00000356545:p.Lys1117Asn		179972122	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302985	0.23736	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.04	2.16	0.27623	.	0.785086	0.12692	N	0.447143	T	0.15652	0.0377	N	0.03608	-0.345	0.47698	D	0.999493	P;B;P	0.42518	0.589;0.227;0.782	B;B;B	0.37888	0.173;0.079;0.26	T	0.03354	-1.1045	10	0.51188	T	0.08	.	7.3446	0.26656	0.437:0.0:0.563:0.0	.	1098;1117;1117	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	N	1117;1098;1068;1049;724;1098;1117	ENSP00000356542:K1117N;ENSP00000434814:K1098N;ENSP00000350183:K1068N;ENSP00000351101:K1049N;ENSP00000356539:K724N;ENSP00000353222:K1098N;ENSP00000356545:K1117N	ENSP00000350183:K1068N	K	+	3	2	CACNA1E	179972122	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.253000	0.43205	0.176000	0.19873	0.555000	0.69702	AAG		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
CACNA1E	777	broad.mit.edu	37	1	181745240	181745240	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:181745240C>A	ENST00000367573.2	+	38	5143	c.5143C>A	c.(5143-5145)Ctc>Atc	p.L1715I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1715I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1696I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1322I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.L1696I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1666I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1647I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1715					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.L1715I(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						CCTTCAGATGCTCAACCTGTT	0.547																																					p.L1715I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5143A	1						.						230.0	229.0	229.0					1																	181745240		2002	4181	6183	180011863	SO:0001583	missense	777	exon38			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.5143C>A	1.37:g.181745240C>A	ENSP00000356545:p.Leu1715Ile		180011863	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018641	0.93404	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09;-5.09;-5.09	5.83	4.89	0.63831	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98979	0.9652	M	0.76574	2.34	0.80722	D	1	P;D;D	0.89917	0.91;1.0;0.998	P;D;D	0.91635	0.906;0.999;0.99	D	0.99761	1.1021	10	0.87932	D	0	.	15.6974	0.77512	0.138:0.862:0.0:0.0	.	1696;1715;1715	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	I	1715;1696;1666;1647;1322;1696;1715	ENSP00000356542:L1715I;ENSP00000434814:L1696I;ENSP00000350183:L1666I;ENSP00000351101:L1647I;ENSP00000356539:L1322I;ENSP00000353222:L1696I;ENSP00000356545:L1715I	ENSP00000350183:L1666I	L	+	1	0	CACNA1E	180011863	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.881000	0.56152	1.414000	0.47017	0.655000	0.94253	CTC		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
GLUL	2752	broad.mit.edu	37	1	182353584	182353584	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:182353584G>T	ENST00000331872.6	-	7	1618	c.1078C>A	c.(1078-1080)Ctt>Att	p.L360I	GLUL_ENST00000339526.4_Missense_Mutation_p.L360I|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.L360I|GLUL_ENST00000311223.5_Missense_Mutation_p.L360I	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	360					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.L360I(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCATTGAGAAGACACGTGCGG	0.537																																					p.L360I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078A	1						.						42.0	41.0	42.0					1																	182353584		2203	4300	6503	180620207	SO:0001583	missense	2752	exon8			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.1078C>A	1.37:g.182353584G>T	ENSP00000356537:p.Leu360Ile		180620207	NM_002065	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032306	0.35893	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.34	5.34	0.76211	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.065655	0.64402	D	0.000008	T	0.79358	0.4432	N	0.21508	0.67	0.51482	D	0.999924	B	0.02656	0.0	B	0.13407	0.009	T	0.71961	-0.4434	10	0.07030	T	0.85	-21.2157	12.6607	0.56811	0.0:0.0:0.8345:0.1655	.	360	P15104	GLNA_HUMAN	I	360	ENSP00000356537:L360I;ENSP00000307900:L360I;ENSP00000398320:L360I;ENSP00000344958:L360I	ENSP00000307900:L360I	L	-	1	0	GLUL	180620207	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	2.381000	0.44336	2.488000	0.83962	0.563000	0.77884	CTT		0.537	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	
RNASEL	6041	broad.mit.edu	37	1	182545493	182545493	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:182545493T>G	ENST00000367559.3	-	6	2190	c.1937A>C	c.(1936-1938)aAg>aCg	p.K646T	RNASEL_ENST00000444138.1_Missense_Mutation_p.K646T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	646	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.K646T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCATAAAACTTATTCATTTT	0.294																																					p.K646T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1937C	1						.						47.0	48.0	47.0					1																	182545493		2201	4293	6494	180812116	SO:0001583	missense	6041	exon6			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1937A>C	1.37:g.182545493T>G	ENSP00000356530:p.Lys646Thr		180812116	NM_021133	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	T	3.826	-0.036742	0.07497	.	.	ENSG00000135828	ENST00000367559;ENST00000444138	T;T	0.34859	1.34;1.34	5.23	-10.5	0.00291	KEN domain, ribonuclease activator (2);	3.637770	0.00718	N	0.000860	T	0.21387	0.0515	L	0.47716	1.5	0.09310	N	0.999999	B	0.23185	0.081	B	0.22152	0.038	T	0.18871	-1.0323	10	0.13853	T	0.58	1.1321	1.6409	0.02752	0.1875:0.197:0.3733:0.2423	.	646	Q05823	RN5A_HUMAN	T	646	ENSP00000356530:K646T;ENSP00000411147:K646T	ENSP00000356530:K646T	K	-	2	0	RNASEL	180812116	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.538000	0.00219	-1.938000	0.01046	-2.254000	0.00282	AAG		0.294	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133	
SHCBP1L	81626	broad.mit.edu	37	1	182908473	182908473	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:182908473T>G	ENST00000367547.3	-	5	1150	c.914A>C	c.(913-915)aAa>aCa	p.K305T	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.K186T	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	377								p.K305T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CTCCAAAGTTTTTTTAAAACG	0.343																																					p.K305T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A914C	1						.						68.0	66.0	66.0					1																	182908473		2203	4300	6503	181175096	SO:0001583	missense	81626	exon5			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.914A>C	1.37:g.182908473T>G	ENSP00000356518:p.Lys305Thr		181175096	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258903	0.59321	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.45276	0.9;0.91	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000013	T	0.49592	0.1566	L	0.51422	1.61	0.34995	D	0.7554	D;D;D	0.65815	0.991;0.976;0.995	P;P;P	0.60345	0.749;0.784;0.873	T	0.60915	-0.7168	10	0.40728	T	0.16	-20.2148	7.4714	0.27351	0.0:0.0977:0.0:0.9023	.	377;186;305	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	T	305;374;186	ENSP00000356518:K305T;ENSP00000397308:K186T	ENSP00000287709:K374T	K	-	2	0	SHCBP1L	181175096	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.606000	0.36826	1.873000	0.54277	0.460000	0.39030	AAA		0.343	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
APOBEC4	403314	broad.mit.edu	37	1	183617370	183617370	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:183617370G>A	ENST00000308641.4	-	2	818	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000536277.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	183					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.R183W(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						AAAACAACCCGCGGCCATAAG	0.468																																					p.R183W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547T	1						.						46.0	50.0	49.0					1																	183617370		2203	4300	6503	181883993	SO:0001583	missense	403314	exon2			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.547C>T	1.37:g.183617370G>A	ENSP00000310622:p.Arg183Trp		181883993	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383112	0.25031	.	.	ENSG00000173627	ENST00000308641	T	0.65549	-0.16	5.0	4.06	0.47325	.	0.778256	0.11474	N	0.560389	T	0.59514	0.2199	N	0.24115	0.695	0.21897	N	0.999481	D	0.56035	0.974	P	0.51266	0.664	T	0.52472	-0.8571	10	0.49607	T	0.09	-17.8513	13.9545	0.64140	0.0:0.0:0.8316:0.1684	.	183	Q8WW27	ABEC4_HUMAN	W	183	ENSP00000310622:R183W	ENSP00000310622:R183W	R	-	1	2	APOBEC4	181883993	0.004000	0.15560	0.487000	0.27428	0.420000	0.31355	1.033000	0.30191	1.023000	0.39654	0.655000	0.94253	CGG		0.468	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454	
COLGALT2	23127	broad.mit.edu	37	1	183938423	183938423	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:183938423G>A	ENST00000361927.4	-	5	1183	c.812C>T	c.(811-813)gCc>gTc	p.A271V	COLGALT2_ENST00000546159.1_Missense_Mutation_p.A271V	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	271					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.A271V(1)									GCTGGAGAAGGCAAAGACAAT	0.473																																					p.A271V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812T	1						.						104.0	92.0	96.0					1																	183938423		2203	4300	6503	182205046	SO:0001583	missense	23127	exon5			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.812C>T	1.37:g.183938423G>A	ENSP00000354960:p.Ala271Val		182205046	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555316	0.96514	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.22743	1.94;1.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.976	T	0.65059	-0.6260	10	0.51188	T	0.08	.	19.2702	0.94006	0.0:0.0:1.0:0.0	.	271;271	F5H3T5;Q8IYK4	.;GT252_HUMAN	V	271	ENSP00000439112:A271V;ENSP00000354960:A271V	ENSP00000354960:A271V	A	-	2	0	GLT25D2	182205046	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.438000	0.97539	2.557000	0.86248	0.591000	0.81541	GCC		0.473	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
HMCN1	83872	broad.mit.edu	37	1	186082064	186082064	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186082064G>A	ENST00000271588.4	+	72	11339	c.11110G>A	c.(11110-11112)Gaa>Aaa	p.E3704K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3704K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3704	Ig-like C2-type 35.				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.E3704K(1)|p.E3704*(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						GACTACAAGAGAATTTATTCT	0.373																																					p.E3704K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(2)	c.G11110A	1						.						98.0	95.0	96.0					1																	186082064		2203	4300	6503	184348687	SO:0001583	missense	83872	exon72			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.11110G>A	1.37:g.186082064G>A	ENSP00000271588:p.Glu3704Lys		184348687	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480875	0.63849	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65732	-0.17;-0.17	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251924	0.46758	D	0.000278	T	0.43100	0.1232	N	0.10874	0.06	0.46028	D	0.998824	P	0.41131	0.739	B	0.39706	0.307	T	0.42172	-0.9467	10	0.07482	T	0.82	.	18.4556	0.90720	0.0:0.0:1.0:0.0	.	3704	Q96RW7	HMCN1_HUMAN	K	3704	ENSP00000271588:E3704K;ENSP00000356462:E3704K	ENSP00000271588:E3704K	E	+	1	0	HMCN1	184348687	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.371000	0.52379	2.416000	0.81992	0.655000	0.94253	GAA		0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186097227	186097227	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186097227C>A	ENST00000271588.4	+	83	12937	c.12708C>A	c.(12706-12708)ttC>ttA	p.F4236L	HMCN1_ENST00000367492.2_Missense_Mutation_p.F4236L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4236	Ig-like C2-type 41.				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.F4236L(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						ATTCTGGCTTCTATACCTGTG	0.388																																					p.F4236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12708A	1						.						90.0	84.0	86.0					1																	186097227		2203	4300	6503	184363850	SO:0001583	missense	83872	exon83			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.12708C>A	1.37:g.186097227C>A	ENSP00000271588:p.Phe4236Leu		184363850	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	1.473	-0.559310	0.03967	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.18;-0.18	5.46	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.713834	0.14690	N	0.304215	T	0.35307	0.0927	N	0.03084	-0.415	0.27698	N	0.945899	B	0.12630	0.006	B	0.10450	0.005	T	0.18178	-1.0345	10	0.28530	T	0.3	.	6.822	0.23862	0.0:0.6919:0.1556:0.1525	.	4236	Q96RW7	HMCN1_HUMAN	L	4236	ENSP00000271588:F4236L;ENSP00000356462:F4236L	ENSP00000271588:F4236L	F	+	3	2	HMCN1	184363850	0.135000	0.22499	0.876000	0.34364	0.030000	0.12068	0.156000	0.16382	1.257000	0.44085	0.655000	0.94253	TTC		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186099771	186099771	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186099771A>G	ENST00000271588.4	+	85	13401	c.13172A>G	c.(13171-13173)gAa>gGa	p.E4391G	HMCN1_ENST00000367492.2_Missense_Mutation_p.E4391G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4391	Ig-like C2-type 43.				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.E4391G(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						GTGGATATTGAAATTAGCCAC	0.498																																					p.E4391G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13172G	1						.						102.0	102.0	102.0					1																	186099771		2203	4300	6503	184366394	SO:0001583	missense	83872	exon85			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.13172A>G	1.37:g.186099771A>G	ENSP00000271588:p.Glu4391Gly		184366394	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399293	0.42512	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.48	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.393600	0.31404	N	0.007717	T	0.68559	0.3014	L	0.28054	0.825	0.29532	N	0.852716	D	0.69078	0.997	D	0.81914	0.995	T	0.63466	-0.6631	10	0.23891	T	0.37	.	11.661	0.51347	0.7174:0.2826:0.0:0.0	.	4391	Q96RW7	HMCN1_HUMAN	G	4391	ENSP00000271588:E4391G;ENSP00000356462:E4391G	ENSP00000271588:E4391G	E	+	2	0	HMCN1	184366394	1.000000	0.71417	0.807000	0.32361	0.719000	0.41307	2.818000	0.48041	0.993000	0.38866	0.482000	0.46254	GAA		0.498	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186106960	186106960	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186106960C>A	ENST00000271588.4	+	89	14009	c.13780C>A	c.(13780-13782)Ctt>Att	p.L4594I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L4594I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4594	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.L4594I(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						GGAATGGAGTCTTTGGGAAGA	0.488																																					p.L4594I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13780A	1						.						178.0	174.0	176.0					1																	186106960		2203	4300	6503	184373583	SO:0001583	missense	83872	exon89			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.13780C>A	1.37:g.186106960C>A	ENSP00000271588:p.Leu4594Ile		184373583	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	6.758	0.508631	0.12883	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.53640	0.61;0.61	5.65	1.47	0.22746	.	0.932937	0.09248	N	0.828265	T	0.29652	0.0740	N	0.21508	0.67	0.09310	N	1	B	0.20164	0.042	B	0.18561	0.022	T	0.21895	-1.0232	10	0.27785	T	0.31	.	4.9026	0.13782	0.1391:0.4673:0.0:0.3936	.	4594	Q96RW7	HMCN1_HUMAN	I	4594	ENSP00000271588:L4594I;ENSP00000356462:L4594I	ENSP00000271588:L4594I	L	+	1	0	HMCN1	184373583	0.000000	0.05858	0.445000	0.26908	0.659000	0.38960	-0.174000	0.09839	0.643000	0.30638	0.555000	0.69702	CTT		0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PRG4	10216	broad.mit.edu	37	1	186277699	186277699	+	Missense_Mutation	SNP	G	G	A	rs371574559		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186277699G>A	ENST00000445192.2	+	7	2893	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	PRG4_ENST00000367484.3_Missense_Mutation_p.E479K|PRG4_ENST00000367485.4_Missense_Mutation_p.E857K|PRG4_ENST00000367486.3_Missense_Mutation_p.E907K|PRG4_ENST00000367483.4_Missense_Mutation_p.E909K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	950					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E950K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAAAACTACCGAATCCAAAAT	0.383																																					p.E857K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2569A	1						.						213.0	229.0	224.0					1																	186277699		2203	4300	6503	184544322	SO:0001583	missense	10216	exon5			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2848G>A	1.37:g.186277699G>A	ENSP00000399679:p.Glu950Lys		184544322	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	G	8.644	0.896756	0.17686	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05139	3.5;3.64;3.6;3.49;3.62	3.53	1.32	0.21799	.	1.704460	0.03895	N	0.279406	T	0.02304	0.0071	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.34181	0.44;0.216;0.138;0.216	B;B;B;B	0.19148	0.024;0.024;0.01;0.024	T	0.31779	-0.9931	10	0.06891	T	0.86	-1.5784	3.1847	0.06597	0.3739:0.0:0.4375:0.1886	.	816;857;950;909	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	K	907;479;816;909;857;950	ENSP00000356456:E907K;ENSP00000356454:E479K;ENSP00000356453:E909K;ENSP00000356455:E857K;ENSP00000399679:E950K	ENSP00000356452:E816K	E	+	1	0	PRG4	184544322	0.003000	0.15002	0.002000	0.10522	0.044000	0.14063	1.009000	0.29886	0.581000	0.29539	0.430000	0.28490	GAA		0.383	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
C1orf27	54953	broad.mit.edu	37	1	186360864	186360864	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186360864G>T	ENST00000287859.6	+	8	777	c.652G>T	c.(652-654)Ggt>Tgt	p.G218C	C1orf27_ENST00000432021.3_Missense_Mutation_p.G218C|C1orf27_ENST00000419367.3_Missense_Mutation_p.G186C|C1orf27_ENST00000367470.3_Missense_Mutation_p.G218C	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	218						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.G218C(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						AATAGAAAATGGTGTTTATTT	0.323																																					p.G186C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G556T	1						.						92.0	93.0	93.0					1																	186360864		1844	4086	5930	184627487	SO:0001583	missense	54953	exon7			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"""transactivated by recombinant transforming growth factor beta"""	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.652G>T	1.37:g.186360864G>T	ENSP00000287859:p.Gly218Cys		184627487	NM_001164246	B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	ENST00000287859.6	37	CCDS53448.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604356	0.46423	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.32	3.37	0.38596	.	0.310331	0.34067	N	0.004296	T	0.55641	0.1933	M	0.68952	2.095	0.31298	N	0.688654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.983;0.989;0.989	T	0.59568	-0.7430	10	0.62326	D	0.03	-21.9996	5.0815	0.14659	0.2477:0.0:0.6089:0.1434	.	186;218;218	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	C	218;186;218;218	ENSP00000356440:G218C;ENSP00000395084:G186C;ENSP00000402029:G218C;ENSP00000287859:G218C	ENSP00000287859:G218C	G	+	1	0	C1orf27	184627487	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	1.728000	0.38105	0.559000	0.29153	-0.355000	0.07637	GGT		0.323	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086352.2	NM_017847	
PLA2G4A	5321	broad.mit.edu	37	1	186863263	186863263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186863263G>T	ENST00000367466.3	+	5	450	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.E100*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	100	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|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.E100*(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)	TGTCATGGATGAAACTCTAGG	0.328																																					p.E100X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G298T	1						.						153.0	150.0	151.0					1																	186863263		2203	4298	6501	185129886	SO:0001587	stop_gained	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.298G>T	1.37:g.186863263G>T	ENSP00000356436:p.Glu100*		185129886	NM_024420	B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	38	6.906244	0.97924	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-24.2273	18.8654	0.92290	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000356436:E100X	E	+	1	0	PLA2G4A	185129886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.091000	0.94151	2.686000	0.91538	0.650000	0.86243	GAA		0.328	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
PLA2G4A	5321	broad.mit.edu	37	1	186901976	186901976	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:186901976G>A	ENST00000367466.3	+	8	792	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E154K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	214	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.E214K(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)	GGCATTATACGAATCAGGAAT	0.423																																					p.E214K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	1						.						217.0	214.0	215.0					1																	186901976		2203	4300	6503	185168599	SO:0001583	missense	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.640G>A	1.37:g.186901976G>A	ENSP00000356436:p.Glu214Lys		185168599	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907126	0.52333	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.06218	3.33;3.33	6.16	6.16	0.99307	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	L	0.39085	1.19	0.58432	D	0.999998	D;D	0.63046	0.986;0.992	P;P	0.52066	0.616;0.689	T	0.19128	-1.0315	10	0.18710	T	0.47	-27.724	19.4236	0.94732	0.0:0.0:1.0:0.0	.	154;214	E7EU42;P47712	.;PA24A_HUMAN	K	214;154	ENSP00000356436:E214K;ENSP00000406892:E154K	ENSP00000356436:E214K	E	+	1	0	PLA2G4A	185168599	1.000000	0.71417	0.976000	0.42696	0.699000	0.40488	7.568000	0.82369	2.937000	0.99478	0.650000	0.86243	GAA		0.423	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
RGS21	431704	broad.mit.edu	37	1	192335140	192335140	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:192335140C>A	ENST00000417209.2	+	5	519	c.345C>A	c.(343-345)atC>atA	p.I115I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	115	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.I115I(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AGAAATTAATCTATTGTCTCA	0.368																																					p.I115I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345A	1						.						93.0	91.0	92.0					1																	192335140		1829	4077	5906	190601763	SO:0001819	synonymous_variant	431704	exon5			AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.345C>A	1.37:g.192335140C>A			190601763	NM_001039152		Silent	SNP	ENST00000417209.2	37	CCDS41448.1																																																																																				0.368	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2		
RGS2	5997	broad.mit.edu	37	1	192780151	192780151	+	Missense_Mutation	SNP	C	C	A	rs149228054		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:192780151C>A	ENST00000235382.5	+	4	346	c.315C>A	c.(313-315)ttC>ttA	p.F105L		NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	105	Necessary to inhibit protein synthesis.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.F105L(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5						AGTCGGAATTCTGTGAAGAAA	0.408																																					p.F105L	Pancreas(71;51 2183 4981)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C315A	1						.	C	LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	105.0	112.0	109.0		315	1.6	1.0	1	dbSNP_134	109	0,8600		0,0,4300	no	missense	RGS2	NM_002923.3	22	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	possibly-damaging	105/212	192780151	1,13005	2203	4300	6503	191046774	SO:0001583	missense	5997	exon4			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.315C>A	1.37:g.192780151C>A	ENSP00000235382:p.Phe105Leu		191046774	NM_002923	Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042846	0.75732	2.27E-4	0.0	ENSG00000116741	ENST00000235382	T	0.02050	4.48	5.0	1.61	0.23674	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.046316	0.85682	D	0.000000	T	0.11410	0.0278	M	0.86805	2.84	0.52501	D	0.999959	D	0.71674	0.998	D	0.66351	0.943	T	0.00939	-1.1507	10	0.87932	D	0	.	10.3025	0.43661	0.0:0.7321:0.0:0.2679	.	105	P41220	RGS2_HUMAN	L	105	ENSP00000235382:F105L	ENSP00000235382:F105L	F	+	3	2	RGS2	191046774	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.743000	0.47442	0.519000	0.28406	0.563000	0.77884	TTC		0.408	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923	
TROVE2	6738	broad.mit.edu	37	1	193045078	193045078	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:193045078C>T	ENST00000367446.3	+	3	919	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.R237C|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Missense_Mutation_p.R237C|TROVE2_ENST00000432079.1_5'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.R237C|TROVE2_ENST00000367444.3_Missense_Mutation_p.R237C|TROVE2_ENST00000367445.3_Missense_Mutation_p.R237C	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	237	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.R237C(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAAAGTGAAGCGCACAAGAGA	0.348																																					p.R237C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C709T	1						.						78.0	78.0	78.0					1																	193045078		1831	4087	5918	191311701	SO:0001583	missense	6738	exon3			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.709C>T	1.37:g.193045078C>T	ENSP00000356416:p.Arg237Cys		191311701	NM_001173524	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176527	0.78564	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	6.04	6.04	0.98038	TROVE (2);	0.139692	0.64402	D	0.000004	T	0.21962	0.0529	L	0.34521	1.04	0.80722	D	1	D;B;P;D	0.58970	0.984;0.052;0.951;0.98	P;B;B;B	0.46585	0.521;0.012;0.387;0.206	T	0.00171	-1.1959	10	0.56958	D	0.05	-8.4961	20.6437	0.99549	0.0:1.0:0.0:0.0	.	237;237;237;237	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	C	237	ENSP00000383752:R237C;ENSP00000356416:R237C;ENSP00000356413:R237C;ENSP00000356415:R237C;ENSP00000356414:R237C;ENSP00000356411:R237C	ENSP00000356411:R237C	R	+	1	0	TROVE2	191311701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.331000	0.79192	2.890000	0.99128	0.650000	0.86243	CGC		0.348	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
CDC73	79577	broad.mit.edu	37	1	193104712	193104712	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:193104712G>A	ENST00000367435.3	+	5	600	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	139					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R139Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAGAAACCACGAATTGAGGTA	0.313																																					p.R139Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	1						.						49.0	49.0	49.0					1																	193104712		2203	4299	6502	191371335	SO:0001583	missense	79577	exon5			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.416G>A	1.37:g.193104712G>A	ENSP00000356405:p.Arg139Gln		191371335	NM_024529	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289609	0.80914	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.87412	-2.25	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	M	0.79805	2.47	0.80722	D	1	B	0.24721	0.11	B	0.22753	0.041	D	0.85781	0.1361	10	0.56958	D	0.05	-7.7983	20.1688	0.98156	0.0:0.0:1.0:0.0	.	139	Q6P1J9	CDC73_HUMAN	Q	139	ENSP00000356405:R139Q	ENSP00000356405:R139Q	R	+	2	0	CDC73	191371335	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.281000	0.95811	2.766000	0.95052	0.603000	0.83216	CGA		0.313	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
KCNT2	343450	broad.mit.edu	37	1	196295850	196295850	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:196295850T>C	ENST00000294725.9	-	19	3188	c.2273A>G	c.(2272-2274)aAc>aGc	p.N758S	KCNT2_ENST00000367431.4_Missense_Mutation_p.N708S|KCNT2_ENST00000367433.5_Missense_Mutation_p.N758S|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.N708S|KCNT2_ENST00000451324.2_Missense_Mutation_p.N369S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	758					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.N758S(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						TACTTACGGGTTATCCAATAG	0.294																																					p.N758S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2273G	1						.						53.0	54.0	54.0					1																	196295850		2202	4294	6496	194562473	SO:0001583	missense	343450	exon19			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.2273A>G	1.37:g.196295850T>C	ENSP00000294725:p.Asn758Ser		194562473	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192094	0.38707	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000003	T	0.67163	0.2864	L	0.52266	1.64	0.40020	D	0.975393	B;B;B;B;B	0.18741	0.007;0.013;0.03;0.03;0.007	B;B;B;B;B	0.20577	0.009;0.02;0.03;0.03;0.009	T	0.63093	-0.6714	10	0.08179	T	0.78	.	15.4964	0.75653	0.0:0.0:0.0:1.0	.	758;740;758;708;758	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	S	758;708;369;758	ENSP00000356403:N758S;ENSP00000356401:N708S;ENSP00000405474:N369S;ENSP00000294725:N758S	ENSP00000294725:N758S	N	-	2	0	KCNT2	194562473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.219000	0.72231	2.107000	0.64212	0.528000	0.53228	AAC		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
ZBTB41	360023	broad.mit.edu	37	1	197157452	197157452	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:197157452G>A	ENST00000367405.4	-	4	1584	c.1516C>T	c.(1516-1518)Cgg>Tgg	p.R506W	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	506					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.R506W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCTTTAACCGAGCAAACCGT	0.368																																					p.R506W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1516T	1						.						86.0	88.0	87.0					1																	197157452		2203	4300	6503	195424075	SO:0001583	missense	360023	exon4				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1516C>T	1.37:g.197157452G>A	ENSP00000356375:p.Arg506Trp		195424075	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836447	0.71373	.	.	ENSG00000177888	ENST00000367405	T	0.28454	1.61	5.48	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37261	U	0.002164	T	0.44498	0.1296	L	0.41710	1.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.11792	-1.0573	10	0.38643	T	0.18	.	13.3035	0.60338	0.0:0.0:0.7248:0.2752	.	506	Q5SVQ8	ZBT41_HUMAN	W	506	ENSP00000356375:R506W	ENSP00000356375:R506W	R	-	1	2	ZBTB41	195424075	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.814000	0.48010	2.734000	0.93682	0.563000	0.77884	CGG		0.368	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
PTPRC	5788	broad.mit.edu	37	1	198685892	198685892	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:198685892C>A	ENST00000367376.2	+	13	1538	c.1367C>A	c.(1366-1368)tCa>tAa	p.S456*	PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S458*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S297*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S295*|PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S408*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	456	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S456*(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						TATGTTTTATCATTACATGCC	0.308																																					p.S295X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C884A	1						.						73.0	75.0	74.0					1																	198685892		2202	4300	6502	196952515	SO:0001587	stop_gained	5788	exon10			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.1367C>A	1.37:g.198685892C>A	ENSP00000356346:p.Ser456*		196952515	NM_080921	A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	18.35	3.604449	0.66445	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	4.43	1.45	0.22620	.	0.760161	0.11248	N	0.583985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.165	0.15081	0.3651:0.5379:0.0:0.097	.	.	.	.	X	458;392;408;408;342;456;390;295	.	ENSP00000306782:S295X	S	+	2	0	PTPRC	196952515	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.203000	0.09438	0.345000	0.23873	0.650000	0.86243	TCA		0.308	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
PTPRC	5788	broad.mit.edu	37	1	198711085	198711085	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:198711085C>T	ENST00000367376.2	+	24	2656	c.2485C>T	c.(2485-2487)Ctc>Ttc	p.L829F	PTPRC_ENST00000442510.2_Missense_Mutation_p.L831F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L670F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L668F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L781F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	829	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L829F(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						TCCTCACTTGCTCCTCAAACT	0.453																																					p.L668F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2002T	1						.						60.0	58.0	59.0					1																	198711085		2203	4300	6503	196977708	SO:0001583	missense	5788	exon21			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.2485C>T	1.37:g.198711085C>T	ENSP00000356346:p.Leu829Phe		196977708	NM_080921	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.010877	0.93346	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.12569	2.67	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.43579	D	0.000547	T	0.33904	0.0879	L	0.46614	1.455	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	T	0.00112	-1.2044	10	0.35671	T	0.21	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	670;781;829	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	F	831;781;829;668	ENSP00000193532:L781F	ENSP00000306782:L668F	L	+	1	0	PTPRC	196977708	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.736000	0.84948	2.884000	0.98904	0.655000	0.94253	CTC		0.453	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
KIF14	9928	broad.mit.edu	37	1	200583505	200583505	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:200583505T>G	ENST00000367350.4	-	4	1834	c.1396A>C	c.(1396-1398)Ata>Cta	p.I466L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	466	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.I466L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTGGAATTATTCCTGGTTCT	0.323																																					p.I466L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1396C	1						.						69.0	73.0	71.0					1																	200583505		2203	4300	6503	198850128	SO:0001583	missense	9928	exon4			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1396A>C	1.37:g.200583505T>G	ENSP00000356319:p.Ile466Leu		198850128	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.727311	0.69074	.	.	ENSG00000118193	ENST00000367350	T	0.72282	-0.64	5.72	5.72	0.89469	Kinesin, motor domain (4);	0.050576	0.85682	D	0.000000	T	0.65322	0.2680	N	0.17248	0.465	0.48632	D	0.99968	P	0.40032	0.699	P	0.47786	0.557	T	0.65565	-0.6137	10	0.33940	T	0.23	.	15.9899	0.80197	0.0:0.0:0.0:1.0	.	466	Q15058	KIF14_HUMAN	L	466	ENSP00000356319:I466L	ENSP00000356319:I466L	I	-	1	0	KIF14	198850128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.281000	0.58965	2.181000	0.69327	0.528000	0.53228	ATA		0.323	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
IPO9	55705	broad.mit.edu	37	1	201839937	201839937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:201839937G>A	ENST00000361565.4	+	18	2429	c.2360G>A	c.(2359-2361)cGt>cAt	p.R787H		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	787					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.R787H(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAGATTCTTCGTGCCATCCTC	0.567																																					p.R787H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2360A	1						.						54.0	54.0	54.0					1																	201839937		2203	4300	6503	200106560	SO:0001583	missense	55705	exon18			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2360G>A	1.37:g.201839937G>A	ENSP00000354742:p.Arg787His		200106560	NM_018085	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444906	0.96187	.	.	ENSG00000198700	ENST00000361565	T	0.66460	-0.21	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77287	0.4108	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.76228	-0.3036	10	0.45353	T	0.12	-5.8686	17.091	0.86622	0.0:0.0:1.0:0.0	.	787	Q96P70	IPO9_HUMAN	H	787	ENSP00000354742:R787H	ENSP00000354742:R787H	R	+	2	0	IPO9	200106560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.363000	0.97131	2.629000	0.89072	0.591000	0.81541	CGT		0.567	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	
PPP1R12B	4660	broad.mit.edu	37	1	202399862	202399862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:202399862C>T	ENST00000608999.1	+	7	1078	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.R309*|PPP1R12B_ENST00000356764.2_Nonsense_Mutation_p.R309*|PPP1R12B_ENST00000480184.1_Nonsense_Mutation_p.R309*	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	309					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.R309*(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTCCAGCTTCGAAGTGAAAA	0.378																																					p.R309X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C925T	1						.						95.0	89.0	91.0					1																	202399862		2203	4300	6503	200666485	SO:0001587	stop_gained	4660	exon7			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.925C>T	1.37:g.202399862C>T	ENSP00000476755:p.Arg309*		200666485	NM_001167857	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Nonsense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.898840|6.898840	0.97920|0.97920	.|.	.|.	ENSG00000077157|ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764|ENST00000466968	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.138507|.	0.33127|.	N|.	0.005245|.	.|T	.|0.76241	.|0.3960	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74328	.|-0.3701	.|4	0.02654|.	T|.	1|.	.|.	19.5746|19.5746	0.95436|0.95436	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	309|104	.|.	ENSP00000337897:R309X|.	R|S	+|+	1|2	2|0	PPP1R12B|PPP1R12B	200666485|200666485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.109000|5.109000	0.64615|0.64615	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.378	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
MYBPH	4608	broad.mit.edu	37	1	203144471	203144471	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:203144471C>T	ENST00000255416.4	-	2	381	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	108	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E108E(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CTCTGCAGAGCTCCAGCACAT	0.622																																					p.E108E	NSCLC(32;174 1025 14462 23899 42933)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G324A	1						.						103.0	120.0	114.0					1																	203144471		2203	4300	6503	201411094	SO:0001819	synonymous_variant	4608	exon2			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.324G>A	1.37:g.203144471C>T			201411094	NM_004997	Q16886|Q86YC5	Silent	SNP	ENST00000255416.4	37	CCDS30975.1																																																																																				0.622	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997	
SLC41A1	254428	broad.mit.edu	37	1	205779240	205779240	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:205779240G>A	ENST00000367137.3	-	2	1344	c.330C>T	c.(328-330)ggC>ggT	p.G110G		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	110					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.G110G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGGTCCCAAAGCCTGCCAGGA	0.612																																					p.G110G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C330T	1						.						105.0	99.0	101.0					1																	205779240		2203	4300	6503	204045863	SO:0001819	synonymous_variant	254428	exon2			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.330C>T	1.37:g.205779240G>A			204045863	NM_173854	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	ENST00000367137.3	37	CCDS30988.1																																																																																				0.612	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1		
C4BPA	722	broad.mit.edu	37	1	207318054	207318054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:207318054G>T	ENST00000367070.3	+	12	1980	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	596					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.E596*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGGATAAAGAACTATAATT	0.403																																					p.E596X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1786T	1						.						32.0	33.0	33.0					1																	207318054		2203	4300	6503	205384677	SO:0001587	stop_gained	722	exon12			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1786G>T	1.37:g.207318054G>T	ENSP00000356037:p.Glu596*		205384677	NM_000715	Q5VVQ8	Nonsense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616746	0.66672	.	.	ENSG00000123838	ENST00000367070	.	.	.	3.63	-3.43	0.04810	.	3.415640	0.01700	N	0.027133	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	5.2496	0.15515	0.0:0.2886:0.1951:0.5164	.	.	.	.	X	596	.	ENSP00000356037:E596X	E	+	1	0	C4BPA	205384677	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.676000	0.01946	-0.711000	0.04995	-0.181000	0.13052	GAA		0.403	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
CR2	1380	broad.mit.edu	37	1	207648424	207648424	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:207648424A>C	ENST00000367058.3	+	13	2591	c.2402A>C	c.(2401-2403)aAa>aCa	p.K801T	CR2_ENST00000458541.2_Missense_Mutation_p.K774T|CR2_ENST00000367057.3_Missense_Mutation_p.K860T|CR2_ENST00000367059.3_Missense_Mutation_p.K801T	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	801	Sushi 13. {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.K860T(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						AAGCTCAATAAAACACATTCT	0.468																																					p.K860T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2579C	1						.						166.0	149.0	155.0					1																	207648424		2203	4300	6503	205715047	SO:0001583	missense	1380	exon14			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.2402A>C	1.37:g.207648424A>C	ENSP00000356025:p.Lys801Thr		205715047	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	8.841	0.942236	0.18281	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.7	2.44	0.29823	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.50582	0.1624	N	0.17379	0.485	0.09310	N	1	P;B;D	0.54772	0.908;0.09;0.968	P;B;P	0.53401	0.725;0.045;0.653	T	0.30995	-0.9959	9	0.24483	T	0.36	.	5.2973	0.15758	0.7769:0.0:0.2231:0.0	.	801;801;860	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	T	801;860;801;774	ENSP00000356025:K801T;ENSP00000356024:K860T;ENSP00000356026:K801T;ENSP00000404222:K774T	ENSP00000356024:K860T	K	+	2	0	CR2	205715047	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.408000	0.21065	0.918000	0.36919	0.533000	0.62120	AAA		0.468	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1	1378	broad.mit.edu	37	1	207753946	207753946	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:207753946T>C	ENST00000367049.4	+	31	5204	c.5204T>C	c.(5203-5205)gTc>gCc	p.V1735A	CR1_ENST00000367051.1_Missense_Mutation_p.V1285A|CR1_ENST00000367052.1_Missense_Mutation_p.V1285A|CR1_ENST00000400960.2_Missense_Mutation_p.V1285A|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1285A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1285	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.V1290A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGTCCTTTGTCTGTGATGAA	0.478																																					p.V1735A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5204C	1						.						206.0	192.0	197.0					1																	207753946		1885	4118	6003	205820569	SO:0001583	missense	1378	exon31			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5204T>C	1.37:g.207753946T>C	ENSP00000356016:p.Val1735Ala		205820569	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	9.055	0.993068	0.19043	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.89	2.52	0.30459	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.61198	0.2328	L	0.46885	1.475	0.09310	N	1	D;P;D	0.56521	0.976;0.747;0.972	P;P;P	0.61800	0.894;0.558;0.838	T	0.50767	-0.8789	9	0.09338	T	0.73	.	3.5037	0.07683	0.1972:0.1045:0.0:0.6982	.	1285;1285;1735	Q5SR44;P17927;E9PDY4	.;CR1_HUMAN;.	A	1285;1285;1285;1285;835;1735	ENSP00000356019:V1285A;ENSP00000356018:V1285A;ENSP00000356020:V1285A;ENSP00000383744:V1285A;ENSP00000436139:V835A;ENSP00000356016:V1735A	ENSP00000356016:V1735A	V	+	2	0	CR1	205820569	0.003000	0.15002	0.021000	0.16686	0.518000	0.34316	0.334000	0.19787	0.679000	0.31345	0.533000	0.62120	GTC		0.478	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
KCNH1	3756	broad.mit.edu	37	1	210856626	210856626	+	Missense_Mutation	SNP	G	G	T	rs572030486		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:210856626G>T	ENST00000271751.4	-	11	2994	c.2967C>A	c.(2965-2967)agC>agA	p.S989R	KCNH1_ENST00000367007.4_Missense_Mutation_p.S962R			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	989					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)			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)		AGACCTCTCAGCTGGCTCCAA	0.453																																					p.S962R												.	.	0			c.C2886A	1						.						100.0	116.0	111.0					1																	210856626		2203	4300	6503	208923249	SO:0001583	missense	3756	exon11			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.2967C>A	1.37:g.210856626G>T	ENSP00000271751:p.Ser989Arg		208923249	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169978	0.38315	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99023	-5.28;-5.34	5.07	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	L	0.36672	1.1	0.35367	D	0.788756	B;D	0.61697	0.281;0.99	B;D	0.66497	0.052;0.944	D	0.99961	1.1742	10	0.87932	D	0	.	11.607	0.51037	0.0824:0.0:0.9176:0.0	.	962;989	Q14CL3;O95259	.;KCNH1_HUMAN	R	989;962	ENSP00000271751:S989R;ENSP00000355974:S962R	ENSP00000271751:S989R	S	-	3	2	KCNH1	208923249	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.912000	0.48782	1.138000	0.42230	0.655000	0.94253	AGC		0.453	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
INTS7	25896	broad.mit.edu	37	1	212193518	212193518	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:212193518C>A	ENST00000366994.3	-	3	421	c.317G>T	c.(316-318)aGa>aTa	p.R106I	INTS7_ENST00000440600.2_Intron|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.R106I|INTS7_ENST00000366993.3_Missense_Mutation_p.R106I	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	106					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)		p.R106I(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)		AGAAAAAATTCTCTTCACAAA	0.333																																					p.R106I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317T	1						.						77.0	77.0	77.0					1																	212193518		2203	4297	6500	210260141	SO:0001583	missense	25896	exon3			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.317G>T	1.37:g.212193518C>A	ENSP00000355961:p.Arg106Ile		210260141	NM_001199812	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066573	0.93898	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992	T;T;T	0.30981	1.51;1.51;1.51	5.21	5.21	0.72293	Armadillo-like helical (1);Armadillo-type fold (1);	0.046080	0.85682	D	0.000000	T	0.59959	0.2232	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.78314	0.991;0.991;0.991	T	0.64390	-0.6419	10	0.59425	D	0.04	-23.1031	18.7919	0.91976	0.0:1.0:0.0:0.0	.	106;106;106	Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;INT7_HUMAN	I	106	ENSP00000355961:R106I;ENSP00000355960:R106I;ENSP00000355959:R106I	ENSP00000355959:R106I	R	-	2	0	INTS7	210260141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.474000	0.81024	2.431000	0.82371	0.650000	0.86243	AGA		0.333	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	
ANGEL2	90806	broad.mit.edu	37	1	213178624	213178624	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:213178624T>G	ENST00000366962.3	-	5	1039	c.885A>C	c.(883-885)aaA>aaC	p.K295N	ANGEL2_ENST00000544555.1_Missense_Mutation_p.K126N|ANGEL2_ENST00000540642.1_Missense_Mutation_p.K169N|ANGEL2_ENST00000360506.2_Missense_Mutation_p.K126N|ANGEL2_ENST00000535388.1_Missense_Mutation_p.K126N	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	295								p.K295N(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CATATGGAATTTTGGGCTGTA	0.433																																					p.K295N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A885C	1						.						93.0	89.0	91.0					1																	213178624		2203	4300	6503	211245247	SO:0001583	missense	90806	exon5			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.885A>C	1.37:g.213178624T>G	ENSP00000355929:p.Lys295Asn		211245247	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	5.407	0.260242	0.10239	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;D;D;T;D	0.95205	1.64;-3.64;-3.64;1.26;-3.64	5.61	0.662	0.17880	Endonuclease/exonuclease/phosphatase (2);	0.338093	0.37304	N	0.002144	D	0.90844	0.7124	L	0.54323	1.7	0.09310	N	0.999997	B;B	0.13594	0.002;0.008	B;B	0.20577	0.006;0.03	T	0.80865	-0.1191	10	0.38643	T	0.18	-11.6016	9.8459	0.41026	0.0:0.3498:0.0:0.6502	.	169;295	F5H476;Q5VTE6	.;ANGE2_HUMAN	N	295;126;126;169;126	ENSP00000355929:K295N;ENSP00000353696:K126N;ENSP00000443193:K126N;ENSP00000446124:K169N;ENSP00000438141:K126N	ENSP00000353696:K126N	K	-	3	2	ANGEL2	211245247	0.139000	0.22563	0.024000	0.17045	0.301000	0.27625	0.661000	0.25023	-0.134000	0.11516	-0.297000	0.09499	AAA		0.433	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
CENPF	1063	broad.mit.edu	37	1	214814805	214814805	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:214814805A>C	ENST00000366955.3	+	12	3292	c.3124A>C	c.(3124-3126)Aaa>Caa	p.K1042Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K1042Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTTAGTCAAAAATACAAAGC	0.323																																					p.K1042Q	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3124C	1						.						47.0	53.0	51.0					1																	214814805		2203	4299	6502	212881428	SO:0001583	missense	1063	exon12			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3124A>C	1.37:g.214814805A>C	ENSP00000355922:p.Lys1042Gln		212881428	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.946984	0.34377	.	.	ENSG00000117724	ENST00000366955	T	0.03951	3.75	4.86	3.7	0.42460	.	0.576602	0.14479	N	0.317056	T	0.03520	0.0101	.	.	.	0.21740	N	0.999562	P	0.43412	0.806	B	0.35413	0.202	T	0.43925	-0.9361	9	0.35671	T	0.21	.	6.9839	0.24718	0.7731:0.1476:0.0793:0.0	.	1042	P49454	CENPF_HUMAN	Q	1042	ENSP00000355922:K1042Q	ENSP00000355922:K1042Q	K	+	1	0	CENPF	212881428	0.986000	0.35501	0.242000	0.24170	0.749000	0.42624	2.670000	0.46833	0.767000	0.33267	0.496000	0.49642	AAA		0.323	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214826270	214826270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:214826270G>T	ENST00000366955.3	+	16	8428	c.8260G>T	c.(8260-8262)Gaa>Taa	p.E2754*	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2850	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E2754*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTCTAGTAAAGAAGAGCTCAA	0.343																																					p.E2754X	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8260T	1						.						92.0	96.0	95.0					1																	214826270		2203	4299	6502	212892893	SO:0001587	stop_gained	1063	exon16			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8260G>T	1.37:g.214826270G>T	ENSP00000355922:p.Glu2754*		212892893	NM_016343	Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	50	16.707560	0.99870	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	14.955	0.71107	0.0:0.0:1.0:0.0	.	.	.	.	X	2754;153	.	ENSP00000355922:E2754X	E	+	1	0	CENPF	212892893	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	3.084000	0.50143	1.748000	0.51833	0.511000	0.50034	GAA		0.343	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214830366	214830366	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:214830366A>G	ENST00000366955.3	+	18	8744	c.8576A>G	c.(8575-8577)gAa>gGa	p.E2859G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2955	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E2859G(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAGGCAGATGAATACTTGGAT	0.388																																					p.E2859G	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8576G	1						.						110.0	107.0	108.0					1																	214830366		2203	4300	6503	212896989	SO:0001583	missense	1063	exon18			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8576A>G	1.37:g.214830366A>G	ENSP00000355922:p.Glu2859Gly		212896989	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924871	0.52759	.	.	ENSG00000117724	ENST00000366955	T	0.06371	3.31	5.37	4.24	0.50183	.	0.239140	0.21520	N	0.073238	T	0.08537	0.0212	M	0.66939	2.045	0.25743	N	0.985138	B	0.25521	0.128	B	0.23275	0.045	T	0.20405	-1.0276	10	0.54805	T	0.06	.	7.1443	0.25575	0.798:0.0:0.0714:0.1307	.	2955	P49454	CENPF_HUMAN	G	2859	ENSP00000355922:E2859G	ENSP00000355922:E2859G	E	+	2	0	CENPF	212896989	1.000000	0.71417	0.065000	0.19835	0.527000	0.34593	5.519000	0.67074	0.983000	0.38602	0.533000	0.62120	GAA		0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214830463	214830463	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:214830463G>A	ENST00000366955.3	+	18	8841	c.8673G>A	c.(8671-8673)caG>caA	p.Q2891Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2987	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.Q2891Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGTTCACAGCAATCTAAAC	0.428																																					p.Q2891Q	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8673A	1						.						198.0	187.0	191.0					1																	214830463		2203	4300	6503	212897086	SO:0001819	synonymous_variant	1063	exon18			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8673G>A	1.37:g.214830463G>A			212897086	NM_016343	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
KCTD3	51133	broad.mit.edu	37	1	215751367	215751367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:215751367G>T	ENST00000259154.4	+	6	634	c.340G>T	c.(340-342)Gaa>Taa	p.E114*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	114					protein homooligomerization (GO:0051260)			p.E114*(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTTATGTGAAGAATTGGAGCG	0.343																																					p.E114X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G340T	1						.						183.0	181.0	182.0					1																	215751367		2203	4300	6503	213817990	SO:0001587	stop_gained	51133	exon6			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.340G>T	1.37:g.215751367G>T	ENSP00000259154:p.Glu114*		213817990	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.492127|5.492127	0.96339|0.96339	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80025	.|0.4548	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77710	.|-0.2486	.|3	0.51188|.	T|.	0.08|.	-34.8986|-34.8986	20.0591|20.0591	0.97667|0.97667	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	114|86	.|.	ENSP00000259154:E114X|.	E|R	+|+	1|2	0|0	KCTD3|KCTD3	213817990|213817990	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.995000|0.995000	0.86356|0.86356	9.404000|9.404000	0.97306|0.97306	2.739000|2.739000	0.93911|0.93911	0.491000|0.491000	0.48974|0.48974	GAA|AGA		0.343	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu	37	1	215802328	215802328	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:215802328C>T	ENST00000307340.3	-	71	15733	c.15347G>A	c.(15346-15348)cGc>cAc	p.R5116H	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R5140H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5116					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.R5116H(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)		CCGGTTGCTGCGGATACTCAC	0.522										HNSCC(13;0.011)																											p.R5116H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15347A	1						.						122.0	123.0	123.0					1																	215802328		2203	4300	6503	213868951	SO:0001583	missense	7399	exon71			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.15347G>A	1.37:g.215802328C>T	ENSP00000305941:p.Arg5116His		213868951	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419734	0.25552	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.15372	2.43;2.53	5.67	4.76	0.60689	.	0.185589	0.25680	U	0.029004	T	0.16938	0.0407	M	0.65975	2.015	0.30239	N	0.795189	B	0.26445	0.149	B	0.15052	0.012	T	0.11567	-1.0582	10	0.19147	T	0.46	.	9.8145	0.40844	0.0:0.7872:0.0:0.2128	.	5116	O75445	USH2A_HUMAN	H	5116;5140	ENSP00000305941:R5116H;ENSP00000355910:R5140H	ENSP00000305941:R5116H	R	-	2	0	USH2A	213868951	0.122000	0.22280	0.903000	0.35520	0.085000	0.17905	0.532000	0.23067	1.399000	0.46721	-0.218000	0.12543	CGC		0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216219799	216219799	+	Missense_Mutation	SNP	C	C	T	rs111033268		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:216219799C>T	ENST00000307340.3	-	32	6685	c.6299G>A	c.(6298-6300)gGc>gAc	p.G2100D	USH2A_ENST00000366943.2_Missense_Mutation_p.G2100D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2100	Fibronectin type-III 7. {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.G2100D(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)		CTCCTCACTGCCTGAATAGAT	0.403										HNSCC(13;0.011)																											p.G2100D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6299A	1						.						112.0	94.0	100.0					1																	216219799		2203	4300	6503	214286422	SO:0001583	missense	7399	exon32			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.6299G>A	1.37:g.216219799C>T	ENSP00000305941:p.Gly2100Asp		214286422	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071836	0.76301	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57907	0.37;0.37	5.42	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000368	T	0.68915	0.3053	M	0.71581	2.175	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.67518	-0.5650	10	0.29301	T	0.29	.	13.2939	0.60286	0.0:0.9236:0.0:0.0764	.	2100	O75445	USH2A_HUMAN	D	2100	ENSP00000305941:G2100D;ENSP00000355910:G2100D	ENSP00000305941:G2100D	G	-	2	0	USH2A	214286422	0.979000	0.34478	0.802000	0.32245	0.089000	0.18198	2.824000	0.48088	1.420000	0.47138	0.650000	0.86243	GGC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216420166	216420166	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:216420166C>A	ENST00000307340.3	-	13	2956	c.2570G>T	c.(2569-2571)gGc>gTc	p.G857V	USH2A_ENST00000366942.3_Missense_Mutation_p.G857V|USH2A_ENST00000366943.2_Missense_Mutation_p.G857V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	857	Laminin EGF-like 7. {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.G857V(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)		CAGCAGAGAGCCATTTATTGT	0.428										HNSCC(13;0.011)																											p.G857V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2570T	1						.						223.0	205.0	211.0					1																	216420166		2203	4300	6503	214486789	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.2570G>T	1.37:g.216420166C>A	ENSP00000305941:p.Gly857Val		214486789	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430170	0.62844	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.54866	0.55;0.55;0.55	6.03	2.97	0.34412	EGF-like, laminin (3);	0.163834	0.28549	N	0.014955	T	0.63426	0.2510	M	0.67397	2.05	0.80722	D	1	P;D	0.62365	0.551;0.991	P;P	0.62740	0.617;0.906	T	0.64106	-0.6485	10	0.51188	T	0.08	.	8.5741	0.33587	0.0:0.6321:0.2423:0.1256	.	857;857	O75445-2;O75445	.;USH2A_HUMAN	V	857	ENSP00000305941:G857V;ENSP00000355910:G857V;ENSP00000355909:G857V	ENSP00000305941:G857V	G	-	2	0	USH2A	214486789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.755000	0.38379	1.518000	0.48934	0.655000	0.94253	GGC		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ESRRG	2104	broad.mit.edu	37	1	216692548	216692548	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:216692548T>C	ENST00000408911.3	-	6	1231	c.1078A>G	c.(1078-1080)Aag>Gag	p.K360E	ESRRG_ENST00000360012.3_Missense_Mutation_p.K337E|ESRRG_ENST00000391890.3_Missense_Mutation_p.K344E|ESRRG_ENST00000361525.3_Missense_Mutation_p.K337E|ESRRG_ENST00000366937.1_Missense_Mutation_p.K372E|ESRRG_ENST00000359162.2_Missense_Mutation_p.K337E|ESRRG_ENST00000493603.1_Missense_Mutation_p.K337E|ESRRG_ENST00000366938.2_Missense_Mutation_p.K337E|ESRRG_ENST00000366940.2_Missense_Mutation_p.K337E|ESRRG_ENST00000487276.1_Missense_Mutation_p.K337E|ESRRG_ENST00000493748.1_Missense_Mutation_p.K337E|ESRRG_ENST00000361395.2_Missense_Mutation_p.K337E|ESRRG_ENST00000463665.1_Missense_Mutation_p.K298E	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	360					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.K360E(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTTTCCAGCTTCATGCTCTTG	0.368																																					p.K337E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1009G	1						.						123.0	116.0	118.0					1																	216692548		2203	4300	6503	214759171	SO:0001583	missense	2104	exon7			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1078A>G	1.37:g.216692548T>C	ENSP00000386171:p.Lys360Glu		214759171	NM_206595	A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251757	0.59212	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;T;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;0.72;-4.05;-4.05;-4.05	6.06	6.06	0.98353	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	L	0.56340	1.77	0.80722	D	1	B;P;P	0.37441	0.215;0.541;0.595	B;B;B	0.38225	0.199;0.175;0.268	D	0.95121	0.8246	10	0.72032	D	0.01	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	298;372;360	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	E	337;337;372;360;337;337;337;337;337;344;298;337;337;337;337	ENSP00000355225:K337E;ENSP00000355907:K337E;ENSP00000355904:K372E;ENSP00000386171:K360E;ENSP00000352077:K337E;ENSP00000354584:K337E;ENSP00000355905:K337E;ENSP00000353108:K337E;ENSP00000419594:K337E;ENSP00000375761:K344E;ENSP00000418629:K298E;ENSP00000419155:K337E;ENSP00000417374:K337E;ENSP00000419514:K337E	ENSP00000346386:K337E	K	-	1	0	ESRRG	214759171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.013000	0.88655	2.324000	0.78689	0.533000	0.62120	AAG		0.368	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595	
MIA3	375056	broad.mit.edu	37	1	222835663	222835663	+	Missense_Mutation	SNP	G	G	A	rs202243744		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:222835663G>A	ENST00000344922.5	+	26	5276	c.5251G>A	c.(5251-5253)Gat>Aat	p.D1751N	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.D629N|MIA3_ENST00000344441.6_Missense_Mutation_p.D1751N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1751	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.D1751N(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)		CAGGGTACTCGATGAAGGCAA	0.428																																					p.D1751N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5251A	1						.						157.0	152.0	153.0					1																	222835663		1895	4109	6004	220902286	SO:0001583	missense	375056	exon26				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.5251G>A	1.37:g.222835663G>A	ENSP00000340900:p.Asp1751Asn		220902286	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	21.5|21.5	4.165651|4.165651	0.78339|0.78339	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000450260	T;T;T|.	0.38722|.	1.12;1.12;2.93|.	5.77|5.77	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.57198|0.57198	0.2037|0.2037	M|M	0.68952|0.68952	2.095|2.095	0.27391|0.27391	N|N	0.955129|0.955129	D;D|.	0.76494|.	0.999;0.998|.	P;P|.	0.62089|.	0.898;0.84|.	T|T	0.52888|0.52888	-0.8515|-0.8515	9|5	0.37606|.	T|.	0.19|.	.|.	13.0772|13.0772	0.59093|0.59093	0.0752:0.0:0.9248:0.0|0.0752:0.0:0.9248:0.0	.|.	629;1751|.	Q5JRA6-4;Q5JRA6|.	.;MIA3_HUMAN|.	N|Q	1751;1751;1692;629;629|35	ENSP00000340900:D1751N;ENSP00000340587:D1751N;ENSP00000345866:D629N|.	ENSP00000284471:D629N|.	D|R	+|+	1|2	0|0	MIA3|MIA3	220902286|220902286	1.000000|1.000000	0.71417|0.71417	0.030000|0.030000	0.17652|0.17652	0.042000|0.042000	0.13812|0.13812	4.284000|4.284000	0.58983|0.58983	1.586000|1.586000	0.49944|0.49944	0.650000|0.650000	0.86243|0.86243	GAT|CGA		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
CAPN2	824	broad.mit.edu	37	1	223931893	223931893	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:223931893A>C	ENST00000295006.5	+	3	708	c.399A>C	c.(397-399)gaA>gaC	p.E133D	CAPN2_ENST00000433674.2_Missense_Mutation_p.E55D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	133	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.E133D(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)		GCTTCCAGGAAAACTATGCAG	0.537																																					p.E133D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A399C	1						.						101.0	107.0	105.0					1																	223931893		2203	4300	6503	221998516	SO:0001583	missense	824	exon3			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.399A>C	1.37:g.223931893A>C	ENSP00000295006:p.Glu133Asp		221998516	NM_001748	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	A	9.957	1.221875	0.22457	.	.	ENSG00000162909	ENST00000433674;ENST00000434648;ENST00000295006;ENST00000366869	D;D;D	0.88975	-2.45;-2.45;-2.45	5.15	-10.3	0.00346	Peptidase C2, calpain, catalytic domain (3);	0.324044	0.35525	N	0.003157	T	0.66867	0.2833	N	0.12961	0.28	0.28770	N	0.900406	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.55829	-0.8079	10	0.25751	T	0.34	.	3.0752	0.06243	0.4964:0.1948:0.1696:0.1392	.	55;133	B7ZA96;P17655	.;CAN2_HUMAN	D	55;55;133;162	ENSP00000413158:E55D;ENSP00000399949:E55D;ENSP00000295006:E133D	ENSP00000295006:E133D	E	+	3	2	CAPN2	221998516	0.000000	0.05858	0.565000	0.28409	0.930000	0.56654	-3.484000	0.00455	-2.152000	0.00794	-0.605000	0.04089	GAA		0.537	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748	
DEGS1	8560	broad.mit.edu	37	1	224377714	224377714	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:224377714G>A	ENST00000323699.4	+	2	684	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	DEGS1_ENST00000391877.3_Missense_Mutation_p.R173Q|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	173					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R173Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TATGCCTTTCGACCTCTGTTC	0.388																																					p.R173Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	1						.						199.0	200.0	200.0					1																	224377714		2203	4300	6503	222444337	SO:0001583	missense	8560	exon2			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.518G>A	1.37:g.224377714G>A	ENSP00000316476:p.Arg173Gln		222444337	NM_003676		Missense_Mutation	SNP	ENST00000323699.4	37	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549275	0.96488	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.18174	2.23;2.23;2.23	5.91	5.91	0.95273	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.73269	-0.4036	10	0.72032	D	0.01	.	20.303	0.98618	0.0:0.0:1.0:0.0	.	173;152	O15121;E7EMA0	DEGS1_HUMAN;.	Q	152;173;173	ENSP00000400545:R152Q;ENSP00000316476:R173Q;ENSP00000375749:R173Q	ENSP00000316476:R173Q	R	+	2	0	DEGS1	222444337	1.000000	0.71417	0.842000	0.33263	0.934000	0.57294	9.869000	0.99810	2.806000	0.96561	0.549000	0.68633	CGA		0.388	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2		
PRSS38	339501	broad.mit.edu	37	1	228033805	228033805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:228033805G>T	ENST00000366757.3	+	5	901	c.877G>T	c.(877-879)Gaa>Taa	p.E293*		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	293	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E293*(1)|p.E293K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGATAACATAGAAATCACGCC	0.552																																					p.E293X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G877T	1						.						83.0	80.0	81.0					1																	228033805		2203	4300	6503	226100428	SO:0001587	stop_gained	339501	exon5				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.877G>T	1.37:g.228033805G>T	ENSP00000355719:p.Glu293*		226100428	NM_183062	Q7RTY6	Nonsense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990652	0.18966	.	.	ENSG00000185888	ENST00000366757	.	.	.	4.21	-8.41	0.00961	.	1.225170	0.06384	N	0.715805	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	2.4559	0.04529	0.4743:0.2235:0.189:0.1132	.	.	.	.	X	293	.	ENSP00000355719:E293X	E	+	1	0	PRSS38	226100428	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.163000	0.03138	-1.741000	0.01344	-0.471000	0.05019	GAA		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
WNT3A	89780	broad.mit.edu	37	1	228238550	228238550	+	Silent	SNP	C	C	T	rs141170201		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:228238550C>T	ENST00000284523.1	+	3	585	c.507C>T	c.(505-507)ttC>ttT	p.F169F	WNT3A_ENST00000366753.2_Silent_p.F169F	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	169					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)	p.F169F(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTCGGGAGTTCGCCGACGCCC	0.672																																					p.F169F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	1						.	C		2,4404	6.2+/-15.9	0,2,2201	83.0	79.0	80.0		507	-1.7	0.7	1	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous	WNT3A	NM_033131.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		169/353	228238550	2,13004	2203	4300	6503	226305173	SO:0001819	synonymous_variant	89780	exon3			AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.507C>T	1.37:g.228238550C>T			226305173	NM_033131	Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	CCDS1564.1																																																																																				0.672	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131	
OBSCN	84033	broad.mit.edu	37	1	228437822	228437822	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:228437822G>A	ENST00000422127.1	+	14	4234	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1397Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R1489Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746). {ECO:0000305}.|RM -> HV (in Ref. 1; CAC85749). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R1397Q(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGAAAGTTCGAATGGAGGCT	0.672																																					p.R1397Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4190A	1						.						72.0	80.0	77.0					1																	228437822		2092	4200	6292	226504445	SO:0001583	missense	84033	exon14			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4190G>A	1.37:g.228437822G>A	ENSP00000409493:p.Arg1397Gln		226504445	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	.	.	.	.	.	.	.	.	.	.	.	7.490	0.650547	0.14516	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66995	-0.24;-0.24	5.2	-3.32	0.04973	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.423322	0.22467	N	0.059665	T	0.46171	0.1379	L	0.31371	0.925	0.19300	N	0.999975	P;D	0.60160	0.594;0.987	B;P	0.48063	0.195;0.565	T	0.57723	-0.7762	10	0.02654	T	1	.	7.3491	0.26680	0.6013:0.0:0.2851:0.1136	.	1397;1397	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1397	ENSP00000284548:R1397Q;ENSP00000409493:R1397Q	ENSP00000284548:R1397Q	R	+	2	0	OBSCN	226504445	0.000000	0.05858	0.021000	0.16686	0.002000	0.02628	-0.104000	0.10923	-0.496000	0.06650	-0.140000	0.14226	CGA		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	broad.mit.edu	37	1	228482673	228482673	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:228482673C>T	ENST00000422127.1	+	43	11632	c.11588C>T	c.(11587-11589)tCt>tTt	p.S3863F	OBSCN_ENST00000366709.4_Missense_Mutation_p.S982F|OBSCN_ENST00000359599.6_Missense_Mutation_p.S2710F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S4292F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S982F|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Missense_Mutation_p.S3863F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3863	Ig-like 39.				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.S4146F(1)|p.S3917F(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)				CATGGCCTGTCTGTGGCAGAC	0.607																																					p.S3863F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11588T	1						.						134.0	138.0	136.0					1																	228482673		2136	4230	6366	226549296	SO:0001583	missense	84033	exon43			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.11588C>T	1.37:g.228482673C>T	ENSP00000409493:p.Ser3863Phe		226549296	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	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223818	0.39300	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.01	-4.01	0.04045	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.533070	0.03576	N	0.229437	T	0.65291	0.2677	N	0.24115	0.695	0.09310	N	1	D;D	0.64830	0.994;0.993	P;P	0.61658	0.892;0.782	T	0.59852	-0.7376	10	0.56958	D	0.05	.	6.9802	0.24698	0.509:0.2855:0.0:0.2054	.	3863;3863	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	3863;3863;982;982;2710	ENSP00000284548:S3863F;ENSP00000409493:S3863F;ENSP00000355668:S982F;ENSP00000355670:S982F;ENSP00000352613:S2710F	ENSP00000284548:S3863F	S	+	2	0	OBSCN	226549296	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.041000	0.03542	-0.490000	0.06707	0.563000	0.77884	TCT		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
NUP133	55746	broad.mit.edu	37	1	229641805	229641805	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:229641805C>T	ENST00000261396.3	-	2	374	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	NUP133_ENST00000537506.1_Missense_Mutation_p.A79T|NUP133_ENST00000366678.3_Missense_Mutation_p.A95T|RP4-613A2.1_ENST00000417605.1_RNA	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	95					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.A95T(1)		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)				AATGTTAGGGCTTCCATGACT	0.398																																					p.A95T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283A	1						.						157.0	146.0	150.0					1																	229641805		2203	4300	6503	227708428	SO:0001583	missense	55746	exon2				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.283G>A	1.37:g.229641805C>T	ENSP00000261396:p.Ala95Thr		227708428	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466495	0.84425	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.77616	2.38	0.80722	D	1	D	0.56968	0.978	P	0.52159	0.691	T	0.49960	-0.8883	10	0.40728	T	0.16	-6.3985	16.8472	0.85984	0.0:1.0:0.0:0.0	.	95	Q8WUM0	NU133_HUMAN	T	95;95;95;79;95	ENSP00000261396:A95T;ENSP00000355640:A95T;ENSP00000443496:A79T;ENSP00000355639:A95T	ENSP00000261396:A95T	A	-	1	0	NUP133	227708428	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.664000	0.74437	2.391000	0.81399	0.555000	0.69702	GCC		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
MAP10	54627	broad.mit.edu	37	1	232940913	232940913	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:232940913A>C	ENST00000418460.1	+	1	271	c.144A>C	c.(142-144)caA>caC	p.Q48H		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.Q48H(2)									CCATTACCCAAAAAACTCACT	0.378																																					p.Q48H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A144C	1						.						202.0	202.0	202.0					1																	232940913		1872	4099	5971	231007536	SO:0001583	missense	54627	exon1			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.144A>C	1.37:g.232940913A>C	ENSP00000403208:p.Gln48His		231007536	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396159	0.42512	.	.	ENSG00000212916	ENST00000418460	.	.	.	3.3	-0.445	0.12242	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36720	-0.9736	5	0.87932	D	0	.	0.4358	0.00478	0.3444:0.2965:0.1736:0.1855	.	.	.	.	H	48	.	ENSP00000403208:Q48H	Q	+	3	2	KIAA1383	231007536	0.013000	0.17824	0.000000	0.03702	0.357000	0.29423	2.218000	0.42889	-0.084000	0.12595	0.260000	0.18958	CAA		0.378	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090	
KDM1A	23028	broad.mit.edu	37	1	23357125	23357125	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:23357125C>T	ENST00000356634.3	+	2	664	c.515C>T	c.(514-516)tCg>tTg	p.S172L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.S172L|KDM1A_ENST00000542151.1_Missense_Mutation_p.S172L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	172					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.S172L(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAGAACCATCGGGTGAGTTG	0.398																																					p.S172L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C515T	1						.						106.0	114.0	111.0					1																	23357125		2203	4300	6503	23229712	SO:0001583	missense	23028	exon2			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.515C>T	1.37:g.23357125C>T	ENSP00000349049:p.Ser172Leu		23229712	NM_001009999	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560729	0.65538	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.34275	1.37;1.37;1.37	5.62	5.62	0.85841	Homeodomain-like (1);	0.083257	0.49916	D	0.000129	T	0.44180	0.1281	N	0.19112	0.55	0.58432	D	0.999998	D;P	0.69078	0.997;0.65	D;B	0.69479	0.964;0.021	T	0.42899	-0.9424	10	0.66056	D	0.02	-16.8776	14.2687	0.66138	0.0:0.8513:0.1487:0.0	.	172;172	O60341-2;O60341	.;KDM1A_HUMAN	L	172	ENSP00000349049:S172L;ENSP00000383042:S172L;ENSP00000439072:S172L	ENSP00000349049:S172L	S	+	2	0	KDM1A	23229712	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.988000	0.70579	2.648000	0.89879	0.484000	0.47621	TCG		0.398	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
PCNXL2	80003	broad.mit.edu	37	1	233393897	233393897	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:233393897G>A	ENST00000258229.9	-	5	1945	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	571						integral component of membrane (GO:0016021)		p.P571S(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)				GACTCATTTGGCATTTGTCCT	0.413																																					p.P571S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1711T	1						.						127.0	122.0	124.0					1																	233393897		1913	4131	6044	231460520	SO:0001583	missense	80003	exon5			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.1711C>T	1.37:g.233393897G>A	ENSP00000258229:p.Pro571Ser		231460520	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441818	0.83993	.	.	ENSG00000135749	ENST00000258229	T	0.08896	3.04	5.7	5.7	0.88788	.	.	.	.	.	T	0.17450	0.0419	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.13980	-1.0489	9	0.16420	T	0.52	.	19.8253	0.96616	0.0:0.0:1.0:0.0	.	571	A6NKB5	PCX2_HUMAN	S	571	ENSP00000258229:P571S	ENSP00000258229:P571S	P	-	1	0	PCNXL2	231460520	1.000000	0.71417	0.957000	0.39632	0.708000	0.40852	5.901000	0.69861	2.682000	0.91365	0.655000	0.94253	CCA		0.413	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
LYST	1130	broad.mit.edu	37	1	235955020	235955020	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:235955020C>A	ENST00000389794.3	-	12	4696	c.4522G>T	c.(4522-4524)Gat>Tat	p.D1508Y	LYST_ENST00000536965.1_Intron|LYST_ENST00000389793.2_Missense_Mutation_p.D1508Y			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1508					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.D1508Y(2)		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)			AAACTGCTATCTGGTAAAATT	0.338																																					p.D1508Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4522T	1						.						155.0	153.0	154.0					1																	235955020		2203	4300	6503	234021643	SO:0001583	missense	1130	exon12			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.4522G>T	1.37:g.235955020C>A	ENSP00000374444:p.Asp1508Tyr		234021643	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391208	0.25118	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.65178	-0.14;-0.14	5.76	3.91	0.45181	.	1.053090	0.07222	N	0.861116	T	0.73837	0.3638	L	0.59436	1.845	0.45676	D	0.998599	P;D	0.62365	0.946;0.991	P;P	0.58077	0.77;0.832	T	0.64106	-0.6485	10	0.87932	D	0	.	12.4236	0.55534	0.0:0.8648:0.0:0.1352	.	1508;1508	Q99698-3;Q99698	.;LYST_HUMAN	Y	1508	ENSP00000374444:D1508Y;ENSP00000374443:D1508Y	ENSP00000374443:D1508Y	D	-	1	0	LYST	234021643	0.200000	0.23398	0.008000	0.14137	0.007000	0.05969	3.347000	0.52200	0.909000	0.36697	-0.142000	0.14014	GAT		0.338	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
HEATR1	55127	broad.mit.edu	37	1	236755321	236755321	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:236755321G>T	ENST00000366582.3	-	11	1508	c.1394C>A	c.(1393-1395)tCt>tAt	p.S465Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S465Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	465					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.S465Y(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)			TGTAGAAAGAGAAACAAACTG	0.383																																					p.S465Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1394A	1						.						118.0	119.0	119.0					1																	236755321		2203	4300	6503	234821944	SO:0001583	missense	55127	exon11			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.1394C>A	1.37:g.236755321G>T	ENSP00000355541:p.Ser465Tyr		234821944	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978774	0.53720	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66815	-0.23;3.24	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83467	0.0057	10	0.72032	D	0.01	.	19.2485	0.93913	0.0:0.0:1.0:0.0	.	465	Q9H583	HEAT1_HUMAN	Y	465	ENSP00000355541:S465Y;ENSP00000355540:S465Y	ENSP00000355540:S465Y	S	-	2	0	HEATR1	234821944	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.629000	0.83207	2.612000	0.88384	0.650000	0.86243	TCT		0.383	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
RYR2	6262	broad.mit.edu	37	1	237863701	237863701	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:237863701C>T	ENST00000366574.2	+	65	9618	c.9301C>T	c.(9301-9303)Ctg>Ttg	p.L3101L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.L3099L|RYR2_ENST00000542537.1_Silent_p.L3085L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3101					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.L3099L(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)			CACAGTGGCCCTGCTGCCAAT	0.423																																					p.L3101L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9301T	1						.						38.0	38.0	38.0					1																	237863701		1895	4120	6015	235930324	SO:0001819	synonymous_variant	6262	exon65			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.9301C>T	1.37:g.237863701C>T			235930324	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				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	237993910	237993910	+	Missense_Mutation	SNP	G	G	T	rs540660645		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:237993910G>T	ENST00000366574.2	+	103	15053	c.14736G>T	c.(14734-14736)gaG>gaT	p.E4912D	RYR2_ENST00000360064.6_Missense_Mutation_p.E4918D|RYR2_ENST00000542537.1_Missense_Mutation_p.E4896D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4912					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)			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)			CTTTACAGGAGCACAACTTGG	0.463																																					p.E4912D												.	.	0			c.G14736T	1						.						177.0	167.0	170.0					1																	237993910		1971	4164	6135	236060533	SO:0001583	missense	6262	exon103			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.14736G>T	1.37:g.237993910G>T	ENSP00000355533:p.Glu4912Asp		236060533	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211392	0.79240	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97404	-4.37;-4.34;-4.37	5.39	-1.21	0.09524	.	0.000000	0.64402	D	0.000007	D	0.97629	0.9223	M	0.78456	2.415	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.96547	0.9405	10	0.87932	D	0	-17.0398	11.4928	0.50391	0.2882:0.0:0.7118:0.0	.	4912	Q92736	RYR2_HUMAN	D	4912;4918;4896	ENSP00000355533:E4912D;ENSP00000353174:E4918D;ENSP00000443798:E4896D	ENSP00000353174:E4918D	E	+	3	2	RYR2	236060533	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	0.704000	0.25661	-0.166000	0.10890	0.561000	0.74099	GAG		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
FMN2	56776	broad.mit.edu	37	1	240286540	240286540	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:240286540G>A	ENST00000319653.9	+	2	1907	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	559					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.E702E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAAGCAGAGAAGTTTTGCT	0.522																																					p.E559E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1677A	1						.						136.0	121.0	126.0					1																	240286540		2203	4300	6503	238353163	SO:0001819	synonymous_variant	56776	exon2			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1677G>A	1.37:g.240286540G>A			238353163	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																				0.522	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
KMO	8564	broad.mit.edu	37	1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:241713007G>T	ENST00000366559.4	+	3	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_ENST00000366557.4_Missense_Mutation_p.R52I|KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000484628.1_3'UTR	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.R52I(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)			ACACGTGGAAGAAGCATTAAC	0.423																																					p.R52I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G155T	1						.						175.0	154.0	161.0					1																	241713007		2203	4300	6503	239779630	SO:0001583	missense	8564	exon3			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.155G>T	1.37:g.241713007G>T	ENSP00000355517:p.Arg52Ile		239779630	NM_003679		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764121	0.89932	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.51817	0.69;0.69;0.69	5.37	5.37	0.77165	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.93594	3.435	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74348	0.983;0.972;0.97	T	0.82139	-0.0605	10	0.87932	D	0	.	14.9668	0.71201	0.0:0.0:1.0:0.0	.	52;52;52	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	I	52	ENSP00000355517:R52I;ENSP00000355516:R52I;ENSP00000355515:R52I	ENSP00000355515:R52I	R	+	2	0	KMO	239779630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.994000	0.76251	2.677000	0.91161	0.655000	0.94253	AGA		0.423	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
WDR64	128025	broad.mit.edu	37	1	241850792	241850792	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:241850792T>C	ENST00000366552.2	+	7	1046	c.839T>C	c.(838-840)gTt>gCt	p.V280A	WDR64_ENST00000437684.2_Missense_Mutation_p.V280A	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	280								p.V280A(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)			AATGACTGGGTTATGAAAATT	0.353																																					p.V280A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T839C	1						.						93.0	97.0	96.0					1																	241850792		2203	4299	6502	239917415	SO:0001583	missense	128025	exon7			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.839T>C	1.37:g.241850792T>C	ENSP00000355510:p.Val280Ala		239917415	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37		.	.	.	.	.	.	.	.	.	.	T	17.42	3.384240	0.61845	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.63913	1.0;-0.07;4.58	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000030	T	0.69967	0.3170	L	0.57536	1.79	0.34554	D	0.71166	.	.	.	.	.	.	T	0.80607	-0.1307	8	0.72032	D	0.01	-29.8402	13.9042	0.63823	0.0:0.0:0.0:1.0	.	.	.	.	A	280;280;51	ENSP00000355510:V280A;ENSP00000402446:V280A;ENSP00000406656:V51A	ENSP00000355510:V280A	V	+	2	0	WDR64	239917415	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.032000	0.64140	2.097000	0.63578	0.533000	0.62120	GTT		0.353	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
CEP170	9859	broad.mit.edu	37	1	243327644	243327644	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:243327644G>T	ENST00000366542.1	-	13	3669	c.3618C>A	c.(3616-3618)atC>atA	p.I1206I	CEP170_ENST00000366543.1_Silent_p.I1108I|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Silent_p.I1108I|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1206	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGAGTCGAGAGATACTGTTAG	0.428																																					p.I1108I												.	.	0			c.C3324A	1						.						68.0	62.0	64.0					1																	243327644		1856	4105	5961	241394267	SO:0001819	synonymous_variant	9859	exon12			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3618C>A	1.37:g.243327644G>T			241394267	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	3.456	-0.110980	0.06924	.	.	ENSG00000143702	ENST00000336415	.	.	.	4.69	-0.0601	0.13790	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42447	-0.9451	4	.	.	.	-7.69	7.0394	0.25010	0.637:0.0:0.363:0.0	.	.	.	.	Y	1170	.	.	S	-	2	0	CEP170	241394267	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.118000	0.31246	0.135000	0.18707	-0.263000	0.10527	TCT		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
C1orf101	257044	broad.mit.edu	37	1	244735752	244735752	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:244735752T>G	ENST00000366534.4	+	11	1682	c.1628T>G	c.(1627-1629)tTc>tGc	p.F543C	C1orf101_ENST00000366531.3_Missense_Mutation_p.F392C|C1orf101_ENST00000366533.4_Missense_Mutation_p.F543C|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	543						CatSper complex (GO:0036128)		p.F543C(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)			GCATTCATTTTCTTAAGTACA	0.323																																					p.F543C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1628G	1						.						103.0	96.0	99.0					1																	244735752		2203	4300	6503	242802375	SO:0001583	missense	257044	exon11			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.1628T>G	1.37:g.244735752T>G	ENSP00000355492:p.Phe543Cys		242802375	NM_173807	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021851	0.19433	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.19	-10.4	0.00318	.	3.119150	0.00757	N	0.001117	T	0.13286	0.0322	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.09022	0.0;0.001;0.002;0.001	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.17715	-1.0360	10	0.54805	T	0.06	.	0.8801	0.01232	0.1948:0.2779:0.3046:0.2227	.	463;543;543;392	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	C	543;543;543;463;392	ENSP00000355492:F543C;ENSP00000355491:F543C;ENSP00000395796:F463C;ENSP00000355489:F392C	ENSP00000355489:F392C	F	+	2	0	C1orf101	242802375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.079000	0.03410	-1.634000	0.01537	0.528000	0.53228	TTC		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807	
VN1R5	317705	broad.mit.edu	37	1	247419954	247419954	+	IGR	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:247419954G>A								RP11-488L18.8 (14829 upstream) : Y_RNA (38182 downstream)																							GTGAAACGGGGCCAGTCTTCT	0.468																																					p.G194D												.	.	0			c.G581A	1						.						256.0	242.0	247.0					1																	247419954		1923	4139	6062	245486577	SO:0001628	intergenic_variant	317705	exon1																															1.37:g.247419954G>A			245486577	NM_173858		Missense_Mutation	SNP		37																																																																																				0	0.468								
NLRP3	114548	broad.mit.edu	37	1	247611728	247611728	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:247611728T>G	ENST00000336119.3	+	9	3779	c.3033T>G	c.(3031-3033)aaT>aaG	p.N1011K	NLRP3_ENST00000366496.2_Missense_Mutation_p.N954K|NLRP3_ENST00000391828.3_Missense_Mutation_p.N1011K|NLRP3_ENST00000366497.2_Missense_Mutation_p.N954K|NLRP3_ENST00000391827.2_Missense_Mutation_p.N954K|NLRP3_ENST00000348069.2_Missense_Mutation_p.N897K	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	1011					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.N1011K(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)			TGTATTTCAATTATGAGACAA	0.428																																					p.N1011K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3033G	1						.						98.0	102.0	100.0					1																	247611728		2203	4300	6503	245678351	SO:0001583	missense	114548	exon9			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.3033T>G	1.37:g.247611728T>G	ENSP00000337383:p.Asn1011Lys		245678351	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550089	0.45383	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.36	-0.448	0.12230	.	0.000000	0.45867	D	0.000325	T	0.37073	0.0990	L	0.60455	1.87	0.26033	N	0.981718	P;P;B;B;P	0.40066	0.57;0.701;0.2;0.05;0.615	B;B;B;B;B	0.39185	0.196;0.293;0.047;0.022;0.155	T	0.25398	-1.0133	10	0.26408	T	0.33	.	7.2261	0.26016	0.0:0.4719:0.0:0.5281	.	991;954;897;954;1011	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	1011;954;1011;897;954;954	ENSP00000375704:N1011K;ENSP00000355453:N954K;ENSP00000337383:N1011K;ENSP00000294752:N897K;ENSP00000355452:N954K;ENSP00000375703:N954K	ENSP00000337383:N1011K	N	+	3	2	NLRP3	245678351	0.963000	0.33076	0.551000	0.28230	0.964000	0.63967	0.032000	0.13732	-0.086000	0.12550	0.443000	0.29094	AAT		0.428	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
TRIM58	25893	broad.mit.edu	37	1	248023999	248023999	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:248023999G>T	ENST00000366481.3	+	2	549	c.501G>T	c.(499-501)aaG>aaT	p.K167N		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	167						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K167N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGGAAAAAGACTGTCATTT	0.478																																					p.K167N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G501T	1						.						106.0	106.0	106.0					1																	248023999		2203	4300	6503	246090622	SO:0001583	missense	25893	exon2			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.501G>T	1.37:g.248023999G>T	ENSP00000355437:p.Lys167Asn		246090622	NM_015431	Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253814	0.22965	.	.	ENSG00000162722	ENST00000366481	T	0.06294	3.32	4.02	0.881	0.19166	.	0.233460	0.29853	N	0.011038	T	0.09202	0.0227	M	0.63428	1.95	0.09310	N	1	P	0.42483	0.781	P	0.44732	0.459	T	0.10823	-1.0613	10	0.87932	D	0	.	6.6317	0.22861	0.2905:0.0:0.7095:0.0	.	167	Q8NG06	TRI58_HUMAN	N	167	ENSP00000355437:K167N	ENSP00000355437:K167N	K	+	3	2	TRIM58	246090622	0.956000	0.32656	0.113000	0.21522	0.012000	0.07955	0.603000	0.24149	0.360000	0.24265	0.655000	0.94253	AAG		0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
OR2T33	391195	broad.mit.edu	37	1	248436194	248436194	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:248436194T>C	ENST00000318021.2	-	1	944	c.923A>G	c.(922-924)aAc>aGc	p.N308S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N308S(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)			GTGTTTTATGTTTACACACGT	0.403																																					p.N308S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A923G	1						.						154.0	155.0	154.0					1																	248436194		2203	4300	6503	246502817	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.923A>G	1.37:g.248436194T>C	ENSP00000324687:p.Asn308Ser		246502817	NM_001004695	B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.007	-1.941305	0.00479	.	.	ENSG00000177212	ENST00000318021	T	0.35789	1.29	1.54	0.185	0.15096	.	1.741500	0.04297	U	0.346628	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.16289	0.015	T	0.18461	-1.0336	10	0.02654	T	1	.	4.5755	0.12232	0.2863:0.0:0.0:0.7137	.	308	Q8NG76	O2T33_HUMAN	S	308	ENSP00000324687:N308S	ENSP00000324687:N308S	N	-	2	0	OR2T33	246502817	0.000000	0.05858	0.001000	0.08648	0.153000	0.21895	-0.178000	0.09782	0.032000	0.15435	0.147000	0.16070	AAC		0.403	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T33	391195	broad.mit.edu	37	1	248436682	248436682	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:248436682C>T	ENST00000318021.2	-	1	456	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S145S(2)		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)			GGAGCCAACACGACATGGTCA	0.572																																					p.S145S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G435A	1						.						146.0	138.0	141.0					1																	248436682		2203	4300	6503	246503305	SO:0001819	synonymous_variant	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.435G>A	1.37:g.248436682C>T			246503305	NM_001004695	B2RNN0	Silent	SNP	ENST00000318021.2	37	CCDS31109.1																																																																																				0.572	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695	
OR2T4	127074	broad.mit.edu	37	1	248525879	248525879	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:248525879C>A	ENST00000366475.1	+	1	997	c.997C>A	c.(997-999)Ctg>Atg	p.L333M		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	333						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L333M(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CATGGGGGCTCTGAAGAAAAT	0.408																																					p.L333M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997A	1						.						107.0	113.0	111.0					1																	248525879		2203	4300	6503	246592502	SO:0001583	missense	127074	exon1			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.997C>A	1.37:g.248525879C>A	ENSP00000355431:p.Leu333Met		246592502	NM_001004696	Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531173	0.13127	.	.	ENSG00000196944	ENST00000366475	T	0.46451	0.87	3.0	-1.77	0.07982	.	0.402618	0.17996	N	0.155046	T	0.22085	0.0532	N	0.21545	0.675	0.09310	N	1	B	0.32829	0.386	B	0.35770	0.21	T	0.10200	-1.0640	10	0.39692	T	0.17	.	2.287	0.04129	0.1343:0.4113:0.2651:0.1892	.	333	Q8NH00	OR2T4_HUMAN	M	333	ENSP00000355431:L333M	ENSP00000355431:L333M	L	+	1	2	OR2T4	246592502	0.000000	0.05858	0.681000	0.30009	0.961000	0.63080	-0.761000	0.04751	0.024000	0.15214	-0.291000	0.09656	CTG		0.408	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
PRDM16	63976	broad.mit.edu	37	1	3328634	3328634	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:3328634C>A	ENST00000270722.5	+	9	1922	c.1873C>A	c.(1873-1875)Ctg>Atg	p.L625M	PRDM16_ENST00000378398.3_Missense_Mutation_p.L626M|PRDM16_ENST00000442529.2_Missense_Mutation_p.L625M|PRDM16_ENST00000378391.2_Missense_Mutation_p.L625M|PRDM16_ENST00000511072.1_Missense_Mutation_p.L626M|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.L625M|PRDM16_ENST00000514189.1_Missense_Mutation_p.L626M			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	625					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.L625M(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCTCGGACCTGGACAGCGA	0.682			T	EVI1	"""MDS, AML"""																																p.L625M			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1873A	1						.						65.0	76.0	72.0					1																	3328634		2165	4251	6416	3318494	SO:0001583	missense	63976	exon9			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1873C>A	1.37:g.3328634C>A	ENSP00000270722:p.Leu625Met		3318494	NM_022114	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015191	0.35511	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.10192	2.95;2.95;2.96;2.97;2.95;2.97;2.96;2.9;2.91	5.1	4.18	0.49190	.	0.000000	0.39909	N	0.001240	T	0.30230	0.0758	M	0.75264	2.295	0.45594	D	0.99853	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.988;0.999;0.977;0.997	T	0.02098	-1.1214	10	0.72032	D	0.01	.	9.7764	0.40621	0.0:0.8417:0.0:0.1583	.	625;625;625;625	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	M	626;626;625;625;625;626;625;441;441;434	ENSP00000426975:L626M;ENSP00000367651:L626M;ENSP00000407968:L625M;ENSP00000405253:L625M;ENSP00000367643:L625M;ENSP00000421400:L626M;ENSP00000270722:L625M;ENSP00000422504:L441M;ENSP00000425796:L434M	ENSP00000270722:L625M	L	+	1	2	PRDM16	3318494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.980000	0.56895	1.145000	0.42336	0.609000	0.83330	CTG		0.682	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114	
PER3	8863	broad.mit.edu	37	1	7886608	7886608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:7886608G>T	ENST00000361923.2	+	16	2177	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	PER3_ENST00000377532.3_Nonsense_Mutation_p.E676*|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	668	CSNK1E binding domain. {ECO:0000250}.				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.E668*(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)		GACCTCGGAAGAATTTAAACA	0.483																																					p.E668X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2002T	1						.						61.0	58.0	59.0					1																	7886608		2203	4300	6503	7809195	SO:0001587	stop_gained	8863	exon16			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.2002G>T	1.37:g.7886608G>T	ENSP00000355031:p.Glu668*		7809195	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Nonsense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	39	7.875677	0.98537	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	.	.	.	4.62	3.7	0.42460	.	0.251086	0.37669	N	0.001993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	14.0932	0.65004	0.0:0.1509:0.849:0.0	.	.	.	.	X	676;668	.	ENSP00000355031:E668X	E	+	1	0	PER3	7809195	0.997000	0.39634	0.001000	0.08648	0.005000	0.04900	5.719000	0.68462	1.153000	0.42468	0.655000	0.94253	GAA		0.483	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
PER3	8863	broad.mit.edu	37	1	7889901	7889901	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:7889901T>G	ENST00000361923.2	+	18	3042	c.2867T>G	c.(2866-2868)gTt>gGt	p.V956G	PER3_ENST00000377532.3_Missense_Mutation_p.V965G|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	956					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.V956G(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)		TAGCAGTGTGTTACAGGCAAC	0.468																																					p.V956G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2867G	1						.						100.0	93.0	95.0					1																	7889901		2203	4300	6503	7812488	SO:0001583	missense	8863	exon18			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.2867T>G	1.37:g.7889901T>G	ENSP00000355031:p.Val956Gly		7812488	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	T	2.786	-0.252443	0.05829	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10960	2.89;2.82	3.58	1.01	0.19927	.	2.570310	0.01499	N	0.017409	T	0.16041	0.0386	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.57571	0.965;0.965;0.98;0.965	B;B;P;P	0.51806	0.396;0.396;0.68;0.481	T	0.16928	-1.0386	10	0.22706	T	0.39	.	2.5655	0.04782	0.2311:0.1299:0.0:0.639	.	956;965;965;956	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	G	965;956;167	ENSP00000366755:V965G;ENSP00000355031:V956G	ENSP00000355031:V956G	V	+	2	0	PER3	7812488	0.001000	0.12720	0.006000	0.13384	0.174000	0.22865	0.124000	0.15728	0.574000	0.29417	0.383000	0.25322	GTT		0.468	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
NMNAT1	64802	broad.mit.edu	37	1	10042655	10042655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:10042655G>T	ENST00000377205.1	+	5	880	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	RP11-807G9.2_ENST00000413148.1_RNA	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	246					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.E246*(1)		large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TCTTGTCCAAGAATACATTGA	0.473																																					p.E246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G736T	1						.						55.0	55.0	55.0					1																	10042655		2203	4300	6503	9965242	SO:0001587	stop_gained	64802	exon5			AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.736G>T	1.37:g.10042655G>T	ENSP00000366410:p.Glu246*		9965242	NM_022787	B1AN63|Q8TAE9|Q9H247|Q9H6B6	Nonsense_Mutation	SNP	ENST00000377205.1	37	CCDS108.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124050	0.77436	.	.	ENSG00000173614	ENST00000377205	.	.	.	5.01	4.03	0.46877	.	0.409347	0.26598	N	0.023499	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	2.5164	15.9812	0.80111	0.0:0.1345:0.8655:0.0	.	.	.	.	X	246	.	ENSP00000366410:E246X	E	+	1	0	NMNAT1	9965242	0.984000	0.35163	0.368000	0.25939	0.472000	0.32918	3.073000	0.50057	2.476000	0.83614	0.462000	0.41574	GAA		0.473	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1		
MAN1C1	57134	broad.mit.edu	37	1	26013007	26013007	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:26013007G>A	ENST00000374332.4	+	2	947	c.617G>A	c.(616-618)gGc>gAc	p.G206D	MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000263979.3_Missense_Mutation_p.G26D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	206					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G206D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACAAAAGATGGCTACGAGGGT	0.478																																					p.G206D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G617A	1						.						145.0	136.0	139.0					1																	26013007		2203	4300	6503	25885594	SO:0001583	missense	57134	exon2			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.617G>A	1.37:g.26013007G>A	ENSP00000363452:p.Gly206Asp		25885594	NM_020379	A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688199	0.68271	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.73789	-0.78;-0.78	5.3	5.3	0.74995	.	0.122272	0.53938	D	0.000042	D	0.89220	0.6653	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.91472	0.5197	10	0.72032	D	0.01	.	14.8058	0.69956	0.0:0.0:1.0:0.0	.	206	Q9NR34	MA1C1_HUMAN	D	206;26;26	ENSP00000363452:G206D;ENSP00000263979:G26D	ENSP00000263979:G26D	G	+	2	0	MAN1C1	25885594	1.000000	0.71417	0.999000	0.59377	0.515000	0.34225	7.203000	0.77864	2.632000	0.89209	0.563000	0.77884	GGC		0.478	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379	
PAFAH2	5051	broad.mit.edu	37	1	26315944	26315944	+	Missense_Mutation	SNP	G	G	A	rs200838441		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:26315944G>A	ENST00000374282.3	-	3	418	c.239C>T	c.(238-240)gCg>gTg	p.A80V	PAFAH2_ENST00000493892.1_Intron|PAFAH2_ENST00000374284.1_Missense_Mutation_p.A80V	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	80					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)	p.A80V(1)		NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACCCACCGCCAGGTTGAA	0.582																																					p.A80V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C239T	1						.	G	VAL/ALA	0,4406		0,0,2203	61.0	63.0	62.0		239	0.7	0.1	1		62	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PAFAH2	NM_000437.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	80/393	26315944	1,13005	2203	4300	6503	26188531	SO:0001583	missense	5051	exon3			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.239C>T	1.37:g.26315944G>A	ENSP00000363400:p.Ala80Val		26188531	NM_000437	D3DPK1|O15458|Q5SY02	Missense_Mutation	SNP	ENST00000374282.3	37	CCDS270.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254884	0.22965	0.0	1.16E-4	ENSG00000158006	ENST00000374282;ENST00000374284;ENST00000439092;ENST00000441420	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.89	0.738	0.18319	.	0.407397	0.23676	N	0.045661	T	0.18718	0.0449	N	0.12569	0.235	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.18681	-1.0329	10	0.17369	T	0.5	-0.6346	5.3729	0.16150	0.2843:0.2609:0.4549:0.0	.	80	Q99487	PAFA2_HUMAN	V	80	ENSP00000363400:A80V;ENSP00000363402:A80V;ENSP00000408313:A80V;ENSP00000411011:A80V	ENSP00000363400:A80V	A	-	2	0	PAFAH2	26188531	0.739000	0.28196	0.075000	0.20258	0.803000	0.45373	0.966000	0.29331	-0.094000	0.12374	0.563000	0.77884	GCG		0.582	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019544.1	NM_000437	
DHDDS	79947	broad.mit.edu	37	1	26786594	26786594	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:26786594G>A	ENST00000236342.7	+	8	817	c.724G>A	c.(724-726)Gag>Aag	p.E242K	DHDDS_ENST00000525682.2_Missense_Mutation_p.E208K|DHDDS_ENST00000360009.2_Missense_Mutation_p.E242K|RP3-476K8.3_ENST00000423060.1_RNA|DHDDS_ENST00000526219.1_Missense_Mutation_p.E203K			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	242					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.E242K(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GAACCTCTTCGAGGCCATCCT	0.493																																					p.E242K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	1						.						147.0	133.0	138.0					1																	26786594		2203	4300	6503	26659181	SO:0001583	missense	79947	exon8			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.724G>A	1.37:g.26786594G>A	ENSP00000236342:p.Glu242Lys		26659181	NM_024887	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	CCDS282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.687|9.687	1.150813|1.150813	0.21371|0.21371	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000430232|ENST00000416052	T;T;T;T;T|.	0.54071|.	0.59;0.59;0.59;0.59;0.59|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55049|0.55049	0.1896|0.1896	N|N	0.21194|0.21194	0.64|0.64	0.80722|0.80722	D|D	1|1	B;D;B;B|.	0.54397|.	0.134;0.966;0.011;0.009|.	B;P;B;B|.	0.48770|.	0.019;0.589;0.019;0.011|.	T|T	0.48681|0.48681	-0.9014|-0.9014	10|5	0.13108|.	T|.	0.6|.	-10.5716|-10.5716	18.564|18.564	0.91111|0.91111	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	208;203;242;242|.	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2|.	.;.;DHDDS_HUMAN;.|.	K|Q	138;208;242;203;242;203|118	ENSP00000434984:E208K;ENSP00000236342:E242K;ENSP00000434219:E203K;ENSP00000353104:E242K;ENSP00000397584:E203K|.	ENSP00000236342:E242K|.	E|R	+|+	1|2	0|0	DHDDS|DHDDS	26659181|26659181	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.387000|0.387000	0.30353|0.30353	7.750000|7.750000	0.85110|0.85110	2.699000|2.699000	0.92147|0.92147	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887	
ARID1A	8289	broad.mit.edu	37	1	27106354	27106354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:27106354C>T	ENST00000324856.7	+	20	6336	c.5965C>T	c.(5965-5967)Cga>Tga	p.R1989*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1606*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R317*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1772*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1989					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.R1989*(8)	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)		CAATACCATTCGAAGCCTGTC	0.552			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.R1989X			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	8	Substitution - Nonsense(8)	ovary(2)|large_intestine(2)|endometrium(2)|pancreas(2)	c.C5965T	1						.						116.0	98.0	104.0					1																	27106354		2203	4300	6503	26978941	SO:0001587	stop_gained	8289	exon20			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.5965C>T	1.37:g.27106354C>T	ENSP00000320485:p.Arg1989*		26978941	NM_006015	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.391795|10.391795	0.99396|0.99396	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65091	.|0.2658	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62291	.|-0.6885	.|4	0.02654|.	T|.	1|.	-1.0676|-1.0676	13.6179|13.6179	0.62120|0.62120	0.1916:0.8084:0.0:0.0|0.1916:0.8084:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1989;1772;1606;317|885	.|.	ENSP00000320485:R1989X|.	R|S	+|+	1|2	2|0	ARID1A|ARID1A	26978941|26978941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.555000|4.555000	0.60767|0.60767	2.760000|2.760000	0.94817|0.94817	0.478000|0.478000	0.44815|0.44815	CGA|TCG		0.552	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
PIGV	55650	broad.mit.edu	37	1	27120648	27120648	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:27120648C>T	ENST00000374145.1	+	3	805	c.123C>T	c.(121-123)ttC>ttT	p.F41F	PIGV_ENST00000449950.2_Missense_Mutation_p.S12F|PIGV_ENST00000078527.4_Silent_p.F41F	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	41					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.F41F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CAGAAGCCTTCTCTCCTCCTC	0.507																																					p.F41F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C123T	1						.						100.0	94.0	96.0					1																	27120648		2203	4300	6503	26993235	SO:0001819	synonymous_variant	55650	exon3			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.123C>T	1.37:g.27120648C>T			26993235	NM_017837	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	ENST00000374145.1	37	CCDS287.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.296021	0.60086	.	.	ENSG00000060642	ENST00000449950	.	.	.	5.43	-0.373	0.12516	.	.	.	.	.	T	0.38348	0.1037	.	.	.	0.38673	D	0.952358	B	0.13145	0.007	B	0.12156	0.007	T	0.12889	-1.0530	6	.	.	.	-17.6056	9.0328	0.36269	0.0:0.5705:0.0:0.4295	.	12	B4DWP9	.	F	12	.	.	S	+	2	0	PIGV	26993235	0.992000	0.36948	0.099000	0.21106	0.977000	0.68977	1.207000	0.32333	-0.365000	0.08076	0.558000	0.71614	TCT		0.507	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1	NM_017837	
THEMIS2	9473	broad.mit.edu	37	1	28206484	28206484	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:28206484G>T	ENST00000373921.3	+	3	569	c.565G>T	c.(565-567)Gac>Tac	p.D189Y	THEMIS2_ENST00000328928.7_Missense_Mutation_p.D189Y|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Missense_Mutation_p.D189Y	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	189	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D189Y(1)									AGCCCTGAAAGACCTCGTCCT	0.612																																					p.D189Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G565T	1						.						57.0	47.0	50.0					1																	28206484		2203	4300	6503	28079071	SO:0001583	missense	9473	exon3			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.565G>T	1.37:g.28206484G>T	ENSP00000363031:p.Asp189Tyr		28079071	NM_001105556	A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.474|6.474	0.455663|0.455663	0.12283|0.12283	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000373925;ENST00000328928;ENST00000373921|ENST00000456990	T;T;T|T	0.14391|0.14640	2.51;2.51;2.51|2.49	4.81|4.81	1.85|1.85	0.25348|0.25348	.|.	0.525318|.	0.21616|.	N|.	0.071702|.	T|T	0.16041|0.16041	0.0386|0.0386	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P;P;D|.	0.55172|.	0.904;0.922;0.97|.	P;P;P|.	0.50537|.	0.582;0.642;0.643|.	T|T	0.19647|0.19647	-1.0299|-1.0299	10|7	0.56958|0.59425	D|D	0.05|0.04	-15.853|-15.853	4.9792|4.9792	0.14157|0.14157	0.2523:0.1584:0.5892:0.0|0.2523:0.1584:0.5892:0.0	.|.	189;189;189|.	Q5TEJ8-5;Q5TEJ8;Q5TEJ8-2|.	.;THMS2_HUMAN;.|.	Y|N	189|81	ENSP00000363035:D189Y;ENSP00000329862:D189Y;ENSP00000363031:D189Y|ENSP00000398049:K81N	ENSP00000329862:D189Y|ENSP00000398049:K81N	D|K	+|+	1|3	0|2	C1orf38|C1orf38	28079071|28079071	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.020000|0.020000	0.10135|0.10135	0.966000|0.966000	0.29331|0.29331	0.549000|0.549000	0.28973|0.28973	0.561000|0.561000	0.74099|0.74099	GAC|AAG		0.612	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848	
CSMD2	114784	broad.mit.edu	37	1	34208949	34208949	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:34208949T>C	ENST00000373381.4	-	14	2281	c.2105A>G	c.(2104-2106)cAc>cGc	p.H702R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	662	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H662R(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGGGCCACGTGGCCACTGCT	0.597																																					p.H662R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1985G	1						.						58.0	52.0	54.0					1																	34208949		2203	4300	6503	33981536	SO:0001583	missense	114784	exon14			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2105A>G	1.37:g.34208949T>C	ENSP00000362479:p.His702Arg		33981536	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	T	24.5	4.536780	0.85812	.	.	ENSG00000121904	ENST00000373381	T	0.33216	1.42	5.69	5.69	0.88448	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.28344	0.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.28713	-1.0035	10	0.44086	T	0.13	.	15.4289	0.75077	0.0:0.0:0.0:1.0	.	662;702	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	702	ENSP00000362479:H702R	ENSP00000241312:H662R	H	-	2	0	CSMD2	33981536	1.000000	0.71417	0.999000	0.59377	0.863000	0.49368	7.948000	0.87774	2.291000	0.77112	0.533000	0.62120	CAC		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
GRIK3	2899	broad.mit.edu	37	1	37346416	37346416	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:37346416G>T	ENST00000373091.3	-	3	385	c.369C>A	c.(367-369)tcC>tcA	p.S123S	GRIK3_ENST00000373093.4_Silent_p.S123S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	123					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.S123S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CATTGCAGATGGACTGGACGG	0.622																																					p.S123S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C369A	1						.						155.0	141.0	146.0					1																	37346416		2203	4300	6503	37119003	SO:0001819	synonymous_variant	2899	exon3			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.369C>A	1.37:g.37346416G>T			37119003	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
MACF1	23499	broad.mit.edu	37	1	39759288	39759288	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:39759288C>A	ENST00000372915.3	+	17	2253	c.2166C>A	c.(2164-2166)ttC>ttA	p.F722L	MACF1_ENST00000539005.1_Missense_Mutation_p.F722L|MACF1_ENST00000564288.1_Missense_Mutation_p.F717L|MACF1_ENST00000317713.7_Missense_Mutation_p.F722L|MACF1_ENST00000361689.2_Missense_Mutation_p.F722L|MACF1_ENST00000545844.1_Missense_Mutation_p.F722L|MACF1_ENST00000567887.1_Missense_Mutation_p.F754L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	722					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.F722L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAATTACTTCTCTGTGAGTC	0.468																																					p.F722L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2166A	1						.						122.0	109.0	114.0					1																	39759288		2203	4300	6503	39531875	SO:0001583	missense	23499	exon19			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.2166C>A	1.37:g.39759288C>A	ENSP00000362006:p.Phe722Leu		39531875	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	16.81	3.226364	0.58668	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.65916	-0.18;-0.11;-0.18;-0.18;-0.18;-0.18;-0.18	5.63	4.72	0.59763	.	.	.	.	.	T	0.63034	0.2477	L	0.59436	1.845	0.80722	D	1	B;P	0.41313	0.046;0.745	B;P	0.47376	0.037;0.545	T	0.58912	-0.7552	9	0.20519	T	0.43	.	11.0104	0.47659	0.0:0.8578:0.0:0.1422	.	722;687	F8W8Q1;Q9UPN3-3	.;.	L	722;722;722;722;722;680;871;882	ENSP00000439537:F722L;ENSP00000362006:F722L;ENSP00000354573:F722L;ENSP00000313438:F722L;ENSP00000444364:F722L;ENSP00000435070:F680L;ENSP00000437059:F871L	ENSP00000313438:F722L	F	+	3	2	MACF1	39531875	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.798000	0.27014	1.533000	0.49186	-0.140000	0.14226	TTC		0.468	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	39789938	39789938	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:39789938C>T	ENST00000372915.3	+	33	4412	c.4325C>T	c.(4324-4326)gCg>gTg	p.A1442V	MACF1_ENST00000539005.1_Missense_Mutation_p.A1442V|MACF1_ENST00000564288.1_Missense_Mutation_p.A1437V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.A1442V|MACF1_ENST00000361689.2_Missense_Mutation_p.A1442V|MACF1_ENST00000545844.1_Missense_Mutation_p.A1442V|MACF1_ENST00000567887.1_Missense_Mutation_p.A1474V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1442					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.A1442V(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)			TCTACCCTAGCGAGGAATACA	0.403																																					p.A1442V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4325T	1						.						102.0	92.0	96.0					1																	39789938		2203	4300	6503	39562525	SO:0001583	missense	23499	exon35			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.4325C>T	1.37:g.39789938C>T	ENSP00000362006:p.Ala1442Val		39562525	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	10.42	1.346566	0.24426	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262	T;T;T;T;T;T	0.63580	-0.02;0.05;-0.02;-0.05;0.13;2.01	6.16	5.25	0.73442	.	.	.	.	.	T	0.53077	0.1774	L	0.47716	1.5	0.58432	D	0.999997	B;B;P	0.34546	0.427;0.099;0.456	B;B;B	0.32393	0.145;0.019;0.103	T	0.56679	-0.7939	9	0.59425	D	0.04	.	10.0224	0.42051	0.1695:0.7596:0.0:0.0708	.	1442;1442;1407	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	V	1442;1442;1442;1442;1442;1591	ENSP00000439537:A1442V;ENSP00000362006:A1442V;ENSP00000354573:A1442V;ENSP00000313438:A1442V;ENSP00000444364:A1442V;ENSP00000437059:A1591V	ENSP00000313438:A1442V	A	+	2	0	MACF1	39562525	0.576000	0.26700	0.300000	0.25030	0.080000	0.17528	1.021000	0.30040	1.617000	0.50277	0.650000	0.86243	GCG		0.403	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	39792959	39792959	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:39792959T>C	ENST00000372915.3	+	35	4650	c.4563T>C	c.(4561-4563)ctT>ctC	p.L1521L	MACF1_ENST00000539005.1_Silent_p.L1521L|MACF1_ENST00000564288.1_Silent_p.L1516L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Silent_p.L1521L|MACF1_ENST00000361689.2_Silent_p.L1521L|MACF1_ENST00000545844.1_Silent_p.L1521L|MACF1_ENST00000567887.1_Silent_p.L1553L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1521					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.L1521L(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)			ACCATGACCTTTGTGATGGTT	0.408																																					p.L1521L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4563C	1						.						83.0	78.0	80.0					1																	39792959		2203	4300	6503	39565546	SO:0001819	synonymous_variant	23499	exon37			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.4563T>C	1.37:g.39792959T>C			39565546	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																					0.408	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	39801074	39801074	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:39801074T>G	ENST00000372915.3	+	36	8916	c.8829T>G	c.(8827-8829)aaT>aaG	p.N2943K	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.N2938K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.N1378K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.N2975K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2943					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.N1378K(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)			TAAGAGAAAATCAAGGGGAAG	0.378																																					p.N1378K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4134G	1						.						49.0	53.0	52.0					1																	39801074		2203	4300	6503	39573661	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.8829T>G	1.37:g.39801074T>G	ENSP00000362006:p.Asn2943Lys		39573661	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	T	8.293	0.818093	0.16607	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.62788	0.0;1.1	5.09	0.476	0.16779	.	1.437400	0.04470	N	0.375800	T	0.42131	0.1189	N	0.14661	0.345	0.09310	N	1	B	0.20164	0.042	B	0.22753	0.041	T	0.20075	-1.0286	10	0.28530	T	0.3	.	2.9765	0.05939	0.1951:0.3325:0.0:0.4723	.	2943	Q9UPN3	MACF1_HUMAN	K	2943;1378	ENSP00000362006:N2943K;ENSP00000289893:N1378K	ENSP00000289893:N1378K	N	+	3	2	MACF1	39573661	0.020000	0.18652	0.217000	0.23759	0.939000	0.58152	0.224000	0.17738	0.051000	0.15978	0.383000	0.25322	AAT		0.378	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	39816667	39816667	+	Missense_Mutation	SNP	G	G	A	rs367562249		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:39816667G>A	ENST00000372915.3	+	42	11278	c.11191G>A	c.(11191-11193)Gcc>Acc	p.A3731T	MACF1_ENST00000539005.1_Missense_Mutation_p.A1664T|MACF1_ENST00000564288.1_Missense_Mutation_p.A3726T|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.A1664T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2166T|MACF1_ENST00000361689.2_Missense_Mutation_p.A1664T|MACF1_ENST00000545844.1_Missense_Mutation_p.A1664T|MACF1_ENST00000567887.1_Missense_Mutation_p.A3763T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3731					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.A2166T(1)|p.A1664T(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)			AGTGACCTCCGCCTTACAGCA	0.458																																					p.A1664T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4990A	1						.	G	THR/ALA,THR/ALA	1,4405		0,1,2202	59.0	59.0	59.0		4990,6496	6.1	1.0	1		59	0,8600		0,0,4300	no	missense,missense	MACF1	NM_012090.4,NM_033044.3	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1664/5431,2166/5939	39816667	1,13005	2203	4300	6503	39589254	SO:0001583	missense	23499	exon39			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.11191G>A	1.37:g.39816667G>A	ENSP00000362006:p.Ala3731Thr		39589254	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376626|3.376626	0.61735|0.61735	2.27E-4|2.27E-4	0.0|0.0	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;D;T|.	0.88896|.	-0.13;-0.11;-0.13;-0.16;0.01;-2.44;1.0|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.79015|0.79015	0.4375|0.4375	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.50819|.	0.152;0.939;0.854;0.879|.	B;P;B;B|.	0.44946|.	0.153;0.465;0.292;0.334|.	T|T	0.76961|0.76961	-0.2765|-0.2765	10|5	0.62326|.	D|.	0.03|.	.|.	20.2194|20.2194	0.98323|0.98323	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3731;1664;1664;1629|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	T|H	1664;3731;1664;1664;1664;1813;2166|797	ENSP00000439537:A1664T;ENSP00000362006:A3731T;ENSP00000354573:A1664T;ENSP00000313438:A1664T;ENSP00000444364:A1664T;ENSP00000437059:A1813T;ENSP00000289893:A2166T|.	ENSP00000289893:A2166T|.	A|R	+|+	1|2	0|0	MACF1|MACF1	39589254|39589254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	6.266000|6.266000	0.72540|0.72540	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
RLF	6018	broad.mit.edu	37	1	40704701	40704701	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:40704701G>T	ENST00000372771.4	+	8	4354	c.4327G>T	c.(4327-4329)Gaa>Taa	p.E1443*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1443					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.E1443*(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)			TTCAGATTATGAAATTCATTG	0.363																																					p.E1443X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4327T	1						.						55.0	56.0	56.0					1																	40704701		2203	4299	6502	40477288	SO:0001587	stop_gained	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4327G>T	1.37:g.40704701G>T	ENSP00000361857:p.Glu1443*		40477288	NM_012421	Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222633	0.98714	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	6.17	6.17	0.99709	.	0.119316	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.8782	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1443;1136	.	ENSP00000361857:E1443X	E	+	1	0	RLF	40477288	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.682000	0.68182	2.941000	0.99782	0.655000	0.94253	GAA		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	broad.mit.edu	37	1	40705211	40705211	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:40705211G>A	ENST00000372771.4	+	8	4864	c.4837G>A	c.(4837-4839)Gaa>Aaa	p.E1613K		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1613					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.E1613K(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)			TATAAAGAAAGAAGAAAATAG	0.443																																					p.E1613K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4837A	1						.						46.0	48.0	47.0					1																	40705211		2203	4300	6503	40477798	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4837G>A	1.37:g.40705211G>A	ENSP00000361857:p.Glu1613Lys		40477798	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	6.656	0.489534	0.12641	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13657	2.57	5.93	5.02	0.67125	.	0.472650	0.25205	N	0.032359	T	0.10637	0.0260	L	0.36672	1.1	0.32075	N	0.593928	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.06679	-1.0813	10	0.36615	T	0.2	-12.6865	6.95	0.24540	0.1918:0.1348:0.6734:0.0	.	1306;1613	F5H2M5;Q13129	.;RLF_HUMAN	K	1613;1306	ENSP00000361857:E1613K	ENSP00000361857:E1613K	E	+	1	0	RLF	40477798	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.913000	0.63341	1.521000	0.48983	0.655000	0.94253	GAA		0.443	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
TMCO2	127391	broad.mit.edu	37	1	40717159	40717159	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:40717159G>A	ENST00000372766.3	+	2	535	c.442G>A	c.(442-444)Gtt>Att	p.V148I	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	148						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V148I(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGGGATAATCGTTGCTCAAAA	0.443																																					p.V148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442A	1						.						68.0	71.0	70.0					1																	40717159		2203	4300	6503	40489746	SO:0001583	missense	127391	exon2			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.442G>A	1.37:g.40717159G>A	ENSP00000361852:p.Val148Ile		40489746	NM_001008740		Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.177217	0.00312	.	.	ENSG00000188800	ENST00000372766	.	.	.	5.11	-2.89	0.05665	.	0.626644	0.14841	N	0.295266	T	0.09686	0.0238	N	0.02539	-0.55	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.31752	-0.9932	9	0.02654	T	1	-1.1451	6.3636	0.21443	0.4141:0.151:0.4349:0.0	.	148	Q7Z6W1	TMCO2_HUMAN	I	148	.	ENSP00000361852:V148I	V	+	1	0	TMCO2	40489746	0.997000	0.39634	0.730000	0.30809	0.036000	0.12997	0.409000	0.21082	-0.753000	0.04721	-1.899000	0.00529	GTT		0.443	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740	
KCNQ4	9132	broad.mit.edu	37	1	41300696	41300696	+	Silent	SNP	C	C	T	rs542936837		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:41300696C>T	ENST00000347132.5	+	12	1753	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.D503D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	557	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.D557D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GACCGTACGACGTGAAGGACG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19977	0.001		0.0	False		,,,				2504	0.0				p.D557D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1671T	1						.						128.0	114.0	119.0					1																	41300696		2203	4300	6503	41073283	SO:0001819	synonymous_variant	9132	exon12			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1671C>T	1.37:g.41300696C>T			41073283	NM_004700	O96025	Silent	SNP	ENST00000347132.5	37	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	9.365	1.068929	0.20147	.	.	ENSG00000117013	ENST00000443478	.	.	.	5.12	1.45	0.22620	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42085	-0.9472	4	.	.	.	-29.3638	5.9979	0.19505	0.0:0.3712:0.0:0.6288	.	.	.	.	C	418	.	.	R	+	1	0	KCNQ4	41073283	0.504000	0.26123	1.000000	0.80357	0.994000	0.84299	-0.251000	0.08818	0.565000	0.29255	0.551000	0.68910	CGT		0.587	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
ZMYND12	84217	broad.mit.edu	37	1	42902188	42902188	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:42902188T>G	ENST00000372565.3	-	5	890	c.621A>C	c.(619-621)ggA>ggC	p.G207G	ZMYND12_ENST00000475426.1_5'Flank|ZMYND12_ENST00000433602.2_Silent_p.G97G	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	207						intracellular (GO:0005622)	metal ion binding (GO:0046872)	p.G207G(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCCTCTGTTCCAAATGCAC	0.398																																					p.G207G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A621C	1						.						95.0	91.0	92.0					1																	42902188		2203	4300	6503	42674775	SO:0001819	synonymous_variant	84217	exon5			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.621A>C	1.37:g.42902188T>G			42674775	NM_032257	Q5VUS6|Q8TC87|Q96M51	Silent	SNP	ENST00000372565.3	37	CCDS467.1																																																																																				0.398	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257	
KDM4A	9682	broad.mit.edu	37	1	44154700	44154700	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:44154700C>A	ENST00000372396.3	+	13	2105	c.1971C>A	c.(1969-1971)ttC>ttA	p.F657L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	657					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGAAGGAATTCAATGAGACCA	0.547																																					p.F657L												.	.	0			c.C1971A	1						.						112.0	98.0	103.0					1																	44154700		2203	4300	6503	43927287	SO:0001583	missense	9682	exon13			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1971C>A	1.37:g.44154700C>A	ENSP00000361473:p.Phe657Leu		43927287	NM_014663	Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378445	0.61735	.	.	ENSG00000066135	ENST00000372396	T	0.49432	0.78	5.26	4.33	0.51752	.	0.051574	0.85682	D	0.000000	T	0.39009	0.1062	L	0.39147	1.195	0.36385	D	0.862161	B	0.24483	0.104	B	0.22386	0.039	T	0.49360	-0.8948	10	0.59425	D	0.04	-19.6441	12.1354	0.53968	0.0:0.8432:0.0:0.1568	.	657	O75164	KDM4A_HUMAN	L	657	ENSP00000361473:F657L	ENSP00000361473:F657L	F	+	3	2	KDM4A	43927287	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.200000	0.32247	2.608000	0.88229	0.563000	0.77884	TTC		0.547	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
SLC6A9	6536	broad.mit.edu	37	1	44476409	44476409	+	Missense_Mutation	SNP	C	C	T	rs200036856		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:44476409C>T	ENST00000360584.2	-	3	586	c.395G>A	c.(394-396)cGc>cAc	p.R132H	SLC6A9_ENST00000372306.3_Missense_Mutation_p.R59H|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372310.3_Missense_Mutation_p.R59H|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000357730.2_Missense_Mutation_p.R78H|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	132					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R132H(1)|p.R59H(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCCCGTTGCGATAGCAGAG	0.647																																					p.R132H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G395A	1						.						127.0	104.0	112.0					1																	44476409		2203	4300	6503	44248996	SO:0001583	missense	6536	exon3			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.395G>A	1.37:g.44476409C>T	ENSP00000353791:p.Arg132His		44248996	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	ENST00000360584.2	37	CCDS41317.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142728	0.77888	.	.	ENSG00000196517	ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000528803;ENST00000466926	T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.65498	2.005	0.80722	D	1	P;P;P;D	0.89917	0.94;0.926;0.926;1.0	P;B;B;D	0.87578	0.583;0.305;0.305;0.998	D	0.86389	0.1734	10	0.72032	D	0.01	.	17.3604	0.87348	0.0:1.0:0.0:0.0	.	59;59;78;132	B7Z8W5;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	H	59;59;132;78;78;113	ENSP00000361380:R59H;ENSP00000361384:R59H;ENSP00000353791:R132H;ENSP00000350362:R78H;ENSP00000435652:R78H;ENSP00000433241:R113H	ENSP00000350362:R78H	R	-	2	0	SLC6A9	44248996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.664000	0.37439	2.623000	0.88846	0.591000	0.81541	CGC		0.647	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
KIF2C	11004	broad.mit.edu	37	1	45213068	45213068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:45213068G>T	ENST00000372224.4	+	3	291	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	KIF2C_ENST00000372222.3_5'UTR|KIF2C_ENST00000372217.1_Missense_Mutation_p.D6Y|KIF2C_ENST00000372218.4_Missense_Mutation_p.D60Y|KIF2C_ENST00000493027.1_3'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	60	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|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)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.D60Y(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGATTTTGATGATGTGGCTGC	0.368																																					p.D60Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178T	1						.						120.0	118.0	119.0					1																	45213068		2203	4300	6503	44985655	SO:0001583	missense	11004	exon3			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.178G>T	1.37:g.45213068G>T	ENSP00000361298:p.Asp60Tyr		44985655	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.418030	0.83449	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.77229	1.13;-0.89;-0.73;0.9;-1.08	6.07	6.07	0.98685	.	0.051734	0.85682	D	0.000000	D	0.85115	0.5623	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.958;1.0;0.979	P;D;P	0.91635	0.629;0.999;0.76	D	0.84937	0.0863	10	0.62326	D	0.03	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	60;6;60	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	Y	60;60;60;51;6	ENSP00000410346:D60Y;ENSP00000361298:D60Y;ENSP00000361292:D60Y;ENSP00000395050:D51Y;ENSP00000361291:D6Y	ENSP00000361291:D6Y	D	+	1	0	KIF2C	44985655	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.999000	0.70665	2.884000	0.98904	0.655000	0.94253	GAT		0.368	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
IPP	3652	broad.mit.edu	37	1	46180131	46180131	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:46180131A>C	ENST00000396478.3	-	8	1419	c.1317T>G	c.(1315-1317)atT>atG	p.I439M	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	439						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.I439M(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CAATTACATAAATTAAACCTG	0.373																																					p.I439M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1317G	1						.						43.0	39.0	41.0					1																	46180131		2203	4300	6503	45952719	SO:0001583	missense	3652	exon8			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1317T>G	1.37:g.46180131A>C	ENSP00000379739:p.Ile439Met		45952719	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.922514	0.52653	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	D;D	0.85171	-1.95;-1.95	4.92	2.11	0.27256	Galactose oxidase, beta-propeller (1);	0.047715	0.85682	D	0.000000	D	0.88782	0.6530	M	0.69823	2.125	0.53688	D	0.999978	P;D	0.64830	0.639;0.994	P;D	0.65233	0.524;0.933	D	0.87035	0.2137	10	0.66056	D	0.02	.	7.2896	0.26358	0.7837:0.0:0.0838:0.1324	.	439;439	Q9Y573;A2A6V3	IPP_HUMAN;.	M	439	ENSP00000353024:I439M;ENSP00000379739:I439M	ENSP00000353024:I439M	I	-	3	3	IPP	45952719	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.706000	0.25690	0.665000	0.31066	0.454000	0.30748	ATT		0.373	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:46206618G>A	ENST00000396478.3	-	3	781	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	227						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.R227*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353																																					p.R227X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C679T	1						.						170.0	168.0	168.0					1																	46206618		2203	4300	6503	45979205	SO:0001587	stop_gained	3652	exon3			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.679C>T	1.37:g.46206618G>A	ENSP00000379739:p.Arg227*		45979205	NM_005897	A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597542	0.96602	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.17	4.2	0.49525	.	0.249248	0.41194	D	0.000931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3396	0.66617	0.0:0.0:0.7561:0.2439	.	.	.	.	X	227	.	ENSP00000353024:R227X	R	-	1	2	IPP	45979205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.577000	0.86979	0.643000	0.83706	CGA		0.353	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897	
CYP4Z1	199974	broad.mit.edu	37	1	47583600	47583600	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:47583600T>G	ENST00000334194.3	+	12	1515	c.1512T>G	c.(1510-1512)gtT>gtG	p.V504V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	504						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V504V(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CAAAAAAAGTTTGCTAATTTT	0.373																																					p.V504V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1512G	1						.						50.0	45.0	47.0					1																	47583600		2203	4300	6503	47356187	SO:0001819	synonymous_variant	199974	exon12			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1512T>G	1.37:g.47583600T>G			47356187	NM_178134	Q5VVE4	Silent	SNP	ENST00000334194.3	37	CCDS545.1																																																																																				0.373	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	
TTC39A	22996	broad.mit.edu	37	1	51774955	51774955	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:51774955G>T	ENST00000447632.2	-	6	622	c.574C>A	c.(574-576)Cga>Aga	p.R192R	TTC39A_ENST00000262676.5_Silent_p.R188R|TTC39A_ENST00000451380.1_Silent_p.R156R|TTC39A_ENST00000371750.5_Silent_p.R157R|TTC39A_ENST00000413473.2_Silent_p.R160R|TTC39A_ENST00000262675.7_Silent_p.R129R|TTC39A_ENST00000371747.3_Silent_p.R191R			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	192								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TAGCTGTTTCGAACTTTGATG	0.602																																					p.R160R												.	.	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)	c.C478A	1						.						142.0	146.0	145.0					1																	51774955		2038	4196	6234	51547543	SO:0001819	synonymous_variant	22996	exon6			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.574C>A	1.37:g.51774955G>T			51547543	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	ENST00000447632.2	37																																																																																					0.602	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		
EPS15	2060	broad.mit.edu	37	1	51934222	51934222	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:51934222G>A	ENST00000371733.3	-	5	328	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	EPS15_ENST00000371730.2_Missense_Mutation_p.R78C	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	78	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.R78C(1)|p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GCCACAAGACGCAAAGCAACA	0.368			T	MLL	ALL																																p.R78C			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|central_nervous_system(1)	c.C232T	1						.						65.0	62.0	63.0					1																	51934222		2203	4300	6503	51706810	SO:0001583	missense	2060	exon5			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.232C>T	1.37:g.51934222G>A	ENSP00000360798:p.Arg78Cys		51706810	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715128	0.68844	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.39056	1.1;1.1	4.76	2.74	0.32292	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.49932	0.1586	M	0.86805	2.84	0.80722	D	1	B;D	0.60160	0.019;0.987	B;P	0.45610	0.008;0.487	T	0.60791	-0.7193	9	0.87932	D	0	.	9.1397	0.36897	0.0836:0.0:0.7701:0.1462	.	78;78	B1AUU8;P42566	.;EPS15_HUMAN	C	78	ENSP00000360795:R78C;ENSP00000360798:R78C	ENSP00000360792:R78C	R	-	1	0	EPS15	51706810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.500000	0.53318	1.356000	0.45884	0.650000	0.86243	CGT		0.368	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
ZFYVE9	9372	broad.mit.edu	37	1	52704080	52704080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:52704080G>T	ENST00000371591.1	+	3	1122	c.991G>T	c.(991-993)Gaa>Taa	p.E331*	ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E331*|ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.E331*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	331					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.E331*(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						CACCACTGAAGAATCCCTCCG	0.483																																					p.E331X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G991T	1						.						89.0	87.0	87.0					1																	52704080		2203	4300	6503	52476668	SO:0001587	stop_gained	9372	exon4			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.991G>T	1.37:g.52704080G>T	ENSP00000360647:p.Glu331*		52476668	NM_007324	Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647439	0.87958	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	.	.	.	4.75	3.84	0.44239	.	0.464350	0.19156	N	0.121333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.207	0.25913	0.0952:0.2275:0.6773:0.0	.	.	.	.	X	331	.	ENSP00000287727:E331X	E	+	1	0	ZFYVE9	52476668	0.998000	0.40836	0.985000	0.45067	0.925000	0.55904	2.176000	0.42500	1.228000	0.43614	0.563000	0.77884	GAA		0.483	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
C8A	731	broad.mit.edu	37	1	57373668	57373668	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:57373668C>A	ENST00000361249.3	+	9	1358	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	421	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|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)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.S421Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GACATTATTTCTCGGGTGCGA	0.507																																					p.S421Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1262A	1						.						129.0	122.0	124.0					1																	57373668		2203	4300	6503	57146256	SO:0001583	missense	731	exon9			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1262C>A	1.37:g.57373668C>A	ENSP00000354458:p.Ser421Tyr		57146256	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638448	0.67130	.	.	ENSG00000157131	ENST00000361249	D	0.84516	-1.86	6.03	5.13	0.70059	Membrane attack complex component/perforin (MACPF) domain (3);	0.537705	0.21967	N	0.066520	D	0.92341	0.7570	M	0.89414	3.03	0.32397	N	0.552456	D	0.67145	0.996	D	0.66196	0.942	D	0.94156	0.7410	10	0.66056	D	0.02	-3.8118	11.4633	0.50223	0.0:0.8578:0.0:0.1422	.	421	P07357	CO8A_HUMAN	Y	421	ENSP00000354458:S421Y	ENSP00000354458:S421Y	S	+	2	0	C8A	57146256	0.030000	0.19436	0.960000	0.40013	0.920000	0.55202	1.629000	0.37071	1.568000	0.49683	0.557000	0.71058	TCT		0.507	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
DAB1	1600	broad.mit.edu	37	1	57535047	57535047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:57535047C>A	ENST00000371231.1	-	7	683	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Nonsense_Mutation_p.E217*|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Nonsense_Mutation_p.E217*|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	217					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.E217*(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						TAAATGTTTTCTTCCGTTTCG	0.418																																					p.E217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G649T	1						.						161.0	146.0	151.0					1																	57535047		2203	4300	6503	57307635	SO:0001587	stop_gained	1600	exon10			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.649G>T	1.37:g.57535047C>A	ENSP00000360275:p.Glu217*		57307635	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Nonsense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	43	10.273817	0.99373	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-19.3361	17.8246	0.88661	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000360275:E217X	E	-	1	0	DAB1	57307635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.882000	0.98803	0.655000	0.94253	GAA		0.418	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
NFIA	4774	broad.mit.edu	37	1	61553986	61553986	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:61553986C>A	ENST00000403491.3	+	2	677	c.193C>A	c.(193-195)Cca>Aca	p.P65T	NFIA_ENST00000407417.3_Missense_Mutation_p.P57T|NFIA_ENST00000371189.4_Missense_Mutation_p.P110T|NFIA_ENST00000479364.1_Intron|NFIA_ENST00000485903.2_Missense_Mutation_p.P65T|NFIA_ENST00000371184.2_Missense_Mutation_p.P65T|NFIA_ENST00000371187.3_Missense_Mutation_p.P65T|NFIA_ENST00000371191.1_Missense_Mutation_p.P88T|NFIA_ENST00000371185.2_Missense_Mutation_p.P65T	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	65					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P65T(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AAGTGAAAAACCAGAGGTCAA	0.433																																					p.P110T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C328A	1						.						86.0	91.0	89.0					1																	61553986		2203	4300	6503	61326574	SO:0001583	missense	4774	exon3			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.193C>A	1.37:g.61553986C>A	ENSP00000384523:p.Pro65Thr		61326574	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326627	0.60743	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T;T	0.46451	0.9;0.9;0.87;0.9;0.93;0.93;0.96;0.89	6.07	5.15	0.70609	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34308	0.0893	N	0.20685	0.6	0.58432	D	0.999997	B;P;P;P	0.38504	0.001;0.634;0.634;0.504	B;B;B;B	0.39562	0.004;0.16;0.16;0.303	T	0.28586	-1.0039	10	0.72032	D	0.01	-8.6901	16.809	0.85713	0.13:0.87:0.0:0.0	.	110;88;65;65	F8W8W3;B1AKN8;Q12857;Q12857-2	.;.;NFIA_HUMAN;.	T	88;57;110;65;65;65;65;65	ENSP00000360233:P88T;ENSP00000384680:P57T;ENSP00000360231:P110T;ENSP00000384523:P65T;ENSP00000419785:P65T;ENSP00000360227:P65T;ENSP00000360226:P65T;ENSP00000360229:P65T	ENSP00000360226:P65T	P	+	1	0	NFIA	61326574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.833000	0.55790	1.570000	0.49709	0.650000	0.86243	CCA		0.433	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
USP1	7398	broad.mit.edu	37	1	62915976	62915976	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:62915976A>C	ENST00000339950.4	+	9	2497	c.1682A>C	c.(1681-1683)aAa>aCa	p.K561T	USP1_ENST00000371146.1_Missense_Mutation_p.K561T	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	561	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		ACACCTCTTAAATTGTCACTA	0.393																																					p.K561T	Ovarian(122;1846 2315 3982 19504)											.	.	0			c.A1682C	1						.						117.0	107.0	111.0					1																	62915976		2203	4300	6503	62688564	SO:0001583	missense	7398	exon9				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1682A>C	1.37:g.62915976A>C	ENSP00000343526:p.Lys561Thr		62688564	NM_001017416	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	2.798	-0.249768	0.05867	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.29655	1.56;1.56	5.65	4.51	0.55191	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.158796	0.56097	D	0.000029	T	0.15305	0.0369	N	0.13235	0.315	0.35929	D	0.832355	B	0.25850	0.136	B	0.21151	0.033	T	0.17806	-1.0357	10	0.13108	T	0.6	-24.7314	8.8811	0.35376	0.8055:0.1278:0.0666:0.0	.	561	O94782	UBP1_HUMAN	T	561	ENSP00000360188:K561T;ENSP00000343526:K561T	ENSP00000343526:K561T	K	+	2	0	USP1	62688564	0.850000	0.29656	0.714000	0.30535	0.835000	0.47333	2.364000	0.44187	1.132000	0.42129	0.533000	0.62120	AAA		0.393	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415	
ATG4C	84938	broad.mit.edu	37	1	63329799	63329799	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:63329799G>T	ENST00000317868.4	+	11	1553	c.1346G>T	c.(1345-1347)aGa>aTa	p.R449I	ATG4C_ENST00000371120.3_Missense_Mutation_p.R449I	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	449					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.R449T(2)|p.R449I(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						CAATTAAAAAGATTTAGCACG	0.313																																					p.R449I												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G1346T	1						.						52.0	56.0	55.0					1																	63329799		2198	4292	6490	63102387	SO:0001583	missense	84938	exon11			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1346G>T	1.37:g.63329799G>T	ENSP00000322159:p.Arg449Ile		63102387	NM_178221	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827168	0.71143	.	.	ENSG00000125703	ENST00000317868;ENST00000371120	.	.	.	5.22	4.29	0.51040	.	0.106741	0.64402	D	0.000009	T	0.64382	0.2593	M	0.71581	2.175	0.52501	D	0.999959	P	0.51147	0.942	P	0.55260	0.772	T	0.67181	-0.5735	9	0.44086	T	0.13	-23.8665	14.8806	0.70531	0.0:0.0:0.8552:0.1448	.	449	Q96DT6	ATG4C_HUMAN	I	449	.	ENSP00000322159:R449I	R	+	2	0	ATG4C	63102387	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	5.109000	0.64615	1.148000	0.42385	0.585000	0.79938	AGA		0.313	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
PGM1	5236	broad.mit.edu	37	1	64120081	64120081	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:64120081C>T	ENST00000371084.3	+	10	1756	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371083.4_Missense_Mutation_p.R533W|RN7SL130P_ENST00000489463.2_RNA|PGM1_ENST00000540265.1_Missense_Mutation_p.R318W	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	515					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)	p.R515W(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCCACCATTCGGCTGTACAT	0.537																																					p.R533W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1597T	1						.						94.0	89.0	90.0					1																	64120081		2203	4300	6503	63892669	SO:0001583	missense	5236	exon10			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1543C>T	1.37:g.64120081C>T	ENSP00000360125:p.Arg515Trp		63892669	NM_001172818	B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	ENST00000371084.3	37	CCDS625.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200808	0.38905	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.63913	-0.07;-0.07;-0.07	5.45	3.56	0.40772	Alpha-D-phosphohexomutase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	H	0.97340	3.985	0.30534	N	0.767131	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77755	-0.2469	10	0.87932	D	0	-28.3353	8.4318	0.32761	0.2754:0.6545:0.0:0.07	.	533;515	P36871-2;P36871	.;PGM1_HUMAN	W	491;515;318;533	ENSP00000360125:R515W;ENSP00000443449:R318W;ENSP00000360124:R533W	ENSP00000360124:R533W	R	+	1	2	PGM1	63892669	0.971000	0.33674	0.008000	0.14137	0.038000	0.13279	2.091000	0.41691	0.768000	0.33290	-0.251000	0.11542	CGG		0.537	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633	
ROR1	4919	broad.mit.edu	37	1	64643731	64643731	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:64643731C>A	ENST00000371079.1	+	9	2382	c.2007C>A	c.(2005-2007)ttC>ttA	p.F669L	ROR1_ENST00000545203.1_Missense_Mutation_p.F120L	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.F669L(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						ATGGCAAATTCTCTTCTGATT	0.453																																					p.F669L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2007A	1						.						81.0	80.0	81.0					1																	64643731		2203	4300	6503	64416319	SO:0001583	missense	4919	exon9			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.2007C>A	1.37:g.64643731C>A	ENSP00000360120:p.Phe669Leu		64416319	NM_005012	Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749579	0.69533	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.61510	0.1;0.1	5.98	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000366	T	0.67439	0.2893	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.73483	-0.3968	10	0.87932	D	0	.	15.2072	0.73190	0.0:0.9327:0.0:0.0673	.	669	Q01973	ROR1_HUMAN	L	669;672;120	ENSP00000360120:F669L;ENSP00000441637:F120L	ENSP00000360120:F669L	F	+	3	2	ROR1	64416319	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.660000	0.46749	1.551000	0.49450	0.591000	0.81541	TTC		0.453	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	
CACHD1	57685	broad.mit.edu	37	1	65095040	65095040	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:65095040C>A	ENST00000371073.2	+	5	520	c.520C>A	c.(520-522)Ctt>Att	p.L174I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.L123I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	174					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.L123I(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCTCTAGTTCTTGCAGACAA	0.418																																					p.L123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C367A	1						.						142.0	129.0	133.0					1																	65095040		1886	4123	6009	64867628	SO:0001583	missense	57685	exon5			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.520C>A	1.37:g.65095040C>A	ENSP00000360113:p.Leu174Ile		64867628	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	18.00	3.525345	0.64747	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24350	1.86;1.86	5.75	5.75	0.90469	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	N	0.08118	0	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.35001	-0.9806	10	0.48119	T	0.1	-15.1127	19.9598	0.97242	0.0:1.0:0.0:0.0	.	174	Q5VU97	CAHD1_HUMAN	I	174;123	ENSP00000360113:L174I;ENSP00000290039:L123I	ENSP00000290039:L123I	L	+	1	0	CACHD1	64867628	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.438000	0.59961	2.716000	0.92895	0.655000	0.94253	CTT		0.418	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
CACHD1	57685	broad.mit.edu	37	1	65130183	65130183	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:65130183C>A	ENST00000371073.2	+	15	2097	c.2097C>A	c.(2095-2097)ttC>ttA	p.F699L	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.F648L			Q5VU97	CAHD1_HUMAN	cache domain containing 1	699					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.F648L(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTTCCCAGTTCTCTGTCAGAA	0.458																																					p.F648L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1944A	1						.						98.0	90.0	93.0					1																	65130183		2203	4300	6503	64902771	SO:0001583	missense	57685	exon15			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.2097C>A	1.37:g.65130183C>A	ENSP00000360113:p.Phe699Leu		64902771	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	15.20	2.763915	0.49574	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21031	2.03;2.04	6.17	6.17	0.99709	.	0.088408	0.85682	D	0.000000	T	0.04407	0.0121	N	0.03608	-0.345	0.48762	D	0.999707	B	0.14012	0.009	B	0.11329	0.006	T	0.38023	-0.9680	10	0.23891	T	0.37	-31.8356	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	699	Q5VU97	CAHD1_HUMAN	L	699;648	ENSP00000360113:F699L;ENSP00000290039:F648L	ENSP00000290039:F648L	F	+	3	2	CACHD1	64902771	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.801000	0.27055	2.941000	0.99782	0.655000	0.94253	TTC		0.458	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
LEPR	3953	broad.mit.edu	37	1	66102431	66102431	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:66102431C>A	ENST00000349533.6	+	20	3416	c.3231C>A	c.(3229-3231)atC>atA	p.I1077I	LEPR_ENST00000406510.3_Silent_p.I144I	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.I1077I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAAAGTCTATCTATTATTTAG	0.398																																					p.I1077I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3231A	1						.						64.0	72.0	69.0					1																	66102431		2203	4300	6503	65875019	SO:0001819	synonymous_variant	3953	exon20			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3231C>A	1.37:g.66102431C>A			65875019	NM_002303	Q6FHL5	Silent	SNP	ENST00000349533.6	37	CCDS631.1																																																																																				0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
IL23R	149233	broad.mit.edu	37	1	67724183	67724183	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:67724183A>G	ENST00000347310.5	+	11	1433	c.1262A>G	c.(1261-1263)aAt>aGt	p.N421S	IL23R_ENST00000395227.1_Missense_Mutation_p.N166S|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	421					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.N421S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTTATGAATAATAATTCCAGT	0.328																																					p.N421S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1262G	1						.						92.0	110.0	104.0					1																	67724183		2201	4299	6500	67496771	SO:0001583	missense	149233	exon11			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1262A>G	1.37:g.67724183A>G	ENSP00000321345:p.Asn421Ser		67496771	NM_144701	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.587|9.587	1.125022|1.125022	0.20959|0.20959	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000425614|ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227	.|T;T	.|0.32023	.|1.47;1.55	6.07|6.07	-2.47|-2.47	0.06442|0.06442	.|.	.|0.750787	.|0.13621	.|N	.|0.374417	T|T	0.06690|0.06690	0.0171|0.0171	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B	.|0.13145	.|0.001;0.001;0.002;0.001;0.001;0.001;0.007	.|B;B;B;B;B;B;B	.|0.10450	.|0.004;0.005;0.004;0.004;0.004;0.004;0.005	T|T	0.41448|0.41448	-0.9508|-0.9508	5|10	.|0.17832	.|T	.|0.49	.|.	6.9958|6.9958	0.24782|0.24782	0.4389:0.1344:0.4266:0.0|0.4389:0.1344:0.4266:0.0	.|.	.|167;245;56;179;19;166;421	.|Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.|.;.;.;.;.;.;IL23R_HUMAN	V|S	183|421;250;179;166	.|ENSP00000321345:N421S;ENSP00000378652:N166S	.|ENSP00000321345:N421S	I|N	+|+	1|2	0|0	IL23R|IL23R	67496771|67496771	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.641000|0.641000	0.38312|0.38312	0.187000|0.187000	0.16998|0.16998	-0.381000|-0.381000	0.07882|0.07882	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.328	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
IL12RB2	3595	broad.mit.edu	37	1	67792444	67792444	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:67792444T>C	ENST00000262345.1	+	4	1031	c.391T>C	c.(391-393)Tcc>Ccc	p.S131P	IL12RB2_ENST00000541374.1_Missense_Mutation_p.S131P|IL12RB2_ENST00000371000.1_Missense_Mutation_p.S131P|IL12RB2_ENST00000544434.1_Missense_Mutation_p.S131P	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	131	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.S131P(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						TCAAAATTTATCCTGCATACA	0.423																																					p.S131P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T391C	1						.						88.0	86.0	86.0					1																	67792444		2203	4300	6503	67565032	SO:0001583	missense	3595	exon4			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.391T>C	1.37:g.67792444T>C	ENSP00000262345:p.Ser131Pro		67565032	NM_001559	B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	CCDS638.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.890873	0.33348	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.89	3.49	0.39957	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.323797	0.38548	N	0.001649	T	0.31702	0.0805	M	0.85197	2.74	0.24486	N	0.994326	D;D;D;D	0.89917	0.996;1.0;0.998;0.997	D;D;D;D	0.74674	0.914;0.984;0.929;0.952	T	0.25152	-1.0140	10	0.87932	D	0	-15.3746	8.5028	0.33168	0.3108:0.0:0.0:0.6892	.	131;131;131;131	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	P	131	ENSP00000262345:S131P;ENSP00000360039:S131P;ENSP00000445276:S131P;ENSP00000442443:S131P	ENSP00000262345:S131P	S	+	1	0	IL12RB2	67565032	0.992000	0.36948	0.024000	0.17045	0.122000	0.20287	1.784000	0.38674	0.438000	0.26450	0.460000	0.39030	TCC		0.423	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559	
LRRC7	57554	broad.mit.edu	37	1	70504011	70504011	+	Missense_Mutation	SNP	C	C	T	rs372385321		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:70504011C>T	ENST00000035383.5	+	19	2420	c.2390C>T	c.(2389-2391)tCg>tTg	p.S797L	LRRC7_ENST00000310961.5_Missense_Mutation_p.S802L|LRRC7_ENST00000415775.2_Missense_Mutation_p.S81L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	797						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.S797L(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						CTCTTAAGTTCGAAATCTAGA	0.488																																					p.S797L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2390T	1						.	C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	140.0	121.0	127.0		2390	5.5	0.1	1		127	0,8600		0,0,4300	no	missense	LRRC7	NM_020794.2	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	797/1538	70504011	2,13004	2203	4300	6503	70276599	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.2390C>T	1.37:g.70504011C>T	ENSP00000035383:p.Ser797Leu		70276599	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124180	0.56613	4.54E-4	0.0	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.49432	0.78;0.87;1.95	5.53	5.53	0.82687	.	0.122413	0.56097	D	0.000027	T	0.29850	0.0746	L	0.40543	1.245	0.50813	D	0.999899	P;P;P	0.45240	0.579;0.854;0.772	B;B;B	0.37144	0.104;0.242;0.122	T	0.29458	-1.0011	10	0.66056	D	0.02	.	18.4553	0.90718	0.0:1.0:0.0:0.0	.	81;797;797	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	L	802;797;81;620	ENSP00000309245:S802L;ENSP00000035383:S797L;ENSP00000394867:S81L	ENSP00000035383:S797L	S	+	2	0	LRRC7	70276599	1.000000	0.71417	0.085000	0.20634	0.889000	0.51656	7.434000	0.80377	2.614000	0.88457	0.467000	0.42956	TCG		0.488	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRIQ3	127255	broad.mit.edu	37	1	74507110	74507110	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:74507110G>T	ENST00000395089.1	-	6	1504	c.1505C>A	c.(1504-1506)gCt>gAt	p.A502D	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.A502D			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	502								p.A502D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGAAACAGAGCTTTTCTCTC	0.328																																					p.A502D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505A	1						.						108.0	105.0	106.0					1																	74507110		1796	4069	5865	74279698	SO:0001583	missense	127255	exon7			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1505C>A	1.37:g.74507110G>T	ENSP00000378524:p.Ala502Asp		74279698	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	4.236	0.042801	0.08196	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08634	3.07;3.07	5.86	-2.45	0.06481	.	1.942970	0.02466	N	0.087099	T	0.01489	0.0048	L	0.29908	0.895	0.09310	N	1	P	0.34462	0.454	B	0.30251	0.113	T	0.37709	-0.9694	10	0.34782	T	0.22	.	1.529	0.02531	0.278:0.2344:0.3676:0.12	.	502	A6PVS8	LRIQ3_HUMAN	D	502	ENSP00000378524:A502D;ENSP00000346414:A502D	ENSP00000346414:A502D	A	-	2	0	LRRIQ3	74279698	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.077000	0.11394	-0.628000	0.05582	-0.145000	0.13849	GCT		0.328	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
LRRIQ3	127255	broad.mit.edu	37	1	74575237	74575237	+	Splice_Site	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:74575237G>A	ENST00000395089.1	-	4	707	c.708C>T	c.(706-708)agC>agT	p.S236S	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Splice_Site_p.S236S|LRRIQ3_ENST00000370909.2_Splice_Site_p.S128S			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	236	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.							p.S236S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAACACAGGGCTGAATATAA	0.313																																					p.S236S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C708T	1						.						101.0	86.0	90.0					1																	74575237		1785	4051	5836	74347825	SO:0001630	splice_region_variant	127255	exon5			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.708-1C>T	1.37:g.74575237G>A			74347825	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	CCDS41350.1																																																																																				0.313	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	Silent
LRRIQ3	127255	broad.mit.edu	37	1	74648456	74648456	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:74648456C>A	ENST00000395089.1	-	2	338	c.339G>T	c.(337-339)aaG>aaT	p.K113N	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.K113N|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K113N|LRRIQ3_ENST00000370909.2_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	113								p.K113N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CACATATATTCTTTAACTTTG	0.333																																					p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	1						.						77.0	74.0	75.0					1																	74648456		2203	4299	6502	74421044	SO:0001583	missense	127255	exon3			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.339G>T	1.37:g.74648456C>A	ENSP00000378524:p.Lys113Asn		74421044	NM_001105659	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066138	0.55539	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000388972;ENST00000370911	T;T;T	0.09911	2.93;2.93;2.93	5.65	3.71	0.42584	.	0.158626	0.42420	D	0.000702	T	0.09774	0.0240	L	0.44542	1.39	0.31549	N	0.658984	D	0.64830	0.994	P	0.60286	0.872	T	0.05194	-1.0900	10	0.44086	T	0.13	.	10.5169	0.44896	0.0:0.8318:0.0:0.1682	.	113	A6PVS8	LRIQ3_HUMAN	N	113	ENSP00000378524:K113N;ENSP00000346414:K113N;ENSP00000359948:K113N	ENSP00000346414:K113N	K	-	3	2	LRRIQ3	74421044	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	1.621000	0.36986	0.666000	0.31087	-0.355000	0.07637	AAG		0.333	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74716360	74716360	+	Missense_Mutation	SNP	G	G	T	rs200196531		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:74716360G>T	ENST00000370899.3	+	6	580	c.543G>T	c.(541-543)aaG>aaT	p.K181N	TNNI3K_ENST00000326637.3_Missense_Mutation_p.K80N|TNNI3K_ENST00000370891.2_Missense_Mutation_p.K181N|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.K194N|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.K181N	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.K80N(1)									TTTAAGGCAAGAAATCACATA	0.393																																					p.K181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G543T	1						.						119.0	107.0	111.0					1																	74716360		2203	4300	6503	74488948	SO:0001583	missense	51086	exon6					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.543G>T	1.37:g.74716360G>T	ENSP00000359936:p.Lys181Asn		74488948	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	G	0.101	-1.151986	0.01700	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.65	0.25	0.15535	Ankyrin repeat-containing domain (3);	0.281067	0.38272	N	0.001745	T	0.00998	0.0033	N	0.01576	-0.805	0.21147	N	0.999776	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43475	-0.9389	10	0.07030	T	0.85	.	5.5077	0.16864	0.0:0.4501:0.2491:0.3009	.	80;181;181;181	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	N	181;181;181;181;80	ENSP00000359936:K181N;ENSP00000359932:K181N;ENSP00000450895:K181N;ENSP00000359928:K181N;ENSP00000322251:K80N	ENSP00000322251:K80N	K	+	3	2	RP11-653A5.2;AC093158.1	74488948	0.999000	0.42202	0.997000	0.53966	0.486000	0.33341	0.593000	0.23999	0.007000	0.14760	-0.197000	0.12766	AAG		0.393	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
ERICH3	127254	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:75038471G>T	ENST00000326665.5	-	14	3141	c.2923C>A	c.(2923-2925)Ctt>Att	p.L975I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		975	Glu-rich.							p.L975I(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						TCTCCCCCAAGAATTGCCTCT	0.522																																					p.L975I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2923A	1						.						128.0	118.0	121.0					1																	75038471		2203	4300	6503	74811059	SO:0001583	missense	127254	exon14																														ENST00000326665.5:c.2923C>A	1.37:g.75038471G>T	ENSP00000322609:p.Leu975Ile		74811059	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	g	13.40	2.225270	0.39300	.	.	ENSG00000178965	ENST00000326665	T	0.18174	2.23	4.65	-0.235	0.13071	.	.	.	.	.	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	P	0.46784	0.884	B	0.43658	0.426	T	0.23154	-1.0196	9	0.32370	T	0.25	0.2926	0.2928	0.00261	0.3139:0.229:0.2654:0.1916	.	975	Q5RHP9	CA173_HUMAN	I	975	ENSP00000322609:L975I	ENSP00000322609:L975I	L	-	1	0	C1orf173	74811059	0.000000	0.05858	0.000000	0.03702	0.439000	0.31926	-1.235000	0.02928	0.064000	0.16427	-0.358000	0.07595	CTT		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75072551	75072551	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:75072551G>T	ENST00000326665.5	-	10	1441	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.S211Y	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		408								p.S408Y(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						TTTCGGCAAAGACGGTTTTTT	0.418																																					p.S408Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1223A	1						.						112.0	109.0	110.0					1																	75072551		2203	4299	6502	74845139	SO:0001583	missense	127254	exon10																														ENST00000326665.5:c.1223C>A	1.37:g.75072551G>T	ENSP00000322609:p.Ser408Tyr		74845139	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305044	0.60305	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.20463	2.53;2.07	5.14	3.23	0.37069	.	.	.	.	.	T	0.13415	0.0325	L	0.29908	0.895	0.33140	D	0.544193	P;D	0.53462	0.867;0.96	P;P	0.51918	0.509;0.684	T	0.02942	-1.1091	9	0.87932	D	0	-1.1162	11.9797	0.53113	0.1516:0.0:0.8484:0.0	.	211;408	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	Y	408;211	ENSP00000322609:S408Y;ENSP00000398581:S211Y	ENSP00000322609:S408Y	S	-	2	0	C1orf173	74845139	0.979000	0.34478	0.002000	0.10522	0.009000	0.06853	1.801000	0.38843	1.294000	0.44707	0.650000	0.86243	TCT		0.418	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-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:76198353T>G	ENST00000370841.4	+	3	580	c.143T>G	c.(142-144)tTt>tGt	p.F48C	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.F12C|ACADM_ENST00000420607.2_Missense_Mutation_p.F52C|ACADM_ENST00000370834.5_Missense_Mutation_p.F48C	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		
MSH4	4438	broad.mit.edu	37	1	76354993	76354993	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:76354993G>A	ENST00000263187.3	+	16	2269	c.2165G>A	c.(2164-2166)aGa>aAa	p.R722K		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	722					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.R722K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATTTTTACAAGAATTAGTACT	0.264								Mismatch excision repair (MMR)																													p.R722K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2165A	1						.						51.0	56.0	54.0					1																	76354993		2195	4267	6462	76127581	SO:0001583	missense	4438	exon16			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.2165G>A	1.37:g.76354993G>A	ENSP00000263187:p.Arg722Lys		76127581	NM_002440	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945437	0.92593	.	.	ENSG00000057468	ENST00000263187	D	0.92446	-3.04	5.31	5.31	0.75309	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	M	0.93638	3.44	0.51482	D	0.99992	D	0.56746	0.977	D	0.66084	0.941	D	0.97685	1.0175	10	0.87932	D	0	-19.4647	18.9808	0.92755	0.0:0.0:1.0:0.0	.	722	O15457	MSH4_HUMAN	K	722	ENSP00000263187:R722K	ENSP00000263187:R722K	R	+	2	0	MSH4	76127581	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.471000	0.97696	2.495000	0.84180	0.650000	0.86243	AGA		0.264	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	
USP33	23032	broad.mit.edu	37	1	78194258	78194258	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:78194258T>G	ENST00000370793.1	-	11	1296	c.950A>C	c.(949-951)gAt>gCt	p.D317A	USP33_ENST00000357428.1_Missense_Mutation_p.D317A|USP33_ENST00000370792.3_Missense_Mutation_p.D317A|USP33_ENST00000370794.3_Missense_Mutation_p.D286A	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	317	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D317A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AGACTGAAAATCTACATCCGA	0.373																																					p.D317A	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A950C	1						.						189.0	160.0	170.0					1																	78194258		2203	4300	6503	77966846	SO:0001583	missense	23032	exon11			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.950A>C	1.37:g.78194258T>G	ENSP00000359829:p.Asp317Ala		77966846	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476471	0.44044	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.09723	2.96;2.95;2.95;2.95	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.288882	0.26272	N	0.025328	T	0.04907	0.0132	L	0.44542	1.39	0.58432	D	0.999991	B;B;B	0.29341	0.078;0.234;0.242	B;B;B	0.39935	0.037;0.287;0.314	T	0.13872	-1.0493	10	0.07990	T	0.79	.	10.3329	0.43833	0.0:0.0838:0.0:0.9162	.	317;286;317	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	A	286;317;317;317	ENSP00000359830:D286A;ENSP00000359829:D317A;ENSP00000350009:D317A;ENSP00000359828:D317A	ENSP00000350009:D317A	D	-	2	0	USP33	77966846	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	4.572000	0.60886	2.146000	0.66826	0.482000	0.46254	GAT		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
PTGFR	5737	broad.mit.edu	37	1	78959224	78959224	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:78959224C>A	ENST00000370757.3	+	2	1033	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	PTGFR_ENST00000370756.3_Missense_Mutation_p.L266M|PTGFR_ENST00000370758.1_Missense_Mutation_p.L266M	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	266					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.L266M(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)	GAGCCCATTTCTGGTAAGAGC	0.413																																					p.L266M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C796A	1						.						36.0	34.0	35.0					1																	78959224		2203	4299	6502	78731812	SO:0001583	missense	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.796C>A	1.37:g.78959224C>A	ENSP00000359793:p.Leu266Met		78731812	NM_000959	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422338	0.62622	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.38240	1.15;1.15;1.15	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.50154	0.1599	L	0.53249	1.67	0.33664	D	0.610109	D;D	0.89917	0.983;1.0	D;D	0.91635	0.93;0.999	T	0.43163	-0.9408	10	0.46703	T	0.11	-8.9354	20.2246	0.98337	0.0:1.0:0.0:0.0	.	266;266	P43088;P43088-2	PF2R_HUMAN;.	M	266	ENSP00000359794:L266M;ENSP00000359793:L266M;ENSP00000359792:L266M	ENSP00000359792:L266M	L	+	1	2	PTGFR	78731812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.642000	0.61383	2.861000	0.98227	0.655000	0.94253	CTG		0.413	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
RPF1	80135	broad.mit.edu	37	1	84961647	84961647	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:84961647G>A	ENST00000370654.5	+	7	797	c.782G>A	c.(781-783)cGt>cAt	p.R261H	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	261	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.R261H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TCAATTGGACGTATGTTTGCA	0.388																																					p.R261H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G782A	1						.						112.0	103.0	106.0					1																	84961647		2203	4300	6503	84734235	SO:0001583	missense	80135	exon7			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.782G>A	1.37:g.84961647G>A	ENSP00000359688:p.Arg261His		84734235	NM_025065	Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	CCDS695.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572450	0.86542	.	.	ENSG00000117133	ENST00000370654	T	0.23552	1.9	5.96	3.01	0.34805	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26326	-1.0106	10	0.87932	D	0	-3.0259	8.8235	0.35041	0.128:0.0:0.7492:0.1227	.	261	Q9H9Y2	RPF1_HUMAN	H	261	ENSP00000359688:R261H	ENSP00000359688:R261H	R	+	2	0	RPF1	84734235	1.000000	0.71417	0.960000	0.40013	0.986000	0.74619	7.606000	0.82863	0.871000	0.35750	0.655000	0.94253	CGT		0.388	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	
MCOLN3	55283	broad.mit.edu	37	1	85488044	85488044	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:85488044T>G	ENST00000370589.2	-	10	1187	c.1135A>C	c.(1135-1137)Act>Cct	p.T379P	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Missense_Mutation_p.T323P	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	379					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.T379P(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATGGTAGAAGTCCCAAGAAGT	0.388																																					p.T379P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1135C	1						.						87.0	82.0	83.0					1																	85488044		2203	4300	6503	85260632	SO:0001583	missense	55283	exon10			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.1135A>C	1.37:g.85488044T>G	ENSP00000359621:p.Thr379Pro		85260632	NM_018298	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	CCDS701.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672028	0.88348	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.70282	-0.47;-0.47	5.73	5.73	0.89815	Polycystin cation channel, PKD1/PKD2 (1);	0.181563	0.64402	D	0.000016	T	0.81669	0.4871	M	0.84511	2.7	0.52099	D	0.999949	D;D	0.60160	0.984;0.987	P;D	0.65140	0.879;0.932	D	0.83894	0.0286	10	0.51188	T	0.08	-1.9227	16.0087	0.80380	0.0:0.0:0.0:1.0	.	323;379	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	P	379;379;323;323	ENSP00000359621:T379P;ENSP00000342698:T323P	ENSP00000304843:T379P	T	-	1	0	MCOLN3	85260632	1.000000	0.71417	0.712000	0.30502	0.860000	0.49131	5.913000	0.69957	2.174000	0.68829	0.528000	0.53228	ACT		0.388	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
WDR63	126820	broad.mit.edu	37	1	85547091	85547091	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:85547091T>G	ENST00000294664.6	+	4	458	c.278T>G	c.(277-279)aTt>aGt	p.I93S	WDR63_ENST00000370596.1_Missense_Mutation_p.I93S|WDR63_ENST00000326813.8_Missense_Mutation_p.I93S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	93								p.I93S(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)		GTCAAAAAAATTGTCCAGGTA	0.383																																					p.I93S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T278G	1						.						80.0	82.0	81.0					1																	85547091		2202	4300	6502	85319679	SO:0001583	missense	126820	exon4				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.278T>G	1.37:g.85547091T>G	ENSP00000294664:p.Ile93Ser		85319679	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496423	0.64186	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000528899	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.84	5.84	0.93424	.	0.637659	0.17010	N	0.190543	T	0.34600	0.0903	L	0.52364	1.645	0.45378	D	0.998366	B;B	0.25351	0.045;0.124	B;B	0.24155	0.032;0.051	T	0.14980	-1.0453	10	0.27785	T	0.31	-17.3174	16.2224	0.82265	0.0:0.0:0.0:1.0	.	93;93	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	S	93;93;93;80	ENSP00000359628:I93S;ENSP00000317463:I93S;ENSP00000294664:I93S;ENSP00000435102:I80S	ENSP00000294664:I93S	I	+	2	0	WDR63	85319679	0.991000	0.36638	0.020000	0.16555	0.875000	0.50365	4.619000	0.61218	2.236000	0.73375	0.528000	0.53228	ATT		0.383	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
ZNHIT6	54680	broad.mit.edu	37	1	86171989	86171989	+	Nonsense_Mutation	SNP	G	G	A	rs374783757		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:86171989G>A	ENST00000370574.3	-	3	905	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNHIT6_ENST00000431532.2_Nonsense_Mutation_p.R219*			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	258					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R258*(3)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTTTATCTCGAACTCCATTA	0.368																																					p.R219X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C655T	1						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	114.0	118.0		655,772	3.5	1.0	1		118	0,8600		0,0,4300	no	stop-gained,stop-gained	ZNHIT6	NM_001170670.1,NM_017953.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	219/432,258/471	86171989	1,13005	2203	4300	6503	85944577	SO:0001587	stop_gained	54680	exon4			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.772C>T	1.37:g.86171989G>A	ENSP00000359606:p.Arg258*		85944577	NM_001170670	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Nonsense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	38	6.752255	0.97813	2.27E-4	0.0	ENSG00000117174	ENST00000431532;ENST00000370574	.	.	.	5.43	3.49	0.39957	.	0.212842	0.37348	N	0.002123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1369	10.4817	0.44698	0.0:0.1126:0.569:0.3183	.	.	.	.	X	219;258	.	ENSP00000359606:R258X	R	-	1	2	ZNHIT6	85944577	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.807000	0.47955	0.729000	0.32403	0.650000	0.86243	CGA		0.368	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
COL24A1	255631	broad.mit.edu	37	1	86590892	86590892	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:86590892T>G	ENST00000370571.2	-	3	1493	c.1127A>C	c.(1126-1128)aAt>aCt	p.N376T	COL24A1_ENST00000436319.1_Missense_Mutation_p.N376T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	376					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.N376T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGTGTGATATTGTCAGACAT	0.368																																					p.N376T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1127C	1						.						156.0	139.0	144.0					1																	86590892		1919	4126	6045	86363480	SO:0001583	missense	255631	exon3			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1127A>C	1.37:g.86590892T>G	ENSP00000359603:p.Asn376Thr		86363480	NM_152890	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.539178	0.00942	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.18016	2.24;2.24	5.45	-0.0268	0.13929	.	0.000000	0.42420	D	0.000712	T	0.02455	0.0075	L	0.27053	0.805	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.12156	0.007;0.002	T	0.41627	-0.9498	10	0.31617	T	0.26	.	1.816	0.03100	0.3317:0.0711:0.2304:0.3669	.	376;376	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	376	ENSP00000359603:N376T;ENSP00000392531:N376T	ENSP00000359603:N376T	N	-	2	0	COL24A1	86363480	0.010000	0.17322	0.001000	0.08648	0.041000	0.13682	0.719000	0.25881	0.031000	0.15407	-0.460000	0.05396	AAT		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
ODF2L	57489	broad.mit.edu	37	1	86820227	86820227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:86820227C>A	ENST00000359242.3	-	16	2034	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	ODF2L_ENST00000317336.7_Nonsense_Mutation_p.E585*|ODF2L_ENST00000294678.2_Nonsense_Mutation_p.E569*|ODF2L_ENST00000394731.1_Nonsense_Mutation_p.E425*|ODF2L_ENST00000370566.3_Nonsense_Mutation_p.E503*|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000370567.1_Nonsense_Mutation_p.E556*	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	585						centrosome (GO:0005813)		p.E556*(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TGTCTTCCTTCTTCTAAAGCA	0.353																																					p.E569X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1705T	1						.						150.0	148.0	149.0					1																	86820227		2203	4300	6503	86592815	SO:0001587	stop_gained	57489	exon16				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1753G>T	1.37:g.86820227C>A	ENSP00000359600:p.Glu585*		86592815	NM_020729	A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Nonsense_Mutation	SNP	ENST00000359242.3	37	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.165600|8.165600	0.98686|0.98686	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000462648;ENST00000294678|ENST00000459999	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.192035|.	0.48767|.	D|.	0.000174|.	.|T	.|0.75496	.|0.3857	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72265	.|-0.4344	.|3	0.59425|.	D|.	0.04|.	-16.8375|-16.8375	19.545|19.545	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	533;503;585;432;585;556;425;92;569|351	.|.	ENSP00000294678:E569X|.	E|K	-|-	1|3	0|2	ODF2L|ODF2L	86592815|86592815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.555000|0.555000	0.35460|0.35460	5.996000|5.996000	0.70639|0.70639	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.353	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2		
CLCA1	1179	broad.mit.edu	37	1	86939207	86939207	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:86939207C>T	ENST00000234701.3	+	3	621	c.270C>T	c.(268-270)gaC>gaT	p.D90D	CLCA1_ENST00000394711.1_Silent_p.D90D			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	90	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.D90D(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)		CAAAGGCTGACTATGTGAGAC	0.348																																					p.D90D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C270T	1						.						60.0	61.0	61.0					1																	86939207		2203	4300	6503	86711795	SO:0001819	synonymous_variant	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.270C>T	1.37:g.86939207C>T			86711795	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.348	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA1	1179	broad.mit.edu	37	1	86960066	86960066	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:86960066T>G	ENST00000234701.3	+	12	2228	c.1877T>G	c.(1876-1878)gTc>gGc	p.V626G	CLCA1_ENST00000394711.1_Missense_Mutation_p.V626G			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	626					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.V626G(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)		AGGGCCAGTGTCACAGCCCTG	0.443																																					p.V626G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1877G	1						.						68.0	64.0	65.0					1																	86960066		2203	4300	6503	86732654	SO:0001583	missense	1179	exon11				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.1877T>G	1.37:g.86960066T>G	ENSP00000234701:p.Val626Gly		86732654	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.9|22.9	4.349961|4.349961	0.82132|0.82132	.|.	.|.	ENSG00000016490|ENSG00000016490	ENST00000539889|ENST00000234701;ENST00000394711	.|T;T	.|0.52754	.|0.65;0.65	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Domain of unknown function DUF1973 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.71082|0.71082	0.3298|0.3298	M|M	0.90977|0.90977	3.165|3.165	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79032|0.79032	-0.1969|-0.1969	6|10	0.72032|0.87932	D|D	0.01|0	-22.2277|-22.2277	16.0381|16.0381	0.80645|0.80645	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|626;389	.|A8K7I4;B4DUZ6	.|CLCA1_HUMAN;.	W|G	324|626	.|ENSP00000234701:V626G;ENSP00000378200:V626G	ENSP00000443173:C324W|ENSP00000234701:V626G	C|V	+|+	3|2	2|0	CLCA1|CLCA1	86732654|86732654	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.964000|0.964000	0.63967|0.63967	6.039000|6.039000	0.70972|0.70972	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TGT|GTC		0.443	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
GBP7	388646	broad.mit.edu	37	1	89598059	89598059	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:89598059A>C	ENST00000294671.2	-	11	1828	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	564						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F564V(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)		ATCTCTTTAAATCCTTCAGTA	0.338																																					p.F564V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1690G	1						.						78.0	78.0	78.0					1																	89598059		2203	4300	6503	89370647	SO:0001583	missense	388646	exon11			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.1690T>G	1.37:g.89598059A>C	ENSP00000294671:p.Phe564Val		89370647	NM_207398		Missense_Mutation	SNP	ENST00000294671.2	37	CCDS720.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306046	0.60305	.	.	ENSG00000213512	ENST00000294671	T	0.02837	4.14	4.18	4.18	0.49190	Guanylate-binding protein, C-terminal (3);	0.622631	0.15965	N	0.236078	T	0.10680	0.0261	H	0.94808	3.585	0.27159	N	0.961205	D	0.55800	0.973	D	0.64410	0.925	T	0.12889	-1.0530	10	0.66056	D	0.02	.	9.564	0.39387	1.0:0.0:0.0:0.0	.	564	Q8N8V2	GBP7_HUMAN	V	564	ENSP00000294671:F564V	ENSP00000294671:F564V	F	-	1	0	GBP7	89370647	0.387000	0.25188	0.122000	0.21767	0.007000	0.05969	1.377000	0.34317	1.746000	0.51805	0.460000	0.39030	TTT		0.338	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	
HFM1	164045	broad.mit.edu	37	1	91781472	91781472	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:91781472A>C	ENST00000370425.3	-	28	3138	c.3040T>G	c.(3040-3042)Ttt>Gtt	p.F1014V	HFM1_ENST00000370424.3_Missense_Mutation_p.F693V|HFM1_ENST00000294696.5_Missense_Mutation_p.F246V|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1014	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F1014V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGCTGTTCAAAATTTCTTAAT	0.303																																					p.F1014V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3040G	1						.						70.0	70.0	70.0					1																	91781472		2200	4298	6498	91554060	SO:0001583	missense	164045	exon28			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3040T>G	1.37:g.91781472A>C	ENSP00000359454:p.Phe1014Val		91554060	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.31|11.31	1.602222|1.602222	0.28534|0.28534	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.59906|.	0.23;0.23;0.23|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Sec63 domain (2);|.	0.238496|.	0.38720|.	N|.	0.001588|.	T|T	0.61413|0.61413	0.2345|0.2345	L|L	0.59436|0.59436	1.845|1.845	0.41952|0.41952	D|D	0.990665|0.990665	P;D;P|.	0.55172|.	0.868;0.97;0.889|.	B;P;P|.	0.54965|.	0.4;0.765;0.534|.	T|T	0.62310|0.62310	-0.6881|-0.6881	10|5	0.25106|.	T|.	0.35|.	.|.	15.1412|15.1412	0.72612|0.72612	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	693;225;1014|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	V|M	1014;246;693;698|225	ENSP00000359454:F1014V;ENSP00000294696:F246V;ENSP00000359453:F693V|.	ENSP00000294696:F246V|.	F|I	-|-	1|3	0|3	HFM1|HFM1	91554060|91554060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.458000|0.458000	0.32498|0.32498	5.737000|5.737000	0.68606|0.68606	1.992000|1.992000	0.58205|0.58205	0.377000|0.377000	0.23210|0.23210	TTT|ATT		0.303	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
HFM1	164045	broad.mit.edu	37	1	91818705	91818705	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:91818705G>T	ENST00000370425.3	-	15	1832	c.1734C>A	c.(1732-1734)atC>atA	p.I578I	HFM1_ENST00000370424.3_Silent_p.I257I|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'Flank	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	578	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.I578I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATCTTTTAAGATATCTGTAA	0.318																																					p.I578I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1734A	1						.						84.0	77.0	79.0					1																	91818705		1809	4071	5880	91591293	SO:0001819	synonymous_variant	164045	exon15			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1734C>A	1.37:g.91818705G>T			91591293	NM_001017975	B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	CCDS30769.2																																																																																				0.318	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
BRDT	676	broad.mit.edu	37	1	92430235	92430235	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:92430235C>T	ENST00000362005.3	+	4	662	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BRDT_ENST00000399546.2_Missense_Mutation_p.R82C|BRDT_ENST00000402388.1_Missense_Mutation_p.R82C|BRDT_ENST00000370389.2_Missense_Mutation_p.R9C|BRDT_ENST00000394530.3_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	82	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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.R82C(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)		AATTAAGAAGCGCTTGGAGAA	0.274																																					p.R82C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C244T	1						.						27.0	29.0	28.0					1																	92430235		2182	4274	6456	92202823	SO:0001583	missense	676	exon3			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.244C>T	1.37:g.92430235C>T	ENSP00000354568:p.Arg82Cys		92202823	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851446	0.71719	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;0.71;1.93;1.93;1.93	5.67	5.67	0.87782	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000003	T	0.72961	0.3526	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80358	-0.1416	10	0.87932	D	0	-7.13	14.295	0.66304	0.1488:0.8512:0.0:0.0	.	82;82	B7Z890;Q58F21	.;BRDT_HUMAN	C	82;9;82;82;82;82;82;82;82;82;82;9;82	ENSP00000354568:R82C;ENSP00000359416:R9C;ENSP00000387822:R82C;ENSP00000396351:R82C;ENSP00000416714:R82C;ENSP00000400002:R82C;ENSP00000410587:R82C;ENSP00000404969:R82C;ENSP00000414349:R82C;ENSP00000447394:R82C;ENSP00000446599:R9C;ENSP00000384051:R82C	ENSP00000354568:R82C	R	+	1	0	BRDT	92202823	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.151000	0.42263	2.690000	0.91761	0.650000	0.86243	CGC		0.274	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
EPHX4	253152	broad.mit.edu	37	1	92508385	92508385	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:92508385C>A	ENST00000370383.4	+	3	421	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	EPHX4_ENST00000480758.1_3'UTR	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	108						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.S108Y(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCAGGTATTCTTGGCGTTAC	0.323																																					p.S108Y	GBM(140;473 1857 5172 22066 49719)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323A	1						.						84.0	86.0	85.0					1																	92508385		2203	4300	6503	92280973	SO:0001583	missense	253152	exon3			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.323C>A	1.37:g.92508385C>A	ENSP00000359410:p.Ser108Tyr		92280973	NM_173567	Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	CCDS736.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821208	0.90873	.	.	ENSG00000172031	ENST00000370383	T	0.04275	3.66	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.09465	-1.0673	10	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	108	Q8IUS5	EPHX4_HUMAN	Y	108	ENSP00000359410:S108Y	ENSP00000359410:S108Y	S	+	2	0	EPHX4	92280973	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.901000	0.75693	2.854000	0.98071	0.655000	0.94253	TCT		0.323	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
ALG14	199857	broad.mit.edu	37	1	95530462	95530462	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:95530462G>T	ENST00000370205.5	-	2	294	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	RP11-313A24.1_ENST00000451611.1_RNA|ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	83					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 membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.S83Y(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TAGTTCAAAAGAATTTATTTT	0.378																																					p.S83Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248A	1						.						141.0	140.0	140.0					1																	95530462		2203	4299	6502	95303050	SO:0001583	missense	199857	exon2				CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.248C>A	1.37:g.95530462G>T	ENSP00000359224:p.Ser83Tyr		95303050	NM_144988	A8K030	Missense_Mutation	SNP	ENST00000370205.5	37	CCDS752.1	.	.	.	.	.	.	.	.	.	.	g	5.227	0.227305	0.09916	.	.	ENSG00000172339	ENST00000370205	T	0.77358	-1.09	5.82	2.42	0.29668	.	0.444819	0.24185	N	0.040779	T	0.49966	0.1588	L	0.49126	1.545	0.09310	N	1	B	0.29805	0.257	B	0.28553	0.091	T	0.46748	-0.9169	10	0.56958	D	0.05	-0.4015	4.6321	0.12507	0.1345:0.1359:0.5908:0.1389	.	83	Q96F25	ALG14_HUMAN	Y	83	ENSP00000359224:S83Y	ENSP00000359224:S83Y	S	-	2	0	ALG14	95303050	0.940000	0.31905	0.571000	0.28486	0.074000	0.17049	2.247000	0.43151	0.763000	0.33175	-0.215000	0.12644	TCT		0.378	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988	
DPYD	1806	broad.mit.edu	37	1	97564144	97564144	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:97564144G>T	ENST00000370192.3	-	21	2767	c.2667C>A	c.(2665-2667)atC>atA	p.I889I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	889					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.I889I(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)	TTTCTGCTATGATTTTCTTGC	0.373																																					p.I889I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2667A	1						.						121.0	121.0	121.0					1																	97564144		2203	4300	6503	97336732	SO:0001819	synonymous_variant	1806	exon21			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.2667C>A	1.37:g.97564144G>T			97336732	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	CCDS30777.1																																																																																				0.373	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PLPPR4	9890	broad.mit.edu	37	1	99771647	99771647	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:99771647G>A	ENST00000370185.3	+	7	1870	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	LPPR4_ENST00000457765.1_Missense_Mutation_p.R400Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.R300Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		458					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R458Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAAAGTCGAAAGTTGTCC	0.493																																					p.R458Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1373A	1						.						71.0	70.0	71.0					1																	99771647		2203	4300	6503	99544235	SO:0001583	missense	9890	exon7																														ENST00000370185.3:c.1373G>A	1.37:g.99771647G>A	ENSP00000359204:p.Arg458Gln		99544235	NM_014839	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858871	0.51376	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.30448	2.08;1.97;1.53	5.5	5.5	0.81552	.	0.107611	0.64402	D	0.000005	T	0.29556	0.0737	L	0.58810	1.83	0.58432	D	0.999991	D;D	0.57899	0.981;0.964	P;B	0.47044	0.535;0.248	T	0.02282	-1.1183	9	.	.	.	-18.2466	19.3904	0.94578	0.0:0.0:1.0:0.0	.	400;458	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	458;400;458;300	ENSP00000359204:R458Q;ENSP00000394913:R400Q;ENSP00000359203:R300Q	.	R	+	2	0	RP4-788L13.1	99544235	1.000000	0.71417	0.290000	0.24890	0.837000	0.47467	5.975000	0.70475	2.575000	0.86900	0.650000	0.86243	CGA		0.493	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		
ELF3	1999	broad.mit.edu	37	1	201983066	201983066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr1:201983066delC	ENST00000359651.3	+	7	4107	c.915delC	c.(913-915)ttcfs	p.F305fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Del_p.F305fs|ELF3_ENST00000367284.5_Frame_Shift_Del_p.F305fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.L306fs*19(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						TCTTCAAGTTCCTGCGCTCCG	0.592																																					p.F305fs												.	.	2	Deletion - Frameshift(2)	large_intestine(2)	c.915delC	1						.						91.0	74.0	80.0					1																	201983066		2203	4300	6503	200249689	SO:0001589	frameshift_variant	1999	exon8			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.915delC	1.37:g.201983066delC	ENSP00000352673:p.Phe305fs		200249689	NM_001114309		Frame_Shift_Del	DEL	ENST00000359651.3	37	CCDS1419.1																																																																																				0.592	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433	
OR2T1	26696	broad.mit.edu	37	1	248570399	248570399	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	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		
MMP13	4322	broad.mit.edu	37	11	102815030	102815030	+	Missense_Mutation	SNP	G	G	A	rs558960918		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:102815030G>A	ENST00000260302.3	-	10	1409	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	461	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R461C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GGCATGACGCGAACAATACGG	0.348																																					p.R461C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1381T	11						.						138.0	150.0	146.0					11																	102815030		2202	4299	6501	102320240	SO:0001583	missense	4322	exon10			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1381C>T	11.37:g.102815030G>A	ENSP00000260302:p.Arg461Cys		102320240	NM_002427	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234853	0.58886	.	.	ENSG00000137745	ENST00000260302	T	0.02446	4.29	5.99	4.02	0.46733	Hemopexin/matrixin (2);	.	.	.	.	T	0.17280	0.0415	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02087	-1.1216	9	0.87932	D	0	.	15.2217	0.73316	0.0:0.0:0.7371:0.2629	.	461	P45452	MMP13_HUMAN	C	461	ENSP00000260302:R461C	ENSP00000260302:R461C	R	-	1	0	MMP13	102320240	1.000000	0.71417	0.972000	0.41901	0.348000	0.29142	4.323000	0.59221	1.483000	0.48342	0.655000	0.94253	CGC		0.348	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
AASDHPPT	60496	broad.mit.edu	37	11	105962137	105962137	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:105962137T>C	ENST00000278618.4	+	4	848	c.626T>C	c.(625-627)aTa>aCa	p.I209T	RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	209					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.I209T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AACTTGGATATAGGCCAAGTT	0.353																																					p.I209T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T626C	11						.						99.0	107.0	104.0					11																	105962137		2201	4299	6500	105467347	SO:0001583	missense	60496	exon4			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.626T>C	11.37:g.105962137T>C	ENSP00000278618:p.Ile209Thr		105467347	NM_015423	B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Missense_Mutation	SNP	ENST00000278618.4	37	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	T	10.26	1.300439	0.23650	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.77	5.77	0.91146	4&apos (2);-phosphopantetheinyl transferase (2);	0.259984	0.45126	D	0.000389	T	0.40979	0.1139	L	0.31065	0.9	0.32876	D	0.509851	B	0.02656	0.0	B	0.06405	0.002	T	0.45614	-0.9249	9	0.13853	T	0.58	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	209	Q9NRN7	ADPPT_HUMAN	T	144;144;209	.	ENSP00000278618:I209T	I	+	2	0	AASDHPPT	105467347	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.066000	0.64351	2.202000	0.70862	0.477000	0.44152	ATA		0.353	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	
GUCY1A2	2977	broad.mit.edu	37	11	106849448	106849448	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:106849448C>A	ENST00000526355.2	-	3	852	c.384G>T	c.(382-384)aaG>aaT	p.K128N	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.K128N|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.K128N	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	128					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.K128N(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)	TGTGGAAATTCTTTTCTGCAT	0.368																																					p.K128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	11						.						111.0	107.0	109.0					11																	106849448		2201	4298	6499	106354658	SO:0001583	missense	2977	exon3			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.384G>T	11.37:g.106849448C>A	ENSP00000431245:p.Lys128Asn		106354658	NM_000855	A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648857	0.47362	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87412	-1.92;-2.25;-1.92	5.73	4.82	0.62117	.	0.154543	0.28989	U	0.013491	D	0.83931	0.5361	N	0.22421	0.69	0.41443	D	0.987935	B;B;P	0.47484	0.22;0.372;0.896	B;B;P	0.51550	0.27;0.098;0.673	T	0.82110	-0.0619	10	0.25751	T	0.34	.	13.5827	0.61911	0.0:0.9249:0.0:0.0751	.	128;128;128	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	N	128	ENSP00000431245:K128N;ENSP00000282249:K128N;ENSP00000344874:K128N	ENSP00000282249:K128N	K	-	3	2	GUCY1A2	106354658	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.013000	0.49582	1.579000	0.49836	0.655000	0.94253	AAG		0.368	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
CWF19L2	143884	broad.mit.edu	37	11	107299966	107299966	+	Missense_Mutation	SNP	T	T	G	rs550302523		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:107299966T>G	ENST00000282251.5	-	8	1019	c.992A>C	c.(991-993)aAa>aCa	p.K331T	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K331T	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	331							catalytic activity (GO:0003824)	p.K177T(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)		ACCAATAAATTTTTCATTATT	0.323																																					p.K331T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A992C	11						.						97.0	96.0	97.0					11																	107299966		2201	4298	6499	106805176	SO:0001583	missense	143884	exon8			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.992A>C	11.37:g.107299966T>G	ENSP00000282251:p.Lys331Thr		106805176	NM_152434	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	2.846	-0.239282	0.05944	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.21031	2.03;2.03	5.16	1.54	0.23209	.	0.625149	0.17760	N	0.162928	T	0.22003	0.0530	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18745	-1.0327	10	0.33940	T	0.23	-6.5673	8.0344	0.30484	0.0:0.3268:0.0:0.6732	.	331	Q2TBE0	C19L2_HUMAN	T	331	ENSP00000282251:K331T;ENSP00000387533:K331T	ENSP00000282251:K331T	K	-	2	0	CWF19L2	106805176	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.502000	0.06390	0.366000	0.24427	0.482000	0.46254	AAA		0.323	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	
ATM	472	broad.mit.edu	37	11	108151823	108151823	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:108151823C>T	ENST00000452508.2	+	25	3693	c.3504C>T	c.(3502-3504)tgC>tgT	p.C1168C	ATM_ENST00000278616.4_Silent_p.C1168C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1168					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.C1168C(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)	GCCCTATCTGCGAAAAACAGG	0.363			"""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.C1168C		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3504T	11						.						120.0	121.0	121.0					11																	108151823		2201	4298	6499	107657033	SO:0001819	synonymous_variant	472	exon24	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.3504C>T	11.37:g.108151823C>T			107657033	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108202645	108202645	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:108202645T>G	ENST00000452508.2	+	53	7858	c.7669T>G	c.(7669-7671)Ttg>Gtg	p.L2557V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2557V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2557	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2557V(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)	CCATCACACTTTGTTTATTAT	0.318			"""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.L2557V		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7669G	11						.						88.0	89.0	89.0					11																	108202645		2201	4298	6499	107707855	SO:0001583	missense	472	exon52	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.7669T>G	11.37:g.108202645T>G	ENSP00000388058:p.Leu2557Val		107707855	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476825	0.63849	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.28	4.15	0.48705	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88381	0.6421	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.87571	0.2478	10	0.72032	D	0.01	.	8.3628	0.32369	0.0:0.152:0.0:0.848	.	2557	Q13315	ATM_HUMAN	V	2557	ENSP00000278616:L2557V;ENSP00000388058:L2557V	ENSP00000278616:L2557V	L	+	1	2	ATM	107707855	1.000000	0.71417	0.992000	0.48379	0.833000	0.47200	2.222000	0.42926	0.859000	0.35456	0.363000	0.22086	TTG		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EXPH5	23086	broad.mit.edu	37	11	108384958	108384958	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:108384958G>A	ENST00000265843.4	-	6	1386	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C|EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	426					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.R426C(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)		AAACTAACACGTTGGTAAACA	0.413																																					p.R426C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	11						.						147.0	147.0	147.0					11																	108384958		2201	4298	6499	107890168	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.1276C>T	11.37:g.108384958G>A	ENSP00000265843:p.Arg426Cys		107890168	NM_015065	Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.220915	0.22457	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.04360	4.22;4.15;4.0;4.22;4.07;3.64	5.66	2.12	0.27331	.	0.642064	0.15822	N	0.242924	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	D	0.61697	0.99	P	0.47744	0.556	T	0.38607	-0.9653	10	0.62326	D	0.03	-0.7619	5.0948	0.14727	0.0:0.1639:0.1628:0.6733	.	426	Q8NEV8	EXPH5_HUMAN	C	426;350;238;419;270;350;238	ENSP00000265843:R426C;ENSP00000391966:R350C;ENSP00000411390:R238C;ENSP00000432546:R419C;ENSP00000432683:R350C;ENSP00000446434:R238C	ENSP00000265843:R426C	R	-	1	0	EXPH5	107890168	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.132000	0.15891	0.116000	0.18110	-0.479000	0.04858	CGT		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
PPP2R1B	5519	broad.mit.edu	37	11	111618731	111618731	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:111618731T>G	ENST00000527614.1	-	11	1411	c.1346A>C	c.(1345-1347)gAa>gCa	p.E449A	PPP2R1B_ENST00000427203.2_Missense_Mutation_p.E288A|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.E449A|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.E404A|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.E322A|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.E385A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	449					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.E449A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		ATCAAAGAATTCCACACCCTA	0.353																																					p.E449A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1346C	11						.						110.0	99.0	103.0					11																	111618731		2201	4296	6497	111123941	SO:0001583	missense	5519	exon11			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1346A>C	11.37:g.111618731T>G	ENSP00000437193:p.Glu449Ala		111123941	NM_181699	A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469856	0.63625	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.53671	1.685	0.80722	D	1	B;P;B;B;B;B	0.35793	0.413;0.521;0.08;0.199;0.08;0.166	B;B;B;B;B;B	0.40410	0.224;0.328;0.123;0.2;0.125;0.124	T	0.15350	-1.0440	10	0.54805	T	0.06	-19.4496	14.2586	0.66070	0.0:0.0:0.0:1.0	.	322;404;288;385;449;449	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	A	449;322;385;449;288;404;322	ENSP00000311344:E449A;ENSP00000410671:E385A;ENSP00000437193:E449A;ENSP00000415759:E288A;ENSP00000343317:E404A;ENSP00000376775:E322A	ENSP00000311344:E449A	E	-	2	0	PPP2R1B	111123941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.387000	0.79785	2.308000	0.77769	0.533000	0.62120	GAA		0.353	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	
ALG9	79796	broad.mit.edu	37	11	111711524	111711524	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:111711524A>C	ENST00000531154.1	-	10	986	c.514T>G	c.(514-516)Tta>Gta	p.L172V	ALG9_ENST00000398006.2_Missense_Mutation_p.L172V|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	343					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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)	p.L575V(1)|p.L172V(1)|p.L576V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GGGTGGCCTAAATTCTGAACT	0.343																																					p.L172V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T514G	11						.						110.0	107.0	108.0					11																	111711524		1831	4084	5915	111216734	SO:0001583	missense	79796	exon10				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.514T>G	11.37:g.111711524A>C	ENSP00000435517:p.Leu172Val		111216734	NM_001077691	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156330	0.78114	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.62941	-0.01;-0.01	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	L	0.60957	1.885	0.80722	D	1	D;P;D;D	0.76494	0.999;0.685;0.997;0.987	D;B;P;P	0.80764	0.994;0.312;0.906;0.872	T	0.68496	-0.5393	10	0.25106	T	0.35	-12.3809	6.1489	0.20301	0.8019:0.0:0.1981:0.0	.	172;343;576;343	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	V	172;172;576	ENSP00000435517:L172V;ENSP00000381090:L172V	ENSP00000381090:L172V	L	-	1	2	ALG9	111216734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.589000	0.82641	2.222000	0.72286	0.533000	0.62120	TTA		0.343	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740	
C11orf57	55216	broad.mit.edu	37	11	111953428	111953428	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:111953428A>C	ENST00000280352.9	+	6	1247	c.611A>C	c.(610-612)aAa>aCa	p.K204T	TIMM8B_ENST00000507614.1_5'Flank|C11orf57_ENST00000420986.2_Missense_Mutation_p.K204T|C11orf57_ENST00000393047.3_Missense_Mutation_p.K205T|C11orf57_ENST00000532163.1_Missense_Mutation_p.K176T	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	204	Lys-rich.							p.K204T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAACCACATAAACGCAAGAAA	0.403																																					p.K205T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614C	11						.						106.0	112.0	110.0					11																	111953428		2201	4297	6498	111458638	SO:0001583	missense	55216	exon6			BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.611A>C	11.37:g.111953428A>C	ENSP00000339076:p.Lys204Thr		111458638	NM_001082969	Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Missense_Mutation	SNP	ENST00000280352.9	37	CCDS41715.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054905	0.55325	.	.	ENSG00000150776	ENST00000420986;ENST00000532163;ENST00000280352;ENST00000393047;ENST00000525785;ENST00000393048	.	.	.	5.5	5.5	0.81552	.	0.252366	0.46442	D	0.000285	T	0.55033	0.1895	N	0.11560	0.145	0.38213	D	0.940521	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66015	-0.6028	9	0.62326	D	0.03	-1.4453	14.9534	0.71091	1.0:0.0:0.0:0.0	.	205;204	Q6ZUT1-2;Q6ZUT1	.;CK057_HUMAN	T	204;176;204;205;176;59	.	ENSP00000339076:K204T	K	+	2	0	C11orf57	111458638	1.000000	0.71417	0.997000	0.53966	0.632000	0.37999	3.521000	0.53472	2.302000	0.77476	0.533000	0.62120	AAA		0.403	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1	NM_018195	
ZW10	9183	broad.mit.edu	37	11	113609028	113609028	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:113609028G>A	ENST00000200135.3	-	13	1986	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	614					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.D614D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCTCTTCATCGTCCATATTTG	0.408																																					p.D614D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1842T	11						.						120.0	114.0	116.0					11																	113609028		2201	4296	6497	113114238	SO:0001819	synonymous_variant	9183	exon13			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1842C>T	11.37:g.113609028G>A			113114238	NM_004724	A1A528	Silent	SNP	ENST00000200135.3	37	CCDS8363.1																																																																																				0.408	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724	
ZBTB16	7704	broad.mit.edu	37	11	113934842	113934842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:113934842G>T	ENST00000335953.4	+	2	1200	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	ZBTB16_ENST00000392996.2_Nonsense_Mutation_p.E274*	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	274					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E274*(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CAAGGTTGAGGAAAGAGGCAA	0.627																																					p.E274X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G820T	11						.						46.0	40.0	42.0					11																	113934842		2201	4296	6497	113440052	SO:0001587	stop_gained	7704	exon2			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.820G>T	11.37:g.113934842G>T	ENSP00000338157:p.Glu274*		113440052	NM_006006	Q8TAL4	Nonsense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	37	6.001141	0.97189	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	.	.	.	5.63	5.63	0.86233	.	0.234953	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.1954	19.679	0.95950	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000338157:E274X	E	+	1	0	ZBTB16	113440052	1.000000	0.71417	0.984000	0.44739	0.665000	0.39181	9.776000	0.99001	2.651000	0.90000	0.655000	0.94253	GAA		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
RNF214	257160	broad.mit.edu	37	11	117109610	117109610	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:117109610C>A	ENST00000531452.1	+	3	447	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	RNF214_ENST00000300650.4_Missense_Mutation_p.S134Y|RNF214_ENST00000531287.1_Intron|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	134							zinc ion binding (GO:0008270)	p.S134Y(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)		GTCACTCGGTCTCTTAAGGCA	0.542																																					p.S134Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C401A	11						.						63.0	66.0	65.0					11																	117109610		1977	4164	6141	116614820	SO:0001583	missense	257160	exon3			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.401C>A	11.37:g.117109610C>A	ENSP00000431643:p.Ser134Tyr		116614820	NM_001077239	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184419	0.78677	.	.	ENSG00000167257	ENST00000534428;ENST00000531452;ENST00000300650	T;T	0.39997	1.05;1.05	5.39	5.39	0.77823	.	0.289185	0.30464	N	0.009572	T	0.51176	0.1659	L	0.44542	1.39	0.33847	D	0.63214	D	0.54207	0.965	P	0.56700	0.804	T	0.64381	-0.6421	10	0.66056	D	0.02	-6.0202	14.6798	0.69009	0.0:1.0:0.0:0.0	.	134	Q8ND24	RN214_HUMAN	Y	134	ENSP00000431643:S134Y;ENSP00000300650:S134Y	ENSP00000300650:S134Y	S	+	2	0	RNF214	116614820	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.233000	0.43027	2.524000	0.85096	0.591000	0.81541	TCT		0.542	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
RNF214	257160	broad.mit.edu	37	11	117110570	117110570	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:117110570G>T	ENST00000531452.1	+	4	718	c.672G>T	c.(670-672)aaG>aaT	p.K224N	RNF214_ENST00000300650.4_Missense_Mutation_p.K224N|RNF214_ENST00000531287.1_Missense_Mutation_p.K69N|RNF214_ENST00000530849.1_Missense_Mutation_p.K69N	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	224							zinc ion binding (GO:0008270)	p.K224N(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)		ATATTGAAAAGAATTTGGTAA	0.333																																					p.K224N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G672T	11						.						65.0	64.0	64.0					11																	117110570		1820	4072	5892	116615780	SO:0001583	missense	257160	exon4			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.672G>T	11.37:g.117110570G>T	ENSP00000431643:p.Lys224Asn		116615780	NM_001077239	B2RUW0|B4DTD1	Missense_Mutation	SNP	ENST00000531452.1	37	CCDS41720.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344029	0.24339	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;D;T	0.94650	2.57;1.13;-3.48;1.13	5.96	3.1	0.35709	.	0.237004	0.42053	D	0.000769	D	0.94748	0.8305	L	0.57536	1.79	0.34761	D	0.732716	B;D	0.67145	0.403;0.996	B;P	0.61874	0.221;0.895	D	0.94047	0.7314	10	0.27082	T	0.32	-10.3497	9.033	0.36271	0.2819:0.0:0.7181:0.0	.	69;224	B4DTD1;Q8ND24	.;RN214_HUMAN	N	69;224;69;224	ENSP00000435361:K69N;ENSP00000431643:K224N;ENSP00000432903:K69N;ENSP00000300650:K224N	ENSP00000300650:K224N	K	+	3	2	RNF214	116615780	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.862000	0.39448	0.873000	0.35799	-0.142000	0.14014	AAG		0.333	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	NM_001077239	
DSCAML1	57453	broad.mit.edu	37	11	117310593	117310593	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:117310593G>A	ENST00000321322.6	-	22	4103	c.4102C>T	c.(4102-4104)Cgg>Tgg	p.R1368W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1098W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1308	Ig-like C2-type 10.				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.R1368W(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)		CAAGGCAGCCGAACATCTTTC	0.582																																					p.R1368W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4102T	11						.						165.0	144.0	151.0					11																	117310593		2201	4296	6497	116815803	SO:0001583	missense	57453	exon22				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.4102C>T	11.37:g.117310593G>A	ENSP00000315465:p.Arg1368Trp		116815803	NM_020693	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808759	0.70797	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.28666	1.6;1.6	4.89	2.9	0.33743	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51753	0.1693	M	0.72479	2.2	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	T	0.56848	-0.7911	9	0.62326	D	0.03	.	12.818	0.57677	0.0:0.0:0.7048:0.2952	.	1308	Q8TD84	DSCL1_HUMAN	W	1098;1368;1075	ENSP00000434335:R1098W;ENSP00000315465:R1368W	ENSP00000315465:R1368W	R	-	1	2	DSCAML1	116815803	0.209000	0.23505	0.999000	0.59377	0.930000	0.56654	1.444000	0.35068	1.272000	0.44329	-0.314000	0.08810	CGG		0.582	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693	
TMPRSS13	84000	broad.mit.edu	37	11	117779363	117779363	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:117779363C>T	ENST00000430170.2	-	9	1333	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A416T|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A381T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A416T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A416T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	416	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.A416T(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)		CGCATGAGGGCGATGTCATAG	0.632																																					p.A416T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246A	11						.						34.0	39.0	37.0					11																	117779363		2134	4239	6373	117284573	SO:0001583	missense	84000	exon9			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.1246G>A	11.37:g.117779363C>T	ENSP00000387702:p.Ala416Thr		117284573	NM_001077263	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	C	35	5.579165	0.96565	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;D	0.92299	-1.12;-1.12;-1.12;-1.12;-3.01	4.98	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000008	D	0.97167	0.9074	M	0.93978	3.48	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;0.987;0.975	D	0.98336	1.0536	10	0.87932	D	0	.	17.8409	0.88715	0.0:1.0:0.0:0.0	.	411;411;411;416	E9PHM4;Q9BYE2-4;Q9BYE2;E9PRA0	.;.;TMPSD_HUMAN;.	T	381;411;416;416;416;416	ENSP00000435813:A381T;ENSP00000434279:A416T;ENSP00000387702:A416T;ENSP00000394114:A416T;ENSP00000436502:A416T	ENSP00000337113:A411T	A	-	1	0	TMPRSS13	117284573	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.397000	0.79903	2.314000	0.78098	0.655000	0.94253	GCC		0.632	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
IL10RA	3587	broad.mit.edu	37	11	117859201	117859201	+	Nonsense_Mutation	SNP	G	G	T	rs572945136	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:117859201G>T	ENST00000227752.3	+	2	292	c.172G>T	c.(172-174)Gaa>Taa	p.E58*	IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Nonsense_Mutation_p.E38*	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	58					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E58*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TACCTGCTATGAAGTGGCGCT	0.552																																					p.E58X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G172T	11						.						85.0	77.0	79.0					11																	117859201		2201	4296	6497	117364411	SO:0001587	stop_gained	3587	exon2			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.172G>T	11.37:g.117859201G>T	ENSP00000227752:p.Glu58*		117364411	NM_001558	A8K6I0|B0YJ27	Nonsense_Mutation	SNP	ENST00000227752.3	37	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880037	0.72294	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	.	.	.	5.13	5.13	0.70059	.	1.594970	0.03311	N	0.190495	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-12.1501	14.0811	0.64922	0.0:0.0:1.0:0.0	.	.	.	.	X	58;38;38	.	ENSP00000227752:E58X	E	+	1	0	IL10RA	117364411	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.413000	0.59795	2.374000	0.81015	0.555000	0.69702	GAA		0.552	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1		
SCN2B	6327	broad.mit.edu	37	11	118038803	118038803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:118038803C>A	ENST00000278947.5	-	3	686	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	149	Ig-like C2-type.				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.E149*(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)	CCTTCACCTTCCATGAGGACC	0.617																																					p.E149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G445T	11						.						48.0	38.0	42.0					11																	118038803		2200	4296	6496	117544013	SO:0001587	stop_gained	6327	exon3			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.445G>T	11.37:g.118038803C>A	ENSP00000278947:p.Glu149*		117544013	NM_004588	O75302|Q9UNN3	Nonsense_Mutation	SNP	ENST00000278947.5	37	CCDS8390.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160323	0.94727	.	.	ENSG00000149575	ENST00000278947	.	.	.	4.9	3.94	0.45596	.	0.108034	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	16.3527	0.83220	0.0:0.8567:0.1433:0.0	.	.	.	.	X	149	.	ENSP00000278947:E149X	E	-	1	0	SCN2B	117544013	0.987000	0.35691	0.993000	0.49108	0.507000	0.33981	1.809000	0.38922	2.552000	0.86080	0.655000	0.94253	GAA		0.617	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109748.2	NM_004588	
MPZL2	10205	broad.mit.edu	37	11	118130796	118130796	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:118130796C>A	ENST00000278937.2	-	4	685	c.557G>T	c.(556-558)aGa>aTa	p.R186I	MPZL2_ENST00000438295.2_Missense_Mutation_p.R186I|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	186					anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R186I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTTATGAGCTCTTTCGGCCCA	0.463																																					p.R186I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557T	11						.						246.0	248.0	247.0					11																	118130796		2200	4296	6496	117636006	SO:0001583	missense	10205	exon4			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"""Immunoglobulin superfamily / V-set domain containing"""	3496	protein-coding gene	gene with protein product		604873	"""epithelial V-like antigen 1"""	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.557G>T	11.37:g.118130796C>A	ENSP00000278937:p.Arg186Ile		117636006	NM_144765	A8K2R1	Missense_Mutation	SNP	ENST00000278937.2	37	CCDS8393.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063175	0.55432	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.97404	-4.37;-4.37	6.07	4.15	0.48705	.	0.864324	0.10690	N	0.645339	D	0.92753	0.7696	N	0.19112	0.55	0.18873	N	0.999989	B	0.33448	0.412	B	0.32289	0.143	D	0.86623	0.1880	10	0.37606	T	0.19	.	10.6437	0.45606	0.0:0.7833:0.0:0.2167	.	186	O60487	MPZL2_HUMAN	I	186	ENSP00000278937:R186I;ENSP00000408362:R186I	ENSP00000278937:R186I	R	-	2	0	MPZL2	117636006	0.003000	0.15002	0.773000	0.31616	0.993000	0.82548	0.400000	0.20932	1.495000	0.48549	0.655000	0.94253	AGA		0.463	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392113.1	NM_005797	
KMT2A	4297	broad.mit.edu	37	11	118376502	118376502	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:118376502T>C	ENST00000389506.5	+	27	9886	c.9886T>C	c.(9886-9888)Ttt>Ctt	p.F3296L	KMT2A_ENST00000354520.4_Missense_Mutation_p.F3258L|KMT2A_ENST00000534358.1_Missense_Mutation_p.F3299L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3296					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.F3296L(1)									CATCATGTATTTTGAACCGGC	0.463																																					p.F3296L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9886C	11						.						104.0	103.0	103.0					11																	118376502		2200	4295	6495	117881712	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.9886T>C	11.37:g.118376502T>C	ENSP00000374157:p.Phe3296Leu		117881712	NM_005933	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589515	0.28357	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.78707	-1.19;-1.2;-1.16	5.82	5.82	0.92795	.	0.060171	0.64402	D	0.000001	T	0.62612	0.2442	N	0.19112	0.55	0.52099	D	0.999942	B;B	0.24963	0.115;0.115	B;B	0.15870	0.014;0.014	T	0.60439	-0.7263	10	0.09084	T	0.74	.	16.1809	0.81898	0.0:0.0:0.0:1.0	.	3299;3296	E9PQG7;Q03164	.;MLL1_HUMAN	L	3299;3296;3258;2206	ENSP00000436786:F3299L;ENSP00000374157:F3296L;ENSP00000346516:F3258L	ENSP00000346516:F3258L	F	+	1	0	MLL	117881712	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.691000	0.61738	2.229000	0.72834	0.383000	0.25322	TTT		0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
VPS11	55823	broad.mit.edu	37	11	118944541	118944541	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:118944541C>T	ENST00000300793.6	+	8	1157	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	373					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.A372V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TTTGAGATGGCGATTAACCTT	0.478																																					p.R373X												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1117T	11						.						99.0	90.0	93.0					11																	118944541		1901	4122	6023	118449751	SO:0001583	missense	55823	exon7			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1115C>T	11.37:g.118944541C>T	ENSP00000475301:p.Ala372Val		118449751	NM_021729	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.478	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729	
MCAM	4162	broad.mit.edu	37	11	119181151	119181151	+	Missense_Mutation	SNP	C	C	T	rs201149343		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:119181151C>T	ENST00000264036.4	-	15	1833	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	MCAM_ENST00000392814.1_3'UTR	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	607					anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E607K(2)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ACTACAAGTTCGCTCTTACGA	0.592																																					p.E607K												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G1819A	11						.						108.0	109.0	109.0					11																	119181151		2199	4295	6494	118686361	SO:0001583	missense	4162	exon15			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1819G>A	11.37:g.119181151C>T	ENSP00000264036:p.Glu607Lys		118686361	NM_006500	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598639	0.46318	.	.	ENSG00000076706	ENST00000264036	T	0.57907	0.37	5.28	4.37	0.52481	.	.	.	.	.	T	0.29223	0.0727	N	0.17474	0.49	0.80722	D	1	P	0.40638	0.725	B	0.23716	0.048	T	0.11251	-1.0595	9	0.41790	T	0.15	-13.4298	11.1149	0.48254	0.0:0.846:0.0:0.154	.	607	P43121	MUC18_HUMAN	K	607	ENSP00000264036:E607K	ENSP00000264036:E607K	E	-	1	0	MCAM	118686361	1.000000	0.71417	0.830000	0.32933	0.793000	0.44817	3.841000	0.55850	1.219000	0.43474	0.563000	0.77884	GAA		0.592	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2		
USP47	55031	broad.mit.edu	37	11	11969545	11969545	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:11969545T>G	ENST00000399455.2	+	22	3325	c.3205T>G	c.(3205-3207)Tta>Gta	p.L1069V	USP47_ENST00000527733.1_Missense_Mutation_p.L1049V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.L981V	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1069					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.L981V(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)		CAAACAACATTTAGAGCCCTT	0.393																																					p.L981V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2941G	11						.						156.0	146.0	149.0					11																	11969545		1839	4081	5920	11926121	SO:0001583	missense	55031	exon20			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.3205T>G	11.37:g.11969545T>G	ENSP00000382382:p.Leu1069Val		11926121	NM_017944	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	T	18.85	3.711898	0.68730	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94862	-3.54;-3.54;-3.54	5.46	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.95516	0.8543	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70487	0.967;0.969	D	0.94784	0.7956	10	0.87932	D	0	.	9.1982	0.37242	0.0:0.1493:0.0:0.8507	.	1049;981	E9PM46;Q96K76-2	.;.	V	981;1049;1069	ENSP00000339957:L981V;ENSP00000433146:L1049V;ENSP00000382382:L1069V	ENSP00000339957:L981V	L	+	1	2	USP47	11926121	0.422000	0.25473	0.983000	0.44433	0.981000	0.71138	0.831000	0.27476	0.886000	0.36113	-0.376000	0.06991	TTA		0.393	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944	
USP2	9099	broad.mit.edu	37	11	119228214	119228214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:119228214C>A	ENST00000260187.2	-	11	1882	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	USP2_ENST00000455332.2_Nonsense_Mutation_p.E287*|USP2_ENST00000525735.1_Nonsense_Mutation_p.E321*	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	530	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E530*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GAGGCAAATTCTCTTAAGTCC	0.522																																					p.E321X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G961T	11						.						98.0	103.0	101.0					11																	119228214		2199	4295	6494	118733424	SO:0001587	stop_gained	9099	exon10			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1588G>T	11.37:g.119228214C>A	ENSP00000260187:p.Glu530*		118733424	NM_171997	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Nonsense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	38	7.148130	0.98096	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-3.7313	18.7244	0.91708	0.0:1.0:0.0:0.0	.	.	.	.	X	287;530;277;321	.	ENSP00000260187:E530X	E	-	1	0	USP2	118733424	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.673000	0.61604	2.678000	0.91216	0.655000	0.94253	GAA		0.522	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	
SC5D	6309	broad.mit.edu	37	11	121177986	121177986	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:121177986T>G	ENST00000392789.2	+	5	902	c.665T>G	c.(664-666)tTt>tGt	p.F222C	SC5D_ENST00000264027.4_Missense_Mutation_p.F222C|SC5D_ENST00000534230.1_Intron	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	222				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.F222C(1)									TTACAGCCATTTATTAATGGC	0.373																																					p.F222C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T665G	11						.						162.0	164.0	164.0					11																	121177986		2203	4299	6502	120683196	SO:0001583	missense	6309	exon5				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.665T>G	11.37:g.121177986T>G	ENSP00000376539:p.Phe222Cys		120683196	NM_006918	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244282	0.79912	.	.	ENSG00000109929	ENST00000264027;ENST00000392789	D;D	0.84944	-1.92;-1.92	6.02	6.02	0.97574	Fatty acid hydroxylase (1);	0.278521	0.39759	N	0.001267	D	0.92802	0.7711	M	0.86953	2.85	0.38716	D	0.953339	D	0.55385	0.971	D	0.64687	0.928	D	0.94565	0.7766	10	0.72032	D	0.01	-9.8785	15.5272	0.75919	0.0:0.0:0.0:1.0	.	222	O75845	SC5D_HUMAN	C	222	ENSP00000264027:F222C;ENSP00000376539:F222C	ENSP00000264027:F222C	F	+	2	0	SC5DL	120683196	1.000000	0.71417	0.797000	0.32132	0.942000	0.58702	4.240000	0.58701	2.311000	0.77944	0.533000	0.62120	TTT		0.373	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956	
CRTAM	56253	broad.mit.edu	37	11	122738726	122738726	+	Missense_Mutation	SNP	G	G	A	rs148256561		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:122738726G>A	ENST00000227348.4	+	9	1017	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	CRTAM_ENST00000533709.1_Missense_Mutation_p.E125K	NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.E324K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGTAGAAAACGAAGTTTCAGA	0.323																																					p.E324K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G970A	11						.	G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	80.0	71.0	74.0		970	4.9	1.0	11	dbSNP_134	74	1,8597		0,1,4298	no	missense	CRTAM	NM_019604.2	56	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	324/394	122738726	2,13000	2202	4299	6501	122243936	SO:0001583	missense	56253	exon9			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.970G>A	11.37:g.122738726G>A	ENSP00000227348:p.Glu324Lys		122243936	NM_019604		Missense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888420	0.72524	2.27E-4	1.16E-4	ENSG00000109943	ENST00000227348;ENST00000533709	T;T	0.66099	-0.19;0.92	4.89	4.89	0.63831	.	0.258920	0.37348	N	0.002135	T	0.73776	0.3630	M	0.68952	2.095	0.58432	D	0.999994	D;D	0.69078	0.997;0.992	P;P	0.58520	0.84;0.665	T	0.77670	-0.2501	10	0.72032	D	0.01	.	15.5745	0.76365	0.0:0.0:1.0:0.0	.	125;324	O95727-2;O95727	.;CRTAM_HUMAN	K	324;125	ENSP00000227348:E324K;ENSP00000433728:E125K	ENSP00000227348:E324K	E	+	1	0	CRTAM	122243936	1.000000	0.71417	0.988000	0.46212	0.492000	0.33523	5.944000	0.70219	2.249000	0.74217	0.563000	0.77884	GAA		0.323	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	
OR10G9	219870	broad.mit.edu	37	11	123893819	123893819	+	Missense_Mutation	SNP	G	G	A	rs201447659		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:123893819G>A	ENST00000375024.1	+	1	100	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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)		GGTGGTTTACGTGCTCACTGT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20523	0.0		0.0	False		,,,				2504	0.0				p.V34M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G100A	11						.						168.0	152.0	158.0					11																	123893819		2201	4299	6500	123399029	SO:0001583	missense	219870	exon1			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.100G>A	11.37:g.123893819G>A	ENSP00000364164:p.Val34Met		123399029	NM_001001953		Missense_Mutation	SNP	ENST00000375024.1	37	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274055	0.23221	.	.	ENSG00000236981	ENST00000375024	T	0.03035	4.07	3.33	1.36	0.22044	.	0.946353	0.08678	N	0.909827	T	0.02119	0.0066	N	0.14661	0.345	0.09310	N	1	B	0.26876	0.162	B	0.22880	0.042	T	0.49725	-0.8909	10	0.14656	T	0.56	.	4.1116	0.10062	0.0953:0.1568:0.5867:0.1612	.	34	Q8NGN4	O10G9_HUMAN	M	34	ENSP00000364164:V34M	ENSP00000364164:V34M	V	+	1	0	OR10G9	123399029	0.000000	0.05858	0.009000	0.14445	0.415000	0.31203	-1.724000	0.01865	0.212000	0.20703	0.655000	0.94253	GTG		0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953	
OR8D2	283160	broad.mit.edu	37	11	124189273	124189273	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:124189273G>T	ENST00000357438.2	-	1	911	c.821C>A	c.(820-822)tCt>tAt	p.S274Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S274Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAACACAGAAGACACCTTCTC	0.428																																					p.S274Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C821A	11						.						156.0	161.0	159.0					11																	124189273		2201	4299	6500	123694483	SO:0001583	missense	283160	exon1			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.821C>A	11.37:g.124189273G>T	ENSP00000350022:p.Ser274Tyr		123694483	NM_001002918	B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.935034	0.34189	.	.	ENSG00000197263	ENST00000357438	T	0.36878	1.23	3.34	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000219	T	0.45657	0.1353	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14420	-1.0473	10	0.72032	D	0.01	.	4.8806	0.13677	0.4023:0.0:0.5977:0.0	.	274	Q9GZM6	OR8D2_HUMAN	Y	274	ENSP00000350022:S274Y	ENSP00000350022:S274Y	S	-	2	0	OR8D2	123694483	0.000000	0.05858	0.119000	0.21687	0.784000	0.44337	0.119000	0.15626	1.005000	0.39183	0.530000	0.56133	TCT		0.428	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918	
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	G	A	rs534292971		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000526899.1_5'Flank|ROBO4_ENST00000533054.1_Silent_p.S162S	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {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.S307S(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)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001				p.S307S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921T	11						.						33.0	41.0	38.0					11																	124765468		2199	4291	6490	124270678	SO:0001819	synonymous_variant	54538	exon6			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.921C>T	11.37:g.124765468G>A			124270678	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																				0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
BARX2	8538	broad.mit.edu	37	11	129321108	129321108	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:129321108G>A	ENST00000281437.4	+	4	747	c.651G>A	c.(649-651)gaG>gaA	p.E217E	BARX2_ENST00000526127.1_Silent_p.E72E|BARX2_ENST00000531946.1_Silent_p.E95E	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	217					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|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)	p.E217E(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CATCAGAAGAGATTGAAGCTG	0.517																																					p.E217E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G651A	11						.						77.0	66.0	70.0					11																	129321108		2201	4297	6498	128826318	SO:0001819	synonymous_variant	8538	exon4			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.651G>A	11.37:g.129321108G>A			128826318	NM_003658	O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	CCDS8481.1																																																																																				0.517	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658	
TMEM45B	120224	broad.mit.edu	37	11	129727340	129727340	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:129727340T>G	ENST00000524567.1	+	5	984	c.703T>G	c.(703-705)Tct>Gct	p.S235A	TMEM45B_ENST00000281441.3_Missense_Mutation_p.S235A			Q96B21	TM45B_HUMAN	transmembrane protein 45B	235						integral component of membrane (GO:0016021)		p.S235A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CGTCAACTATTCTCTTGTTTA	0.488																																					p.S235A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T703G	11						.						233.0	177.0	196.0					11																	129727340		2201	4297	6498	129232550	SO:0001583	missense	120224	exon5			AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.703T>G	11.37:g.129727340T>G	ENSP00000436293:p.Ser235Ala		129232550	NM_138788	A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.436337	0.01108	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.42900	0.96;0.96	5.79	0.275	0.15659	.	0.575966	0.20730	N	0.086728	T	0.22975	0.0555	L	0.28400	0.85	0.23070	N	0.99834	B	0.02656	0.0	B	0.06405	0.002	T	0.21211	-1.0252	10	0.12103	T	0.63	-22.4141	6.2093	0.20619	0.3506:0.0:0.2403:0.4091	.	235	Q96B21	TM45B_HUMAN	A	235	ENSP00000281441:S235A;ENSP00000436293:S235A	ENSP00000281441:S235A	S	+	1	0	TMEM45B	129232550	0.001000	0.12720	0.099000	0.21106	0.068000	0.16541	-0.007000	0.12810	0.067000	0.16545	-0.336000	0.08194	TCT		0.488	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788	
APLP2	334	broad.mit.edu	37	11	129979480	129979480	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:129979480C>A	ENST00000263574.5	+	2	334	c.262C>A	c.(262-264)Ctt>Att	p.L88I	APLP2_ENST00000528499.1_Missense_Mutation_p.L88I|APLP2_ENST00000278756.7_Missense_Mutation_p.L98I|APLP2_ENST00000345598.5_Missense_Mutation_p.L88I|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.L88I|APLP2_ENST00000532456.1_3'UTR	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	88					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.L88I(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)		AGAAGAAGTTCTTCAGTACTG	0.403																																					p.L88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262A	11						.						95.0	87.0	90.0					11																	129979480		2201	4297	6498	129484690	SO:0001583	missense	334	exon2			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.262C>A	11.37:g.129979480C>A	ENSP00000263574:p.Leu88Ile		129484690	NM_001642	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198147	0.94997	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.97598	-4.45;-2.87;-4.22;-2.92;-2.91	5.93	5.93	0.95920	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.993;0.998;0.993;0.997	D;D;D;D;D	0.91635	0.999;0.991;0.99;0.991;0.998	D	0.99441	1.0938	10	0.87932	D	0	-18.4285	19.3421	0.94347	0.0:1.0:0.0:0.0	.	88;88;88;88;88	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	I	35;113;73;88;88;88;88;98	ENSP00000435914:L88I;ENSP00000263574:L88I;ENSP00000263575:L88I;ENSP00000345444:L88I;ENSP00000278756:L98I	ENSP00000263574:L88I	L	+	1	0	APLP2	129484690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.774000	0.68906	2.826000	0.97356	0.655000	0.94253	CTT		0.403	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
ZBTB44	29068	broad.mit.edu	37	11	130131323	130131323	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:130131323G>T	ENST00000357899.4	-	2	718	c.446C>A	c.(445-447)tCt>tAt	p.S149Y	ZBTB44_ENST00000397753.1_Missense_Mutation_p.S149Y|ZBTB44_ENST00000525842.1_Missense_Mutation_p.S149Y|ZBTB44_ENST00000530205.1_Missense_Mutation_p.S149Y			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	149					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.S149Y(1)		autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	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;0.0192)|Lung(977;0.235)		ATTGCAGTTAGAATTATTTTC	0.458																																					p.S149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446A	11						.						57.0	55.0	56.0					11																	130131323		1866	4114	5980	129636533	SO:0001583	missense	29068	exon2			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.446C>A	11.37:g.130131323G>T	ENSP00000350574:p.Ser149Tyr		129636533	NM_014155	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.54|14.54|14.54	2.565573|2.565573|2.565573	0.45694|0.45694|0.45694	.|.|.	.|.|.	ENSG00000196323|ENSG00000196323|ENSG00000196323	ENST00000527478|ENST00000529982|ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205;ENST00000338191	.|.|T;T;T;T;T	.|.|0.53423	.|.|0.62;0.62;0.62;0.62;0.62	5.37|5.37|5.37	5.37|5.37|5.37	0.77165|0.77165|0.77165	.|.|.	.|.|0.225089	.|.|0.44483	.|.|D	.|.|0.000457	T|T|T	0.36331|0.36331|0.36331	0.0963|0.0963|0.0963	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.37770|0.37770|0.37770	D|D|D	0.92664|0.92664|0.92664	.|.|B;B;B;B	.|.|0.31351	.|.|0.32;0.32;0.07;0.32	.|.|B;B;B;B	.|.|0.38056	.|.|0.264;0.176;0.058;0.264	T|T|T	0.47045|0.47045|0.47045	-0.9147|-0.9147|-0.9147	5|5|10	.|.|0.87932	.|.|D	.|.|0	.|.|.	12.4582|12.4582|12.4582	0.55716|0.55716|0.55716	0.0767:0.0:0.9233:0.0|0.0767:0.0:0.9233:0.0|0.0767:0.0:0.9233:0.0	.|.|.	.|.|149;149;149;149	.|.|Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2	.|.|.;.;ZBT44_HUMAN;.	L|I|Y	145|3|149;149;149;149;149;61	.|.|ENSP00000433457:S149Y;ENSP00000380861:S149Y;ENSP00000408079:S149Y;ENSP00000350574:S149Y;ENSP00000434177:S149Y	.|.|ENSP00000341618:S61Y	F|L|S	-|-|-	3|1|2	2|2|0	ZBTB44|ZBTB44|ZBTB44	129636533|129636533|129636533	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	7.650000|7.650000|7.650000	0.83521|0.83521|0.83521	2.509000|2.509000|2.509000	0.84616|0.84616|0.84616	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTA|TCT		0.458	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155	
SNX19	399979	broad.mit.edu	37	11	130749590	130749590	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:130749590A>C	ENST00000265909.4	-	10	3344	c.2775T>G	c.(2773-2775)atT>atG	p.I925M	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.I368M|SNX19_ENST00000528555.1_Missense_Mutation_p.I305M|SNX19_ENST00000545537.1_Missense_Mutation_p.I165M|SNX19_ENST00000426933.2_Missense_Mutation_p.I93M|SNX19_ENST00000530356.1_Missense_Mutation_p.I305M|SNX19_ENST00000534726.1_Missense_Mutation_p.I165M	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	925					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.I925M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCACCCCAAGAATTTCTACTA	0.453																																					p.I925M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2775G	11						.						84.0	80.0	81.0					11																	130749590		2201	4297	6498	130254800	SO:0001583	missense	399979	exon10			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2775T>G	11.37:g.130749590A>C	ENSP00000265909:p.Ile925Met		130254800	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	A	4.967	0.179556	0.09443	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	6.06	4.14	0.48551	Sorting nexin, C-terminal (1);	0.453272	0.24930	N	0.034479	T	0.20861	0.0502	L	0.42245	1.32	0.41655	D	0.989159	B;P	0.40000	0.029;0.698	B;B	0.35688	0.049;0.208	T	0.04752	-1.0929	10	0.23891	T	0.37	-11.3321	6.0556	0.19809	0.2156:0.1385:0.6459:0.0	.	368;925	F5H5D1;Q92543	.;SNX19_HUMAN	M	925;165;165;93;305;305;368	ENSP00000265909:I925M;ENSP00000433699:I165M;ENSP00000437982:I165M;ENSP00000413345:I93M;ENSP00000435122:I305M;ENSP00000432307:I305M;ENSP00000443480:I368M	ENSP00000265909:I925M	I	-	3	3	SNX19	130254800	1.000000	0.71417	0.972000	0.41901	0.171000	0.22731	1.510000	0.35790	0.828000	0.34709	-0.248000	0.11899	ATT		0.453	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
OR51T1	401665	broad.mit.edu	37	11	4903613	4903613	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:4903613C>A	ENST00000322049.1	+	1	484	c.484C>A	c.(484-486)Ctt>Att	p.L162I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.L189I			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L189I(1)|p.L162I(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)		ACTTCCCCTTCTTGTAGCCAT	0.458																																					p.L189I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C565A	11						.						160.0	149.0	153.0					11																	4903613		2201	4298	6499	4860189	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.484C>A	11.37:g.4903613C>A	ENSP00000322679:p.Leu162Ile		4860189	NM_001004759	Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37		.	.	.	.	.	.	.	.	.	.	C	0.007	-2.004519	0.00431	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.39997	1.05;1.05	4.8	-9.59	0.00556	GPCR, rhodopsin-like superfamily (1);	3.535090	0.00951	N	0.002965	T	0.16811	0.0404	N	0.11651	0.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	10	0.14656	T	0.56	.	2.2149	0.03957	0.2838:0.3775:0.1378:0.2009	.	162	Q8NGJ9	O51T1_HUMAN	I	189;162	ENSP00000369738:L189I;ENSP00000322679:L162I	ENSP00000322679:L162I	L	+	1	0	OR51T1	4860189	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-4.084000	0.00298	-3.525000	0.00147	-1.213000	0.01624	CTT		0.458	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759	
OR52A5	390054	broad.mit.edu	37	11	5153680	5153680	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5153680A>C	ENST00000307388.1	-	1	192	c.193T>G	c.(193-195)Ttg>Gtg	p.L65V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	65					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.L65V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACATGGCCAAAAAAATGTAC	0.378																																					p.L65V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T193G	11						.						73.0	73.0	73.0					11																	5153680		2201	4298	6499	5110256	SO:0001583	missense	390054	exon1			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.193T>G	11.37:g.5153680A>C	ENSP00000303469:p.Leu65Val		5110256	NM_001005160		Missense_Mutation	SNP	ENST00000307388.1	37	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	A	9.238	1.037668	0.19669	.	.	ENSG00000171944	ENST00000307388	T	0.14022	2.54	5.22	-2.94	0.05581	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32753	N	0.005699	T	0.19087	0.0458	M	0.90252	3.1	0.22675	N	0.998866	P	0.35959	0.53	B	0.36418	0.224	T	0.16867	-1.0388	10	0.87932	D	0	.	8.2264	0.31570	0.3257:0.0:0.5436:0.1306	.	65	Q9H2C5	O52A5_HUMAN	V	65	ENSP00000303469:L65V	ENSP00000303469:L65V	L	-	1	2	OR52A5	5110256	0.000000	0.05858	0.330000	0.25442	0.270000	0.26580	-0.268000	0.08607	-0.403000	0.07622	-0.290000	0.09829	TTG		0.378	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160	
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	C	T	rs550954546		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5221880C>T	ENST00000321255.1	-	1	50	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	17					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.T17T(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.001				p.T17T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G51A	11						.						83.0	81.0	82.0					11																	5221880		2201	4298	6499	5178456	SO:0001819	synonymous_variant	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.51G>A	11.37:g.5221880C>T			5178456	NM_001004760		Silent	SNP	ENST00000321255.1	37	CCDS31375.1																																																																																				0.428	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
HBB	3043	broad.mit.edu	37	11	5247996	5247996	+	Missense_Mutation	SNP	G	G	T	rs36029927|rs281864570|rs35755331|rs281864897|rs281864900|rs80356821	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5247996G>T	ENST00000335295.4	-	2	175	c.126C>A	c.(124-126)ttC>ttA	p.F42L	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	42			F -> Y (in Mequon).|Missing (in Bruxelles). {ECO:0000269|PubMed:2599881}.	F -> L (in Ref. 13; AAR96398). {ECO:0000305}.	bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.F42L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGGACTCAAAGAACCTCTGGG	0.517									Sickle Cell Trait																												p.F42L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C126A	11	GRCh37	CD920864|CI032768	HBB	D|I	rs34532766	.						101.0	99.0	100.0					11																	5247996		2201	4298	6499	5204572	SO:0001583	missense	3043	exon2	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.126C>A	11.37:g.5247996G>T	ENSP00000333994:p.Phe42Leu		5204572	NM_000518	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.029800	0.75504	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.91631	-2.88;-2.88	5.1	4.19	0.49359	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.90497	0.7023	L	0.48986	1.54	0.38186	D	0.939757	B	0.27882	0.192	B	0.41619	0.361	D	0.88927	0.3370	9	0.72032	D	0.01	-10.8741	5.8737	0.18816	0.2238:0.0:0.7762:0.0	.	42	P68871	HBB_HUMAN	L	42	ENSP00000333994:F42L;ENSP00000369671:F42L	ENSP00000333994:F42L	F	-	3	2	HBB	5204572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.277000	0.33167	2.812000	0.96745	0.555000	0.69702	TTC		0.517	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518	
HBD	3045	broad.mit.edu	37	11	5255410	5255410	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5255410G>T	ENST00000380299.3	-	2	340	c.126C>A	c.(124-126)ttC>ttA	p.F42L	HBD_ENST00000292901.3_Missense_Mutation_p.F42L	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	42					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.F42L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACTCAAAGAACCTCTGGG	0.517																																					p.F42L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C126A	11						.						106.0	103.0	104.0					11																	5255410		2201	4298	6499	5211986	SO:0001583	missense	3045	exon2			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.126C>A	11.37:g.5255410G>T	ENSP00000369654:p.Phe42Leu		5211986	NM_000519	Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080423	0.76528	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.91631	-2.88;-2.88;-2.88	4.45	3.53	0.40419	Globin-like (1);Globin, structural domain (1);	0.107759	0.64402	D	0.000003	D	0.87744	0.6254	L	0.41415	1.275	0.35852	D	0.826835	B	0.32604	0.377	B	0.34093	0.175	D	0.90743	0.4651	10	0.72032	D	0.01	-0.071	11.8981	0.52667	0.0918:0.0:0.9082:0.0	.	42	P02042	HBD_HUMAN	L	42	ENSP00000292901:F42L;ENSP00000369654:F42L;ENSP00000393810:F42L	ENSP00000292901:F42L	F	-	3	2	HBD	5211986	1.000000	0.71417	0.918000	0.36340	0.842000	0.47809	2.126000	0.42026	2.463000	0.83235	0.585000	0.79938	TTC		0.517	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519	
OR52H1	390067	broad.mit.edu	37	11	5566716	5566716	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5566716C>T	ENST00000322653.4	-	1	63	c.38G>A	c.(37-39)aGc>aAc	p.S13N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S13N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGTAACTGCTCAGGTTGAA	0.448																																					p.S13N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G38A	11						.						94.0	91.0	92.0					11																	5566716		2201	4297	6498	5523292	SO:0001583	missense	390067	exon1			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.38G>A	11.37:g.5566716C>T	ENSP00000326259:p.Ser13Asn		5523292	NM_001005289	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925901	0.34002	.	.	ENSG00000181616	ENST00000322653	T	0.54071	0.59	5.2	3.22	0.36961	.	0.153772	0.46758	D	0.000261	T	0.44582	0.1300	L	0.49571	1.57	0.20764	N	0.99986	P	0.40660	0.726	B	0.39617	0.305	T	0.42899	-0.9424	10	0.66056	D	0.02	.	8.3065	0.32045	0.1614:0.5442:0.2944:0.0	.	13	Q8NGJ2	O52H1_HUMAN	N	13	ENSP00000326259:S13N	ENSP00000326259:S13N	S	-	2	0	OR52H1	5523292	0.001000	0.12720	0.936000	0.37596	0.686000	0.39977	0.432000	0.21461	1.206000	0.43276	-0.127000	0.14921	AGC		0.448	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289	
OR52E6	390078	broad.mit.edu	37	11	5862609	5862609	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5862609A>C	ENST00000329322.5	-	1	518	c.519T>G	c.(517-519)caT>caG	p.H173Q	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H177Q	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H177Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGATACGATGTCCACAGA	0.483																																					p.H173Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T519G	11						.						150.0	140.0	143.0					11																	5862609		2201	4296	6497	5819185	SO:0001583	missense	390078	exon1			AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.519T>G	11.37:g.5862609A>C	ENSP00000328878:p.His173Gln		5819185	NM_001005167	Q6IFF8	Missense_Mutation	SNP	ENST00000329322.5	37	CCDS53597.1	.	.	.	.	.	.	.	.	.	.	A	4.325	0.059683	0.08339	.	.	ENSG00000205409	ENST00000329322;ENST00000379946	T;T	0.36878	1.23;1.23	3.45	-5.92	0.02261	GPCR, rhodopsin-like superfamily (1);	0.207429	0.33309	N	0.005055	T	0.22898	0.0553	L	0.56280	1.765	0.09310	N	1	B	0.31227	0.314	B	0.38327	0.271	T	0.37079	-0.9721	10	0.12766	T	0.61	.	1.9219	0.03309	0.4617:0.1323:0.2722:0.1338	.	173	Q96RD3	O52E6_HUMAN	Q	173;177	ENSP00000328878:H173Q;ENSP00000369279:H177Q	ENSP00000328878:H173Q	H	-	3	2	OR52E6	5819185	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-4.489000	0.00226	-0.952000	0.03649	-0.330000	0.08379	CAT		0.483	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167	
OR52E4	390081	broad.mit.edu	37	11	5906456	5906456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:5906456G>T	ENST00000316987.2	+	1	956	c.934G>T	c.(934-936)Gaa>Taa	p.E312*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E312*(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)		TGTACAGAAAGAATAATTCTG	0.363																																					p.E312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G934T	11						.						41.0	38.0	39.0					11																	5906456		2003	4178	6181	5863032	SO:0001587	stop_gained	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.934G>T	11.37:g.5906456G>T	ENSP00000321426:p.Glu312*		5863032	NM_001005165	Q6IFG0	Nonsense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801444	0.50315	.	.	ENSG00000180974	ENST00000316987	.	.	.	5.26	2.23	0.28157	.	1.233700	0.06081	N	0.661884	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2859	0.10855	0.1806:0.0:0.4421:0.3772	.	.	.	.	X	312	.	ENSP00000321426:E312X	E	+	1	0	OR52E4	5863032	0.473000	0.25878	0.342000	0.25602	0.728000	0.41692	0.082000	0.14847	0.289000	0.22422	0.643000	0.83706	GAA		0.363	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165	
ZNF214	7761	broad.mit.edu	37	11	7021709	7021709	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:7021709C>T	ENST00000278314.4	-	3	1520	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	ZNF214_ENST00000536068.1_Missense_Mutation_p.R402Q|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	402					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.R402Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTGATGAATTCGAAGATTTGA	0.418																																					p.R402Q	Ovarian(22;251 657 736 21522 46864)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1205A	11						.						85.0	90.0	88.0					11																	7021709		2201	4296	6497	6978285	SO:0001583	missense	7761	exon3			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1205G>A	11.37:g.7021709C>T	ENSP00000278314:p.Arg402Gln		6978285	NM_013249	B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928703	0.18131	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.35973	1.28;1.28	3.75	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259797	0.20591	N	0.089359	T	0.08670	0.0215	N	0.02169	-0.655	0.23070	N	0.998347	P	0.36465	0.554	B	0.21151	0.033	T	0.31888	-0.9927	10	0.07990	T	0.79	.	6.9138	0.24349	0.0:0.7164:0.1793:0.1042	.	402	Q9UL59	ZN214_HUMAN	Q	402	ENSP00000278314:R402Q;ENSP00000445373:R402Q	ENSP00000278314:R402Q	R	-	2	0	ZNF214	6978285	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.205000	0.09411	0.529000	0.28599	0.655000	0.94253	CGA		0.418	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1		
SCUBE2	57758	broad.mit.edu	37	11	9069061	9069061	+	Missense_Mutation	SNP	C	C	T	rs144080898	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:9069061C>T	ENST00000309263.3	-	15	1829	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	SCUBE2_ENST00000450649.2_Missense_Mutation_p.R460H|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R615H|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R615H|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	586						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R586H(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)		GATGGCTTTACGGAGCCGCTT	0.567																																					p.R615H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1844A	11						.	C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	82.0	68.0	73.0		1379,1844	5.2	1.0	11	dbSNP_134	73	2,8590	3.0+/-9.4	0,2,4294	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	29,29	0,3,6494	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	460/808,615/972	9069061	3,12991	2201	4296	6497	9025637	SO:0001583	missense	57758	exon16			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.1757G>A	11.37:g.9069061C>T	ENSP00000310658:p.Arg586His		9025637	NM_020974	Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	ENST00000309263.3	37		.	.	.	.	.	.	.	.	.	.	C	25.4	4.630560	0.87660	2.27E-4	2.33E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;D	0.84589	-1.3;-1.41;-1.87;-1.51	5.21	5.21	0.72293	.	0.048843	0.85682	D	0.000000	D	0.91355	0.7273	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;P	0.66196	0.942;0.933;0.818	D	0.91946	0.5567	10	0.72032	D	0.01	.	19.1303	0.93402	0.0:1.0:0.0:0.0	.	460;615;586	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	H	615;586;460;615	ENSP00000390481:R615H;ENSP00000310658:R586H;ENSP00000415187:R460H;ENSP00000429969:R615H	ENSP00000310658:R586H	R	-	2	0	SCUBE2	9025637	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.890000	0.69774	2.603000	0.88011	0.655000	0.94253	CGT		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
PDE3B	5140	broad.mit.edu	37	11	14882859	14882859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:14882859C>T	ENST00000282096.4	+	14	3186	c.2833C>T	c.(2833-2835)Cga>Tga	p.R945*	PDE3B_ENST00000455098.2_Nonsense_Mutation_p.R894*	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	945	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.R945*(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGCAAAAGTTCGAGACTTGCA	0.403																																					p.R945X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2833T	11						.						128.0	124.0	125.0					11																	14882859		2200	4294	6494	14839435	SO:0001587	stop_gained	5140	exon14			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2833C>T	11.37:g.14882859C>T	ENSP00000282096:p.Arg945*		14839435	NM_000922	B7ZM37|O00639|Q14408|Q6SEI4	Nonsense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	41	9.010505	0.99035	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	.	.	.	5.32	5.32	0.75619	.	0.193215	0.45361	D	0.000373	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8378	0.63419	0.1912:0.8088:0.0:0.0	.	.	.	.	X	945;894	.	ENSP00000282096:R945X	R	+	1	2	PDE3B	14839435	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.747000	0.55134	2.477000	0.83638	0.591000	0.81541	CGA		0.403	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
SOX6	55553	broad.mit.edu	37	11	16071447	16071447	+	Missense_Mutation	SNP	C	C	T	rs563514211		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:16071447C>T	ENST00000352083.6	-	11	1366	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	SOX6_ENST00000396356.3_Missense_Mutation_p.R430Q|SOX6_ENST00000528429.1_Missense_Mutation_p.R430Q|SOX6_ENST00000528252.1_Missense_Mutation_p.R389Q|SOX6_ENST00000527619.1_Missense_Mutation_p.R392Q|SOX6_ENST00000316399.6_Missense_Mutation_p.R430Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	430					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R430P(1)|p.R430Q(1)|p.R392P(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TGTCTTGGGTCGGGATGAGAG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		16822	0.0		0.0	False		,,,				2504	0.001				p.R430Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G1289A	11						.						207.0	215.0	213.0					11																	16071447		2200	4294	6494	16028023	SO:0001583	missense	55553	exon11			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1289G>A	11.37:g.16071447C>T	ENSP00000339876:p.Arg430Gln		16028023	NM_033326	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37		.	.	.	.	.	.	.	.	.	.	C	33	5.259369	0.95368	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98105	-4.63;-4.67;-4.63;-4.72;-4.72;-4.67	6.01	6.01	0.97437	.	0.124998	0.56097	D	0.000037	D	0.98169	0.9395	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.991	P;P;P	0.61397	0.888;0.767;0.585	D	0.97842	1.0269	10	0.44086	T	0.13	.	20.5211	0.99222	0.0:1.0:0.0:0.0	.	430;430;392	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	Q	430;430;430;389;392;430	ENSP00000324948:R430Q;ENSP00000339876:R430Q;ENSP00000379644:R430Q;ENSP00000432134:R389Q;ENSP00000434455:R392Q;ENSP00000433233:R430Q	ENSP00000324948:R430Q	R	-	2	0	SOX6	16028023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.861000	0.98227	0.650000	0.86243	CGA		0.458	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
ABCC8	6833	broad.mit.edu	37	11	17426076	17426076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:17426076G>T	ENST00000389817.3	-	28	3608	c.3540C>A	c.(3538-3540)taC>taA	p.Y1180*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.Y1181*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1180	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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.Y1180*(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)	CCACCCGGAAGTACTTCTGGA	0.562																																					p.Y1180X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3540A	11						.						97.0	79.0	85.0					11																	17426076		2200	4293	6493	17382652	SO:0001587	stop_gained	6833	exon28			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.3540C>A	11.37:g.17426076G>T	ENSP00000374467:p.Tyr1180*		17382652	NM_000352	A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.223406|6.223406	0.97390|0.97390	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000528374|ENST00000389817;ENST00000302539	.|.	.|.	.|.	5.32|5.32	4.41|4.41	0.53225|0.53225	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32285|.	0.0824|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35425|.	-0.9789|.	3|.	.|0.02654	.|T	.|1	.|.	12.107|12.107	0.53818|0.53818	0.1433:0.0:0.8567:0.0|0.1433:0.0:0.8567:0.0	.|.	.|.	.|.	.|.	I|X	4|1180;1181	.|.	.|ENSP00000303960:Y1181X	L|Y	-|-	1|3	0|2	ABCC8|ABCC8	17382652|17382652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.171000|4.171000	0.58236|0.58236	1.233000|1.233000	0.43693|0.43693	0.514000|0.514000	0.50259|0.50259	CTT|TAC		0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352	
KCNC1	3746	broad.mit.edu	37	11	17757864	17757864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:17757864C>A	ENST00000379472.3	+	1	345	c.315C>A	c.(313-315)tgC>tgA	p.C105*	KCNC1_ENST00000265969.6_Nonsense_Mutation_p.C105*	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	105					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.C105*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	AGCCCTGCTGCTGGATGACGT	0.711																																					p.C105X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C315A	11						.						34.0	36.0	36.0					11																	17757864		2200	4292	6492	17714440	SO:0001587	stop_gained	3746	exon1			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.315C>A	11.37:g.17757864C>A	ENSP00000368785:p.Cys105*		17714440	NM_004976	K4DI87	Nonsense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	37	6.333994	0.97485	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	.	.	.	5.09	3.21	0.36854	.	0.090440	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6117	0.39668	0.0:0.711:0.0:0.289	.	.	.	.	X	105	.	ENSP00000265969:C105X	C	+	3	2	KCNC1	17714440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.160000	0.31761	0.544000	0.28883	0.491000	0.48974	TGC		0.711	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
MRGPRX4	117196	broad.mit.edu	37	11	18195536	18195536	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:18195536A>G	ENST00000314254.3	+	1	1153	c.733A>G	c.(733-735)Aat>Gat	p.N245D	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	245			N -> S (in dbSNP:rs7102322).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N245D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GATGCACCTGAATTTGGAAGT	0.507																																					p.N245D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A733G	11						.						131.0	121.0	124.0					11																	18195536		2199	4293	6492	18152112	SO:0001583	missense	117196	exon1			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.733A>G	11.37:g.18195536A>G	ENSP00000314042:p.Asn245Asp		18152112	NM_054032	Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	A	0.704	-0.789660	0.02884	.	.	ENSG00000179817	ENST00000314254	T	0.72505	-0.66	2.85	-5.7	0.02421	GPCR, rhodopsin-like superfamily (1);	2.904660	0.00848	N	0.001818	T	0.41003	0.1140	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42241	-0.9463	10	0.34782	T	0.22	.	5.3823	0.16197	0.4452:0.0:0.1245:0.4303	.	245	Q96LA9	MRGX4_HUMAN	D	245	ENSP00000314042:N245D	ENSP00000314042:N245D	N	+	1	0	MRGPRX4	18152112	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.126000	0.01316	-2.647000	0.00426	-2.775000	0.00119	AAT		0.507	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032	
LDHA	3939	broad.mit.edu	37	11	18421014	18421014	+	Missense_Mutation	SNP	G	G	A	rs144856598		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:18421014G>A	ENST00000422447.3	+	3	436	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	LDHA_ENST00000540430.1_Missense_Mutation_p.E84K|LDHA_ENST00000542179.1_Missense_Mutation_p.E55K|LDHA_ENST00000379412.5_Missense_Mutation_p.E55K|LDHA_ENST00000227157.4_Missense_Mutation_p.E55K|LDHA_ENST00000430553.2_Missense_Mutation_p.E55K|LDHA_ENST00000396222.2_Missense_Mutation_p.E55K	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	55					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)	p.E55K(1)|p.E84K(1)		central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TGATGTCATCGAAGACAAATT	0.378																																					p.E55K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G163A	11						.	G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4398		0,0,2199	137.0	125.0	129.0		163,250,163,163,163	5.0	1.0	11	dbSNP_134	129	1,8585	1.2+/-3.3	0,1,4292	no	missense,missense,missense,missense,missense	LDHA	NM_001135239.1,NM_001165414.1,NM_001165415.1,NM_001165416.1,NM_005566.3	56,56,56,56,56	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	55/275,84/362,55/275,55/242,55/333	18421014	1,12983	2199	4293	6492	18377590	SO:0001583	missense	3939	exon3			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.163G>A	11.37:g.18421014G>A	ENSP00000395337:p.Glu55Lys		18377590	NM_001135239	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566295	0.86439	0.0	1.16E-4	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000535451;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	L	0.46819	1.47	0.80722	D	1	B;B;B;B	0.25719	0.002;0.132;0.019;0.004	B;B;B;B	0.29524	0.01;0.103;0.02;0.005	T	0.80792	-0.1224	10	0.33940	T	0.23	-2.5971	18.9079	0.92471	0.0:0.0:1.0:0.0	.	84;55;55;55	B7Z5E3;B4DKQ2;F8W819;P00338	.;.;.;LDHA_HUMAN	K	55;55;55;55;55;55;55;55;84;55;55	ENSP00000395337:E55K;ENSP00000440161:E55K;ENSP00000406172:E55K;ENSP00000379524:E55K;ENSP00000444292:E55K;ENSP00000227157:E55K;ENSP00000441241:E55K;ENSP00000446415:E55K;ENSP00000445175:E84K;ENSP00000368722:E55K;ENSP00000445331:E55K	ENSP00000227157:E55K	E	+	1	0	LDHA	18377590	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	9.490000	0.97952	2.768000	0.95171	0.655000	0.94253	GAA		0.378	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
ANO5	203859	broad.mit.edu	37	11	22242678	22242678	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:22242678C>T	ENST00000324559.8	+	5	533	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	72					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F72F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCTATCTTCTTCCGAGATG	0.343																																					p.F71F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	11						.						95.0	92.0	93.0					11																	22242678		2203	4300	6503	22199254	SO:0001819	synonymous_variant	203859	exon5			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.216C>T	11.37:g.22242678C>T			22199254	NM_001142649		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.343	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
ANO3	63982	broad.mit.edu	37	11	26621243	26621243	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:26621243C>A	ENST00000256737.3	+	17	2670	c.1818C>A	c.(1816-1818)atC>atA	p.I606I	ANO3_ENST00000537978.1_Silent_p.I590I|ANO3_ENST00000531568.1_Silent_p.I460I|ANO3_ENST00000525139.1_Silent_p.I590I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	606					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.I606I(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						ATTTCATAATCATTATGTTGC	0.358																																					p.I606I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1818A	11						.						161.0	143.0	149.0					11																	26621243		2203	4299	6502	26577819	SO:0001819	synonymous_variant	63982	exon17			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.1818C>A	11.37:g.26621243C>A			26577819	NM_031418	B7Z3F5	Silent	SNP	ENST00000256737.3	37	CCDS31447.1																																																																																				0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
ANO3	63982	broad.mit.edu	37	11	26660771	26660771	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:26660771C>A	ENST00000256737.3	+	21	2976	c.2124C>A	c.(2122-2124)ttC>ttA	p.F708L	ANO3_ENST00000537978.1_Missense_Mutation_p.F692L|ANO3_ENST00000531568.1_Missense_Mutation_p.F562L|ANO3_ENST00000525139.1_Missense_Mutation_p.F692L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	708					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.F708L(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						GGAACAACTTCATGGAACTAG	0.408																																					p.F708L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2124A	11						.						159.0	136.0	143.0					11																	26660771		2203	4299	6502	26617347	SO:0001583	missense	63982	exon21			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.2124C>A	11.37:g.26660771C>A	ENSP00000256737:p.Phe708Leu		26617347	NM_031418	B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.921147	0.52653	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.39	1.41	0.22369	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	L	0.31526	0.94	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.49922	0.542;0.626	T	0.34875	-0.9811	10	0.30078	T	0.28	.	10.5846	0.45275	0.0:0.6052:0.0:0.3948	.	610;708	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	L	692;692;708;610;562	ENSP00000440737:F692L;ENSP00000432576:F692L;ENSP00000256737:F708L;ENSP00000432394:F562L	ENSP00000256737:F708L	F	+	3	2	ANO3	26617347	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.726000	0.25984	0.263000	0.21812	0.467000	0.42956	TTC		0.408	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418	
BBOX1	8424	broad.mit.edu	37	11	27147226	27147226	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:27147226C>T	ENST00000529202.1	+	7	1201	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R288C|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.R288C|BBOX1_ENST00000528583.1_Missense_Mutation_p.R288C			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	288					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.R288C(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ccaagtggttcgcatcaactt	0.333																																					p.R288C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C862T	11						.						84.0	69.0	74.0					11																	27147226		2198	4298	6496	27103802	SO:0001583	missense	8424	exon8			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.862C>T	11.37:g.27147226C>T	ENSP00000435781:p.Arg288Cys		27103802	NM_003986	B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144372	0.77888	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	6.03	6.03	0.97812	.	0.102971	0.64402	D	0.000003	D	0.91489	0.7313	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90723	0.4636	10	0.51188	T	0.08	.	19.1304	0.93404	0.0:1.0:0.0:0.0	.	288	O75936	BODG_HUMAN	C	288	ENSP00000435781:R288C;ENSP00000263182:R288C;ENSP00000434918:R288C;ENSP00000433772:R288C	ENSP00000263182:R288C	R	+	1	0	BBOX1	27103802	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.583000	0.60964	2.854000	0.98071	0.655000	0.94253	CGC		0.333	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986	
LGR4	55366	broad.mit.edu	37	11	27390235	27390235	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:27390235A>C	ENST00000379214.4	-	18	2478	c.2035T>G	c.(2035-2037)Ttt>Gtt	p.F679V	LGR4_ENST00000389858.4_Missense_Mutation_p.F655V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	679					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.F679V(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAAGGGGAAAACAGCCTGCT	0.438																																					p.F679V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2035G	11						.						93.0	84.0	87.0					11																	27390235		2202	4299	6501	27346811	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.2035T>G	11.37:g.27390235A>C	ENSP00000368516:p.Phe679Val		27346811	NM_018490	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	ENST00000379214.4	37	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	A	9.666	1.145308	0.21288	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.71103	-0.54;1.31	5.72	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.306103	0.34223	N	0.004148	T	0.43787	0.1263	N	0.03608	-0.345	0.80722	D	1	B;B	0.20671	0.002;0.047	B;B	0.28465	0.003;0.09	T	0.13656	-1.0501	10	0.39692	T	0.17	.	5.6485	0.17602	0.6638:0.1314:0.2048:0.0	.	655;679	G5E9B3;Q9BXB1	.;LGR4_HUMAN	V	679;655	ENSP00000368516:F679V;ENSP00000374508:F655V	ENSP00000368516:F679V	F	-	1	0	LGR4	27346811	1.000000	0.71417	0.899000	0.35326	0.711000	0.40976	3.237000	0.51344	0.411000	0.25702	0.528000	0.53228	TTT		0.438	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	
KCNA4	3739	broad.mit.edu	37	11	30033975	30033975	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:30033975C>A	ENST00000328224.6	-	2	1484	c.251G>T	c.(250-252)aGg>aTg	p.R84M	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	84				RRRRQ -> EEEAT (in Ref. 1; AAA60034). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R84M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCGCCTCCTCCTCCGACTACC	0.632																																					p.R84M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251T	11						.						44.0	46.0	45.0					11																	30033975		2048	4198	6246	29990551	SO:0001583	missense	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.251G>T	11.37:g.30033975C>A	ENSP00000328511:p.Arg84Met		29990551	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683566	0.29872	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	4.84	0.62591	.	8.526260	0.00751	U	0.001060	D	0.93151	0.7819	N	0.19112	0.55	0.39860	D	0.973361	P	0.39964	0.697	B	0.29353	0.101	T	0.79217	-0.1894	10	0.48119	T	0.1	.	17.9672	0.89102	0.0:1.0:0.0:0.0	.	84	P22459	KCNA4_HUMAN	M	84	ENSP00000328511:R84M	ENSP00000328511:R84M	R	-	2	0	KCNA4	29990551	0.507000	0.26146	0.783000	0.31826	0.092000	0.18411	1.521000	0.35910	2.239000	0.73571	0.561000	0.74099	AGG		0.632	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
FSHB	2488	broad.mit.edu	37	11	30255342	30255342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:30255342G>T	ENST00000417547.1	+	3	424	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FSHB_ENST00000533718.1_Nonsense_Mutation_p.E129*|FSHB_ENST00000254122.3_Nonsense_Mutation_p.E129*	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	129					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)	p.E129*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						TGAAATGAAAGAATAAAGATC	0.507																																					p.E129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G385T	11						.						46.0	43.0	44.0					11																	30255342		2202	4299	6501	30211918	SO:0001587	stop_gained	2488	exon3				CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.385G>T	11.37:g.30255342G>T	ENSP00000416606:p.Glu129*		30211918	NM_000510	A2TF08|A5JVV3|Q14D61	Nonsense_Mutation	SNP	ENST00000417547.1	37	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641414	0.47153	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	.	.	.	5.65	3.7	0.42460	.	0.335594	0.30277	N	0.009987	.	.	.	.	.	.	0.28739	N	0.902051	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.484	0.22079	0.074:0.1281:0.6652:0.1328	.	.	.	.	X	129	.	ENSP00000254122:E129X	E	+	1	0	FSHB	30211918	0.789000	0.28775	0.705000	0.30386	0.289000	0.27227	2.724000	0.47285	0.854000	0.35336	-0.345000	0.07892	GAA		0.507	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510	
MPPED2	744	broad.mit.edu	37	11	30516889	30516889	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:30516889C>T	ENST00000358117.5	-	3	612	c.490G>A	c.(490-492)Gat>Aat	p.D164N	MPPED2_ENST00000448418.2_Missense_Mutation_p.D164N	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	164					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D164N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ACCTCCGAATCTTGTAAGTAA	0.413																																					p.D164N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	11						.						141.0	128.0	132.0					11																	30516889		2202	4299	6501	30473465	SO:0001583	missense	744	exon3			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.490G>A	11.37:g.30516889C>T	ENSP00000350833:p.Asp164Asn		30473465	NM_001584	D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112515	0.94339	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.43294	0.95;0.95	5.61	5.61	0.85477	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.61899	0.2384	L	0.53561	1.675	0.80722	D	1	D;P	0.89917	1.0;0.903	D;P	0.97110	1.0;0.724	T	0.56189	-0.8020	10	0.36615	T	0.2	-11.8404	19.6426	0.95764	0.0:1.0:0.0:0.0	.	164;164	Q15777;E9PB10	MPPD2_HUMAN;.	N	164	ENSP00000388258:D164N;ENSP00000350833:D164N	ENSP00000350833:D164N	D	-	1	0	MPPED2	30473465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.650000	0.89964	0.655000	0.94253	GAT		0.413	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584	
KIAA1549L	25758	broad.mit.edu	37	11	33628362	33628362	+	Silent	SNP	C	C	T	rs375293606		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:33628362C>T	ENST00000321505.4	+	13	4344	c.4164C>T	c.(4162-4164)aaC>aaT	p.N1388N	KIAA1549L_ENST00000389726.3_Silent_p.N1394N			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1388						integral component of membrane (GO:0016021)		p.N1388N(1)									CAGTCCTCAACGGCGAGGTAA	0.587													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17845	0.0		0.0	False		,,,				2504	0.0				p.N1388N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4164T	11						.	C		5,4069		0,5,2032	20.0	22.0	21.0		4164	-6.9	0.9	11		21	1,8395		0,1,4197	no	coding-synonymous	C11orf41	NM_012194.2		0,6,6229	TT,TC,CC		0.0119,0.1227,0.0481		1388/1850	33628362	6,12464	2037	4198	6235	33584938	SO:0001819	synonymous_variant	25758	exon13			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.4164C>T	11.37:g.33628362C>T			33584938	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	4.733	0.136376	0.09032	0.001227	1.19E-4	ENSG00000110427	ENST00000526400	.	.	.	5.42	-6.9	0.01655	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63350	-0.6657	4	.	.	.	-17.5858	13.4248	0.61020	0.0:0.486:0.0:0.514	.	.	.	.	M	786	.	.	T	+	2	0	C11orf41	33584938	0.001000	0.12720	0.917000	0.36280	0.325000	0.28411	-2.225000	0.01212	-1.148000	0.02847	-0.263000	0.10527	ACG		0.587	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
ELF5	2001	broad.mit.edu	37	11	34502479	34502479	+	Missense_Mutation	SNP	C	C	T	rs143609015		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:34502479C>T	ENST00000312319.2	-	6	770	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ELF5_ENST00000528709.1_5'Flank|ELF5_ENST00000429939.2_Missense_Mutation_p.D76N|ELF5_ENST00000257832.2_Missense_Mutation_p.D171N	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	181					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D181N(1)		large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				AGAAGCAGGTCTCGTACAAAT	0.358																																					p.D171N	Melanoma(61;202 1660 4348 21594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	11						.						76.0	76.0	76.0					11																	34502479		2202	4298	6500	34459055	SO:0001583	missense	2001	exon6			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.541G>A	11.37:g.34502479C>T	ENSP00000311010:p.Asp181Asn		34459055	NM_001422	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Missense_Mutation	SNP	ENST00000312319.2	37	CCDS7892.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265338	0.95399	.	.	ENSG00000135374	ENST00000257832;ENST00000312319;ENST00000429939	T;T;T	0.14266	2.52;2.52;2.52	5.7	5.7	0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.68728	2.09	0.80722	D	1	P;D	0.76494	0.859;0.999	P;D	0.85130	0.842;0.997	T	0.07597	-1.0764	10	0.87932	D	0	.	19.4287	0.94755	0.0:1.0:0.0:0.0	.	76;181	A6XAE6;Q9UKW6	.;ELF5_HUMAN	N	171;181;76	ENSP00000257832:D171N;ENSP00000311010:D181N;ENSP00000407589:D76N	ENSP00000257832:D171N	D	-	1	0	ELF5	34459055	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	4.985000	0.63845	2.701000	0.92244	0.561000	0.74099	GAC		0.358	ELF5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389845.1	NM_198381	
TRIM44	54765	broad.mit.edu	37	11	35756977	35756977	+	Missense_Mutation	SNP	G	G	A	rs181043254	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:35756977G>A	ENST00000299413.5	+	4	1298	c.991G>A	c.(991-993)Gat>Aat	p.D331N	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	331						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D331N(2)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				CTTTCAGGGCGATGAGGAAGG	0.413													G|||	4	0.000798722	0.0	0.0014	5008	,	,		21483	0.0		0.0	False		,,,				2504	0.0031				p.D331N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G991A	11						.						242.0	207.0	219.0					11																	35756977		2202	4298	6500	35713553	SO:0001583	missense	54765	exon4			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.991G>A	11.37:g.35756977G>A	ENSP00000299413:p.Asp331Asn		35713553	NM_017583	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.71	1.720728	0.30503	.	.	ENSG00000166326	ENST00000299413	T	0.31510	1.49	5.56	4.42	0.53409	.	0.000000	0.39274	N	0.001407	T	0.15046	0.0363	N	0.08118	0	0.26488	N	0.974988	D	0.61697	0.99	B	0.44315	0.446	T	0.07501	-1.0769	10	0.25106	T	0.35	-25.2742	7.1628	0.25672	0.1445:0.0:0.8555:0.0	.	331	Q96DX7	TRI44_HUMAN	N	331	ENSP00000299413:D331N	ENSP00000299413:D331N	D	+	1	0	TRIM44	35713553	0.606000	0.26949	0.996000	0.52242	0.992000	0.81027	1.016000	0.29976	2.774000	0.95407	0.650000	0.86243	GAT		0.413	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
RAG1	5896	broad.mit.edu	37	11	36595001	36595001	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:36595001G>T	ENST00000299440.5	+	2	259	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	49	Interaction with importin alpha-1.				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.K49N(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)				AAAAGGAAAAGAAGGATTCCT	0.438									Familial Hemophagocytic Lymphohistiocytosis																												p.K49N	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	11						.						53.0	59.0	57.0					11																	36595001		2202	4298	6500	36551577	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.147G>T	11.37:g.36595001G>T	ENSP00000299440:p.Lys49Asn		36551577	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.969489	0.00457	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.71341	-0.56;-0.55	6.14	0.515	0.17013	.	0.397398	0.26556	N	0.023708	T	0.37865	0.1019	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20739	-1.0266	10	0.02654	T	1	.	1.5773	0.02627	0.2031:0.1222:0.403:0.2717	.	49	P15918	RAG1_HUMAN	N	49	ENSP00000434610:K49N;ENSP00000299440:K49N	ENSP00000299440:K49N	K	+	3	2	RAG1	36551577	0.991000	0.36638	0.838000	0.33150	0.181000	0.23173	0.231000	0.17872	0.184000	0.20083	-0.188000	0.12872	AAG		0.438	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
RAG1	5896	broad.mit.edu	37	11	36597747	36597747	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:36597747G>T	ENST00000299440.5	+	2	3005	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	965					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.E965*(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)				TGAGGGAAATGAGTCTGGTAA	0.458									Familial Hemophagocytic Lymphohistiocytosis																												p.E965X	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2893T	11						.						98.0	104.0	102.0					11																	36597747		2202	4298	6500	36554323	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.2893G>T	11.37:g.36597747G>T	ENSP00000299440:p.Glu965*		36554323	NM_000448	E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	39	7.726346	0.98456	.	.	ENSG00000166349	ENST00000299440	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1028	0.97881	0.0:0.0:1.0:0.0	.	.	.	.	X	965	.	.	E	+	1	0	RAG1	36554323	1.000000	0.71417	0.699000	0.30290	0.984000	0.73092	9.420000	0.97426	2.827000	0.97445	0.644000	0.83932	GAG		0.458	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
LRRC4C	57689	broad.mit.edu	37	11	40136759	40136759	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:40136759C>A	ENST00000278198.2	-	2	3047	c.1084G>T	c.(1084-1086)Gac>Tac	p.D362Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D362Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D362Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D362Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	362	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.D362Y(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACATTGAGGTCTGCAGGGGGC	0.512																																					p.D362Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084T	11						.						88.0	78.0	81.0					11																	40136759		2203	4300	6503	40093335	SO:0001583	missense	57689	exon2			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1084G>T	11.37:g.40136759C>A	ENSP00000278198:p.Asp362Tyr		40093335	NM_020929	A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158854	0.57368	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.58148	-0.7687	10	0.66056	D	0.02	.	18.9424	0.92610	0.0:1.0:0.0:0.0	.	362	Q9HCJ2	LRC4C_HUMAN	Y	362	ENSP00000278198:D362Y;ENSP00000436976:D362Y;ENSP00000437132:D362Y;ENSP00000434761:D362Y	ENSP00000278198:D362Y	D	-	1	0	LRRC4C	40093335	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.754000	0.85163	2.728000	0.93425	0.650000	0.86243	GAC		0.512	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
ACCSL	390110	broad.mit.edu	37	11	44069663	44069663	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:44069663A>G	ENST00000378832.1	+	1	133	c.77A>G	c.(76-78)tAt>tGt	p.Y26C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	26					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)	p.Y26C(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CACAGCATCTATACCCAGCTG	0.592																																					p.Y26C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A77G	11						.						48.0	53.0	52.0					11																	44069663		2032	4196	6228	44026239	SO:0001583	missense	390110	exon1				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.77A>G	11.37:g.44069663A>G	ENSP00000368109:p.Tyr26Cys		44026239	NM_001031854		Missense_Mutation	SNP	ENST00000378832.1	37	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	A	4.406	0.075086	0.08485	.	.	ENSG00000205126	ENST00000378832	T	0.69175	-0.38	3.27	-2.63	0.06133	.	2.160190	0.02287	N	0.069959	T	0.53270	0.1786	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17349	-1.0372	10	0.34782	T	0.22	-0.5717	3.1011	0.06327	0.3103:0.0:0.3352:0.3545	.	26	Q4AC99	1A1L2_HUMAN	C	26	ENSP00000368109:Y26C	ENSP00000368109:Y26C	Y	+	2	0	ACCSL	44026239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	-0.534000	0.06315	-0.376000	0.06991	TAT		0.592	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854	
CHST1	8534	broad.mit.edu	37	11	45671729	45671729	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:45671729C>T	ENST00000308064.2	-	4	1415	c.745G>A	c.(745-747)Gac>Aac	p.D249N	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	249					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.D249N(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGGTACGTGTCGCGGAAGGTC	0.647																																					p.D249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	11						.						63.0	57.0	59.0					11																	45671729		2203	4299	6502	45628305	SO:0001583	missense	8534	exon4			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.745G>A	11.37:g.45671729C>T	ENSP00000309270:p.Asp249Asn		45628305	NM_003654	D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491132	0.64074	.	.	ENSG00000175264	ENST00000308064	D	0.81579	-1.51	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.81239	2.535	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	D	0.86997	0.2114	10	0.20046	T	0.44	-15.1298	18.0436	0.89326	0.0:1.0:0.0:0.0	.	249	O43916	CHST1_HUMAN	N	249	ENSP00000309270:D249N	ENSP00000309270:D249N	D	-	1	0	CHST1	45628305	1.000000	0.71417	0.955000	0.39395	0.914000	0.54420	7.810000	0.86072	2.252000	0.74401	0.462000	0.41574	GAC		0.647	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
PHF21A	51317	broad.mit.edu	37	11	45957274	45957274	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:45957274T>C	ENST00000418153.2	-	17	1897	c.1698A>G	c.(1696-1698)aaA>aaG	p.K566K	PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000257821.4_Silent_p.K567K|PHF21A_ENST00000323180.6_Silent_p.K520K			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	566	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K520K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTAACTTCTGTTTCTCTTCTT	0.328																																					p.K566K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1698G	11						.						213.0	181.0	191.0					11																	45957274		2201	4298	6499	45913850	SO:0001819	synonymous_variant	51317	exon17			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1698A>G	11.37:g.45957274T>C			45913850	NM_001101802	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	T	8.271	0.813279	0.16537	.	.	ENSG00000135365	ENST00000525676	.	.	.	4.97	1.4	0.22301	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46317	-0.9200	4	.	.	.	-8.4369	7.8133	0.29243	0.0:0.3204:0.0:0.6796	.	.	.	.	A	11	.	.	T	-	1	0	PHF21A	45913850	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	0.542000	0.23222	0.340000	0.23745	0.460000	0.39030	ACA		0.328	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
PHF21A	51317	broad.mit.edu	37	11	45958052	45958052	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:45958052G>A	ENST00000418153.2	-	16	1873	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y	PHF21A_ENST00000527753.1_5'Flank|PHF21A_ENST00000257821.4_Silent_p.Y559Y|PHF21A_ENST00000323180.6_Silent_p.Y512Y			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	558	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y512Y(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TACCTGCTTTGTAGGCAATAT	0.343																																					p.Y558Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1674T	11						.						120.0	118.0	119.0					11																	45958052		2202	4299	6501	45914628	SO:0001819	synonymous_variant	51317	exon16			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1674C>T	11.37:g.45958052G>A			45914628	NM_001101802	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	ENST00000418153.2	37	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895664	0.17686	.	.	ENSG00000135365	ENST00000525676	.	.	.	5.74	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.8481	8.7232	0.34454	0.3041:0.0:0.6959:0.0	.	.	.	.	X	3	.	.	Q	-	1	0	PHF21A	45914628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.893000	0.48633	0.793000	0.33875	0.563000	0.77884	CAA		0.343	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	
DDB2	1643	broad.mit.edu	37	11	47259490	47259490	+	Missense_Mutation	SNP	G	G	A	rs375649516		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:47259490G>A	ENST00000256996.4	+	8	1321	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	DDB2_ENST00000378601.3_3'UTR|ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378600.3_Missense_Mutation_p.D187N|DDB2_ENST00000378603.3_Missense_Mutation_p.D312N	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	376					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.D376N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGACGTGTTCGATGGAAACTC	0.483			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.D376N		yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	11						.	G	ASN/ASP	0,4402		0,0,2201	116.0	105.0	109.0		1126	6.1	1.0	11		109	1,8595	1.2+/-3.3	0,1,4297	no	missense	DDB2	NM_000107.2	23	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	376/428	47259490	1,12997	2201	4298	6499	47216066	SO:0001583	missense	1643	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1126G>A	11.37:g.47259490G>A	ENSP00000256996:p.Asp376Asn		47216066	NM_000107	B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458313	0.96240	0.0	1.16E-4	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600	T;T;T	0.72394	-0.58;2.2;-0.65	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84023	0.5381	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.97110	0.949;0.65;1.0	T	0.81754	-0.0788	10	0.45353	T	0.12	-6.9478	20.6634	0.99662	0.0:0.0:1.0:0.0	.	312;187;376	Q92466-4;Q92466-2;Q92466	.;.;DDB2_HUMAN	N	376;312;187	ENSP00000256996:D376N;ENSP00000367866:D312N;ENSP00000367863:D187N	ENSP00000256996:D376N	D	+	1	0	DDB2	47216066	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.259000	0.95561	2.894000	0.99253	0.655000	0.94253	GAT		0.483	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	
ACP2	53	broad.mit.edu	37	11	47267287	47267287	+	Silent	SNP	C	C	T	rs371621192		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:47267287C>T	ENST00000256997.3	-	4	512	c.396G>A	c.(394-396)ccG>ccA	p.P132P	ACP2_ENST00000533929.1_Silent_p.P104P|ACP2_ENST00000527256.1_Silent_p.P100P|ACP2_ENST00000525230.1_5'Flank|ACP2_ENST00000444355.2_Silent_p.P132P|ACP2_ENST00000530453.1_Silent_p.P132P|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.P132P	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	132					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)	p.P132P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ACGAGATGTTCGGGTTGAAGC	0.587																																					p.P132P	Melanoma(90;262 1440 11488 44828 48531)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G396A	11						.	C	,	0,4402		0,0,2201	106.0	96.0	100.0		396,396	-11.6	0.9	11		100	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ACP2	NM_001131064.1,NM_001610.2	,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,	132/161,132/424	47267287	1,12997	2201	4298	6499	47223863	SO:0001819	synonymous_variant	53	exon4			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.396G>A	11.37:g.47267287C>T			47223863	NM_001131064	E9PCI1|Q561W5|Q9BTU7	Silent	SNP	ENST00000256997.3	37	CCDS7928.1																																																																																				0.587	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610	
NUP160	23279	broad.mit.edu	37	11	47833757	47833757	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:47833757T>G	ENST00000378460.2	-	17	2146	c.2100A>C	c.(2098-2100)cgA>cgC	p.R700R	NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000528071.1_Silent_p.R586R|NUP160_ENST00000530326.1_Silent_p.R586R|NUP160_ENST00000531016.1_5'Flank	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	700					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)|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)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.R700R(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TAAGATTCATTCGAATATTCA	0.403																																					p.R700R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2100C	11						.						127.0	119.0	122.0					11																	47833757		2201	4298	6499	47790333	SO:0001819	synonymous_variant	23279	exon17			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2100A>C	11.37:g.47833757T>G			47790333	NM_015231	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	CCDS31484.1																																																																																				0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231	
OR4X1	390113	broad.mit.edu	37	11	48285616	48285616	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:48285616G>T	ENST00000320048.1	+	1	204	c.204G>T	c.(202-204)gaG>gaT	p.E68D		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E68D(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCTTTGTGGAGATCTGCTACT	0.488																																					p.E68D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G204T	11						.						138.0	127.0	131.0					11																	48285616		2201	4298	6499	48242192	SO:0001583	missense	390113	exon1			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.204G>T	11.37:g.48285616G>T	ENSP00000321506:p.Glu68Asp		48242192	NM_001004726	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	G	0.428	-0.904826	0.02453	.	.	ENSG00000176567	ENST00000320048	T	0.00008	9.61	4.29	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00138	-2.015	0.09310	N	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.58098	-0.7696	9	0.02654	T	1	.	4.857	0.13564	0.1136:0.0:0.6755:0.2109	.	68	Q8NH49	OR4X1_HUMAN	D	68	ENSP00000321506:E68D	ENSP00000321506:E68D	E	+	3	2	OR4X1	48242192	0.000000	0.05858	0.998000	0.56505	0.161000	0.22273	-1.634000	0.02020	1.106000	0.41623	0.563000	0.77884	GAG		0.488	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
OR4C46	119749	broad.mit.edu	37	11	51516025	51516025	+	Missense_Mutation	SNP	C	C	A	rs140563000	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:51516025C>A	ENST00000328188.1	+	1	744	c.744C>A	c.(742-744)ttC>ttA	p.F248L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F248L(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATCTTATTCTTTGTGCCCT	0.443																																					p.F248L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C744A	11						.	C	LEU/PHE	0,4402		0,0,2201	125.0	105.0	112.0		744	0.4	0.6	11	dbSNP_134	112	4,8588		0,4,4292	no	missense	OR4C46	NM_001004703.1	22	0,4,6493	AA,AC,CC		0.0466,0.0,0.0308	benign	248/310	51516025	4,12990	2201	4296	6497	51372601	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.744C>A	11.37:g.51516025C>A	ENSP00000329056:p.Phe248Leu		51372601	NM_001004703		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	5.295	0.239876	0.10023	0.0	4.66E-4	ENSG00000185926	ENST00000328188	T	0.00285	8.3	2.47	0.404	0.16355	GPCR, rhodopsin-like superfamily (1);	0.142736	0.32533	N	0.005977	T	0.00271	0.0008	M	0.79258	2.445	0.23411	N	0.997734	B	0.18610	0.029	B	0.27887	0.084	T	0.45160	-0.9280	10	0.72032	D	0.01	.	5.0307	0.14407	0.0:0.4987:0.0:0.5013	.	248	A6NHA9	O4C46_HUMAN	L	248	ENSP00000329056:F248L	ENSP00000329056:F248L	F	+	3	2	OR4C46	51372601	0.000000	0.05858	0.633000	0.29310	0.078000	0.17371	-1.819000	0.01716	-0.009000	0.14296	0.121000	0.15741	TTC		0.443	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4A16	81327	broad.mit.edu	37	11	55110920	55110920	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:55110920G>T	ENST00000314721.2	+	1	294	c.244G>T	c.(244-246)Gac>Tac	p.D82Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D82Y(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						ATTGATGATAGACTTACTCTG	0.458																																					p.D82Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244T	11						.						203.0	183.0	190.0					11																	55110920		2201	4296	6497	54867496	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.244G>T	11.37:g.55110920G>T	ENSP00000325128:p.Asp82Tyr		54867496	NM_001005274	Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	5.658	0.306019	0.10733	.	.	ENSG00000181961	ENST00000314721	T	0.00922	5.54	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03178	0.0093	M	0.83953	2.67	0.32279	N	0.567822	B	0.32604	0.377	B	0.43658	0.426	T	0.00179	-1.1950	9	0.87932	D	0	.	10.8399	0.46708	0.0:0.0:1.0:0.0	.	82	Q8NH70	O4A16_HUMAN	Y	82	ENSP00000325128:D82Y	ENSP00000325128:D82Y	D	+	1	0	OR4A16	54867496	0.000000	0.05858	0.181000	0.23098	0.003000	0.03518	0.562000	0.23531	1.445000	0.47624	0.423000	0.28283	GAC		0.458	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
OR5F1	338674	broad.mit.edu	37	11	55762062	55762062	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:55762062G>T	ENST00000278409.1	-	1	39	c.40C>A	c.(40-42)Cta>Ata	p.L14I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	14					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.L14I(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AATCCCAATAGGACGAACTCA	0.348																																					p.L14I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40A	11						.						58.0	60.0	59.0					11																	55762062		2201	4296	6497	55518638	SO:0001583	missense	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.40C>A	11.37:g.55762062G>T	ENSP00000278409:p.Leu14Ile		55518638	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276220	0.59649	.	.	ENSG00000149133	ENST00000278409	T	0.00561	6.59	3.03	2.09	0.27110	.	.	.	.	.	T	0.00754	0.0025	M	0.79011	2.435	0.26698	N	0.971222	P	0.46395	0.877	B	0.38106	0.265	T	0.47182	-0.9137	9	0.87932	D	0	.	8.9992	0.36072	0.1189:0.0:0.8811:0.0	.	14	O95221	OR5F1_HUMAN	I	14	ENSP00000278409:L14I	ENSP00000278409:L14I	L	-	1	2	OR5F1	55518638	0.000000	0.05858	0.411000	0.26484	0.091000	0.18340	-0.235000	0.09016	0.391000	0.25143	0.297000	0.19635	CTA		0.348	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR8K3	219473	broad.mit.edu	37	11	56086721	56086721	+	Splice_Site	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:56086721A>G	ENST00000312711.1	+	1	939	c.939A>G	c.(937-939)taA>taG	p.*313*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.*313*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTTTGTTTAAATTTTGTACA	0.303																																					p.X313X												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A939G	11						.						23.0	23.0	23.0					11																	56086721		2195	4289	6484	55843297	SO:0001630	splice_region_variant	219473	exon1			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.936+1A>G	11.37:g.56086721A>G			55843297	NM_001005202	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																				0.303	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	Silent
OR8K1	390157	broad.mit.edu	37	11	56113551	56113551	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:56113551A>G	ENST00000279783.2	+	1	131	c.37A>G	c.(37-39)Acc>Gcc	p.T13A		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T13A(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)					CACGGCAGTGACCAAGGTGAC	0.383										HNSCC(65;0.19)																											p.T13A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A37G	11						.						89.0	85.0	87.0					11																	56113551		2201	4296	6497	55870127	SO:0001583	missense	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.37A>G	11.37:g.56113551A>G	ENSP00000279783:p.Thr13Ala		55870127	NM_001002907	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733899	0.48939	.	.	ENSG00000150261	ENST00000279783	T	0.00711	5.8	4.68	0.87	0.19102	.	1.040270	0.07622	N	0.927195	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	P	0.49783	0.928	B	0.37833	0.259	T	0.52593	-0.8555	10	0.87932	D	0	0.0	5.5231	0.16943	0.4879:0.3456:0.0:0.1665	.	13	Q8NGG5	OR8K1_HUMAN	A	13	ENSP00000279783:T13A	ENSP00000279783:T13A	T	+	1	0	OR8K1	55870127	0.000000	0.05858	0.001000	0.08648	0.594000	0.36715	0.843000	0.27640	-0.121000	0.11787	0.368000	0.22195	ACC		0.383	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
OR5M1	390168	broad.mit.edu	37	11	56380139	56380139	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:56380139A>C	ENST00000526538.1	-	1	839	c.840T>G	c.(838-840)ttT>ttG	p.F280L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F280L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTGGGCTCAAAAAAGTATAAA	0.398																																					p.F280L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T840G	11						.						179.0	174.0	175.0					11																	56380139		1827	4092	5919	56136715	SO:0001583	missense	390168	exon1			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.840T>G	11.37:g.56380139A>C	ENSP00000435416:p.Phe280Leu		56136715	NM_001004740	Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	A	9.412	1.080766	0.20309	.	.	ENSG00000255012	ENST00000526538	T	0.00029	8.91	3.71	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.02225	-0.63	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.48175	-0.9058	9	0.20046	T	0.44	.	1.5972	0.02666	0.3967:0.3377:0.1013:0.1643	.	280	Q8NGP8	OR5M1_HUMAN	L	280	ENSP00000435416:F280L	ENSP00000435416:F280L	F	-	3	2	OR5M1	56136715	0.000000	0.05858	0.601000	0.28877	0.223000	0.24884	-0.312000	0.08113	0.074000	0.16767	0.232000	0.17820	TTT		0.398	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740	
SERPING1	710	broad.mit.edu	37	11	57367638	57367638	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:57367638C>A	ENST00000278407.4	+	3	565	c.338C>A	c.(337-339)tCt>tAt	p.S113Y	SERPING1_ENST00000403558.1_Missense_Mutation_p.S147Y|SERPING1_ENST00000378324.2_Missense_Mutation_p.S61Y|SERPING1_ENST00000378323.4_Missense_Mutation_p.S118Y|SERPING1_ENST00000340687.6_Missense_Mutation_p.S113Y	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	113	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:12773530}.		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.S113Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						ccaacagattctcctacccag	0.562																																					p.S113Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C338A	11						.						229.0	235.0	233.0					11																	57367638		2201	4296	6497	57124214	SO:0001583	missense	710	exon3			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.338C>A	11.37:g.57367638C>A	ENSP00000278407:p.Ser113Tyr		57124214	NM_000062	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521803	0.27211	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558;ENST00000433668	D;D;D;D;D;D	0.90069	-2.61;-1.98;-2.04;-1.98;-1.98;-2.07	4.23	2.23	0.28157	Serpin domain (1);	2.164530	0.02226	N	0.064406	D	0.83514	0.5271	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.32283	0.362;0.362;0.362;0.362	B;B;B;B	0.25291	0.059;0.059;0.059;0.059	T	0.70099	-0.4965	10	0.54805	T	0.06	.	6.2564	0.20876	0.0:0.7385:0.0:0.2615	.	118;147;113;113	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	Y	113;113;113;118;61;147;113	ENSP00000384561:S113Y;ENSP00000278407:S113Y;ENSP00000341861:S113Y;ENSP00000367574:S118Y;ENSP00000367575:S61Y;ENSP00000384420:S147Y	ENSP00000278407:S113Y	S	+	2	0	SERPING1	57124214	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.238000	0.18004	0.280000	0.22209	-0.291000	0.09656	TCT		0.562	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
MED19	219541	broad.mit.edu	37	11	57472676	57472676	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:57472676C>T	ENST00000431606.2	-	2	272	c.243G>A	c.(241-243)acG>acA	p.T81T	MED19_ENST00000337672.2_Silent_p.T81T			A0JLT2	MED19_HUMAN	mediator complex subunit 19	81						mediator complex (GO:0016592)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.T81T(1)		cervix(1)|large_intestine(1)|lung(1)|ovary(2)	5						TGATCAGATTCGTGCTGCCTG	0.428																																					p.T81T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	11						.						76.0	76.0	76.0					11																	57472676		2201	4296	6497	57229252	SO:0001819	synonymous_variant	219541	exon2			AY148462	CCDS7966.1	11q12.1	2008-02-05	2007-07-30		ENSG00000156603	ENSG00000156603			29600	protein-coding gene	gene with protein product		612385	"""mediator of RNA polymerase II transcription, subunit 19 homolog (S. cerevisiae)"""			9417904	Standard	NM_153450		Approved	LCMR1	uc001nlb.3	A0JLT2	OTTHUMG00000167199	ENST00000431606.2:c.243G>A	11.37:g.57472676C>T			57229252	NM_153450	Q8IV02|Q8IZD1	Silent	SNP	ENST00000431606.2	37																																																																																					0.428	MED19-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000393702.1	NM_153450	
OR5B12	390191	broad.mit.edu	37	11	58206881	58206881	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:58206881G>T	ENST00000302572.2	-	1	765	c.744C>A	c.(742-744)atC>atA	p.I248I		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I248I(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCCCATAAAAGATGGAAACTG	0.433																																					p.I248I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C744A	11						.						79.0	76.0	77.0					11																	58206881		2201	4295	6496	57963457	SO:0001819	synonymous_variant	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.744C>A	11.37:g.58206881G>T			57963457	NM_001004733	B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	CCDS31551.1																																																																																				0.433	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733	
OR5AN1	390195	broad.mit.edu	37	11	59132603	59132603	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:59132603C>T	ENST00000313940.2	+	1	719	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I224I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATATTGGCATCTCCATCATGA	0.418																																					p.I224I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	11						.						218.0	197.0	204.0					11																	59132603		2201	4295	6496	58889179	SO:0001819	synonymous_variant	390195	exon1			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.672C>T	11.37:g.59132603C>T			58889179	NM_001004729	B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	CCDS31559.1																																																																																				0.418	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
MS4A2	2206	broad.mit.edu	37	11	59861003	59861003	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:59861003C>T	ENST00000278888.3	+	5	611	c.509C>T	c.(508-510)aCc>aTc	p.T170I		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	170					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.T170I(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTTTTTGAGACCAAGTGCTTT	0.433																																					p.T170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C509T	11						.						164.0	153.0	157.0					11																	59861003		2201	4295	6496	59617579	SO:0001583	missense	2206	exon5			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.509C>T	11.37:g.59861003C>T	ENSP00000278888:p.Thr170Ile		59617579	NM_000139	Q54A81	Missense_Mutation	SNP	ENST00000278888.3	37	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	C	8.627	0.892814	0.17613	.	.	ENSG00000149534	ENST00000278888	T	0.02258	4.37	4.33	-4.24	0.03777	.	1.541520	0.03241	N	0.180347	T	0.02380	0.0073	L	0.48642	1.525	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.45934	-0.9227	10	0.37606	T	0.19	1.6323	1.7794	0.03028	0.2525:0.1737:0.0898:0.484	.	100;170	Q14298;Q01362	.;FCERB_HUMAN	I	170	ENSP00000278888:T170I	ENSP00000278888:T170I	T	+	2	0	MS4A2	59617579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.071000	0.11505	-0.803000	0.04415	-0.781000	0.03364	ACC		0.433	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		
MS4A7	58475	broad.mit.edu	37	11	60157008	60157008	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:60157008C>T	ENST00000300184.3	+	5	681	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MS4A7_ENST00000534016.1_Missense_Mutation_p.S117L|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Missense_Mutation_p.S117L|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	162						integral component of membrane (GO:0016021)		p.S162L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTGCCTTATTCGGAGTACTAT	0.433																																					p.S117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C350T	11						.						134.0	123.0	127.0					11																	60157008		2203	4300	6503	59913584	SO:0001583	missense	58475	exon4			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.485C>T	11.37:g.60157008C>T	ENSP00000300184:p.Ser162Leu		59913584	NM_206938	A6NP53|Q6IAG8	Missense_Mutation	SNP	ENST00000300184.3	37	CCDS7985.1	.	.	.	.	.	.	.	.	.	.	C	7.397	0.632037	0.14322	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530614;ENST00000530027	T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34	3.69	1.74	0.24563	.	1.738880	0.03964	N	0.290529	T	0.02304	0.0071	N	0.20483	0.58	0.09310	N	0.999995	B;B;B	0.22211	0.066;0.054;0.066	B;B;B	0.23716	0.048;0.019;0.04	T	0.46428	-0.9192	10	0.10111	T	0.7	-6.4453	4.5669	0.12191	0.0:0.6409:0.2294:0.1296	.	117;117;162	E9PIV6;Q9GZW8-2;Q9GZW8	.;.;MS4A7_HUMAN	L	162;117;117;117;98	ENSP00000300184:S162L;ENSP00000350983:S117L;ENSP00000434637:S117L;ENSP00000433861:S117L;ENSP00000434819:S98L	ENSP00000300184:S162L	S	+	2	0	MS4A7	59913584	0.000000	0.05858	0.039000	0.18376	0.712000	0.41017	-0.260000	0.08708	0.506000	0.28125	0.563000	0.77884	TCG		0.433	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1		
MS4A14	84689	broad.mit.edu	37	11	60167907	60167907	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:60167907G>A	ENST00000300187.6	+	3	575	c.298G>A	c.(298-300)Gat>Aat	p.D100N	MS4A14_ENST00000395005.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.D100N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	100						integral component of membrane (GO:0016021)		p.D100N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CACAGTAACCGATAAGAAATC	0.308																																					p.D100N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G298A	11						.						86.0	81.0	83.0					11																	60167907		2202	4300	6502	59924483	SO:0001583	missense	84689	exon3			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.298G>A	11.37:g.60167907G>A	ENSP00000300187:p.Asp100Asn		59924483	NM_032597	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799625	0.16397	.	.	ENSG00000166928	ENST00000300187;ENST00000531783	T;T	0.02236	4.38;4.38	4.9	-9.8	0.00490	.	2.021940	0.02412	N	0.081749	T	0.00845	0.0028	N	0.02802	-0.49	0.09310	N	0.999999	B	0.17465	0.022	B	0.08055	0.003	T	0.47661	-0.9100	10	0.13470	T	0.59	-0.0452	3.1664	0.06538	0.4448:0.2796:0.186:0.0895	.	100	Q96JA4	M4A14_HUMAN	N	100	ENSP00000300187:D100N;ENSP00000433761:D100N	ENSP00000300187:D100N	D	+	1	0	MS4A14	59924483	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.869000	0.04232	-2.006000	0.00958	-1.844000	0.00574	GAT		0.308	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
TUT1	64852	broad.mit.edu	37	11	62342608	62342608	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:62342608G>T	ENST00000476907.1	-	9	3274	c.2583C>A	c.(2581-2583)ttC>ttA	p.F861L	TUT1_ENST00000308436.7_Missense_Mutation_p.F899L|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000532986.1_5'Flank|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	861					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.F861L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AAACCTGTAAGAAATGATGGA	0.522																																					p.F899L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2697A	11						.						58.0	60.0	59.0					11																	62342608		2202	4299	6501	62099184	SO:0001583	missense	64852	exon9			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2583C>A	11.37:g.62342608G>T	ENSP00000419607:p.Phe861Leu		62099184	NM_022830	A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.288333	0.80803	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.70164	-0.46;-0.41	5.56	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.68952	2.095	0.38911	D	0.95754	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.76987	-0.2755	10	0.72032	D	0.01	-22.0112	8.409	0.32632	0.2285:0.0:0.7715:0.0	.	861;899	Q9H6E5;F5H0R1	STPAP_HUMAN;.	L	899;861	ENSP00000308000:F899L;ENSP00000419607:F861L	ENSP00000308000:F899L	F	-	3	2	TUT1	62099184	0.997000	0.39634	0.980000	0.43619	0.946000	0.59487	0.962000	0.29280	0.476000	0.27440	0.655000	0.94253	TTC		0.522	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830	
RTN3	10313	broad.mit.edu	37	11	63488414	63488414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:63488414G>T	ENST00000377819.5	+	3	2594	c.2440G>T	c.(2440-2442)Gaa>Taa	p.E814*	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Nonsense_Mutation_p.E702*|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Nonsense_Mutation_p.E795*	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	814					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.E795*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CACTATCAGAGAAACTACTAG	0.428																																					p.E795X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2383T	11						.						69.0	72.0	71.0					11																	63488414		2201	4298	6499	63244990	SO:0001587	stop_gained	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.2440G>T	11.37:g.63488414G>T	ENSP00000367050:p.Glu814*		63244990	NM_201428	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Nonsense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179082	0.94846	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	.	.	.	5.67	2.77	0.32553	.	2.511560	0.01289	N	0.009946	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6994	8.4419	0.32820	0.2456:0.0:0.7544:0.0	.	.	.	.	X	814;795;702	.	ENSP00000344106:E795X	E	+	1	0	RTN3	63244990	0.530000	0.26330	0.024000	0.17045	0.072000	0.16883	2.509000	0.45459	0.416000	0.25844	0.655000	0.94253	GAA		0.428	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
PYGM	5837	broad.mit.edu	37	11	64519437	64519437	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:64519437C>T	ENST00000164139.3	-	14	2125	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	576					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R576Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGAGCTGTCGTTTATATTC	0.517																																					p.R488Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1463A	11						.						206.0	174.0	185.0					11																	64519437		2201	4297	6498	64276013	SO:0001583	missense	5837	exon12				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1727G>A	11.37:g.64519437C>T	ENSP00000164139:p.Arg576Gln		64276013	NM_001164716	A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	36	5.825684	0.96996	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96041	-3.89;-3.86	5.71	5.71	0.89125	.	0.000000	0.53938	D	0.000045	D	0.98826	0.9604	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99441	1.0938	10	0.87932	D	0	-18.3338	17.3513	0.87324	0.0:1.0:0.0:0.0	.	488;576	A6NDY6;P11217	.;PYGM_HUMAN	Q	488;576;557	ENSP00000366650:R488Q;ENSP00000164139:R576Q	ENSP00000164139:R576Q	R	-	2	0	PYGM	64276013	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.783000	0.85696	2.698000	0.92095	0.561000	0.74099	CGA		0.517	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
MRPL49	740	broad.mit.edu	37	11	64888220	64888220	+	5'Flank	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:64888220T>C	ENST00000279242.2	+	0	0				FAU_ENST00000525297.1_Missense_Mutation_p.Y77C|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000279259.3_3'UTR|FAU_ENST00000531743.1_Missense_Mutation_p.Y112C|FAU_ENST00000529639.1_Missense_Mutation_p.Y112C|MRPL49_ENST00000534078.1_5'Flank|MRPL49_ENST00000531705.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.Y112C	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.Y112C(1)		endometrium(1)|ovary(1)	2						GCGCCGGTTGTACTGCATCCG	0.498																																					p.Y112C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A335G	11						.						77.0	83.0	81.0					11																	64888220		2201	4297	6498	64644796	SO:0001631	upstream_gene_variant	2197	exon5				CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64888220T>C	Exception_encountered		64644796	NM_001997	B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554691	0.86231	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77107	-0.2710	7	0.87932	D	0	.	13.4889	0.61382	0.0:0.0:0.0:1.0	.	.	.	.	C	112;112;77;112	ENSP00000435370:Y112C;ENSP00000431822:Y112C;ENSP00000436110:Y77C;ENSP00000434440:Y112C	ENSP00000436110:Y77C	Y	-	2	0	FAU	64644796	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.862000	0.87013	2.090000	0.63153	0.533000	0.62120	TAC		0.498	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
ACTN3	89	broad.mit.edu	37	11	66319057	66319057	+	RNA	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:66319057T>G	ENST00000502692.1	+	0	566				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.V106V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCGCCAACGTTAACAAGGCCC	0.557																																					p.V107V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T321G	11						.						73.0	76.0	75.0					11																	66319057		2164	4286	6450	66075633			89	exon3			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319057T>G			66075633	NM_001104	A6NP77|Q4KKV2	Silent	SNP	ENST00000502692.1	37																																																																																					0.557	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104	
RBM4	5936	broad.mit.edu	37	11	66407509	66407509	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:66407509C>T	ENST00000409406.1	+	1	1104	c.327C>T	c.(325-327)atC>atT	p.I109I	RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Silent_p.I109I|RBM4_ENST00000530235.1_Silent_p.I109I|RBM4_ENST00000483858.1_Silent_p.I109I|RBM4_ENST00000310092.7_Silent_p.I109I|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000506523.2_Silent_p.I109I|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Silent_p.I109I|RBM4_ENST00000396053.4_Silent_p.I109I|RBM4_ENST00000578778.1_Silent_p.I109I|RBM4_ENST00000408993.2_Silent_p.I109I|RBM4_ENST00000398692.4_Silent_p.I109I			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.I109I(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		AATGTGACATCGTGAAAGATT	0.512																																					p.I109I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C327T	11						.						142.0	129.0	133.0					11																	66407509		2200	4292	6492	66164085	SO:0001819	synonymous_variant	5936	exon2			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.327C>T	11.37:g.66407509C>T			66164085	NM_001198843	B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	CCDS41676.1																																																																																				0.512	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896	
PPP6R3	55291	broad.mit.edu	37	11	68326038	68326038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:68326038G>T	ENST00000393800.2	+	8	990	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.E246*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.E246*	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	246					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E246*(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						CCCTAGGCAAGAAATTATAGA	0.383																																					p.E246X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G736T	11						.						93.0	94.0	94.0					11																	68326038		2200	4294	6494	68082614	SO:0001587	stop_gained	55291	exon9			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.736G>T	11.37:g.68326038G>T	ENSP00000377389:p.Glu246*		68082614	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	40	8.142206	0.98675	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403	.	.	.	5.45	5.45	0.79879	.	0.136365	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	.	.	.	X	246	.	ENSP00000265636:E246X	E	+	1	0	PPP6R3	68082614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.446000	0.97590	2.836000	0.97738	0.655000	0.94253	GAA		0.383	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
IGHMBP2	3508	broad.mit.edu	37	11	68685250	68685250	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:68685250G>A	ENST00000255078.3	+	7	1070	c.959G>A	c.(958-960)cGa>cAa	p.R320Q		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	320	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R320Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGTAATTTTCGAAATGAAATT	0.383																																					p.R320Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G959A	11						.						86.0	90.0	89.0					11																	68685250		2200	4294	6494	68441826	SO:0001583	missense	3508	exon7			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.959G>A	11.37:g.68685250G>A	ENSP00000255078:p.Arg320Gln		68441826	NM_002180	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345677	0.24426	.	.	ENSG00000132740	ENST00000255078	D	0.82433	-1.61	4.81	2.94	0.34122	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	1.041280	0.07637	N	0.929734	T	0.69700	0.3140	N	0.19112	0.55	0.09310	N	1	P	0.38582	0.638	B	0.36666	0.23	T	0.56715	-0.7933	10	0.27082	T	0.32	-15.8357	5.8834	0.18868	0.172:0.0:0.6744:0.1536	.	320	P38935	SMBP2_HUMAN	Q	320	ENSP00000255078:R320Q	ENSP00000255078:R320Q	R	+	2	0	IGHMBP2	68441826	0.195000	0.23338	0.001000	0.08648	0.843000	0.47879	1.553000	0.36255	0.455000	0.26910	0.561000	0.74099	CGA		0.383	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180	
MRGPRD	116512	broad.mit.edu	37	11	68747870	68747870	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:68747870G>A	ENST00000309106.3	-	1	585	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	196						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L196L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGCTGGACAGAGTCATCACT	0.597																																					p.L196L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C586T	11						.						52.0	46.0	48.0					11																	68747870		2200	4294	6494	68504446	SO:0001819	synonymous_variant	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.586C>T	11.37:g.68747870G>A			68504446	NM_198923	Q8NGK7	Silent	SNP	ENST00000309106.3	37	CCDS31625.1																																																																																				0.597	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
OR2AT4	341152	broad.mit.edu	37	11	74800230	74800230	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:74800230C>T	ENST00000305159.3	-	1	569	c.529G>A	c.(529-531)Gcc>Acc	p.A177T		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A177T(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TAGATGTAGGCAATGCTGTTA	0.572																																					p.A177T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	11						.						96.0	84.0	88.0					11																	74800230		2200	4293	6493	74477878	SO:0001583	missense	341152	exon1			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.529G>A	11.37:g.74800230C>T	ENSP00000304846:p.Ala177Thr		74477878	NM_001005285	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	3.334	-0.135945	0.06711	.	.	ENSG00000171561	ENST00000305159	T	0.36699	1.24	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.273316	0.19367	U	0.115983	T	0.23688	0.0573	N	0.05383	-0.06	0.09310	N	1	B	0.25904	0.137	B	0.36666	0.23	T	0.26087	-1.0113	10	0.18710	T	0.47	.	12.4856	0.55871	0.0:0.8316:0.1684:0.0	.	177	A6NND4	O2AT4_HUMAN	T	177	ENSP00000304846:A177T	ENSP00000304846:A177T	A	-	1	0	OR2AT4	74477878	0.008000	0.16893	0.084000	0.20598	0.199000	0.23934	1.263000	0.33004	2.617000	0.88574	0.650000	0.86243	GCC		0.572	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
PAK1	5058	broad.mit.edu	37	11	77054927	77054927	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:77054927A>C	ENST00000356341.3	-	10	1466	c.935T>G	c.(934-936)aTt>aGt	p.I312S	PAK1_ENST00000530617.1_Missense_Mutation_p.I312S|PAK1_ENST00000528203.1_Missense_Mutation_p.I214S|PAK1_ENST00000278568.4_Missense_Mutation_p.I312S|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.I312S(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)					CTCATTAATAATCAGCTCTTT	0.433																																					p.I312S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T935G	11						.						234.0	201.0	212.0					11																	77054927		2200	4292	6492	76732575	SO:0001583	missense	5058	exon10			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.935T>G	11.37:g.77054927A>C	ENSP00000348696:p.Ile312Ser		76732575	NM_002576	O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	ENST00000356341.3	37	CCDS8250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.598992|4.598992	0.87055|0.87055	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000533285|ENST00000356341;ENST00000530617;ENST00000278568;ENST00000528203	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.9|5.9	5.9|5.9	0.94986|0.94986	.|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|T	0.76126|0.76126	0.3944|0.3944	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.988;0.994;0.997	.|D;D;D;D	.|0.91635	.|0.999;0.99;0.977;0.984	T|T	0.78201|0.78201	-0.2296|-0.2296	5|10	.|0.87932	.|D	.|0	.|.	16.3322|16.3322	0.83039|0.83039	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|214;312;312;312	.|E9PM17;B3KNX7;Q13153;Q13153-2	.|.;.;PAK1_HUMAN;.	E|S	33|312;312;312;214	.|ENSP00000348696:I312S;ENSP00000433423:I312S;ENSP00000278568:I312S;ENSP00000433211:I214S	.|ENSP00000278568:I312S	D|I	-|-	3|2	2|0	PAK1|PAK1	76732575|76732575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.932000|8.932000	0.92897|0.92897	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	GAT|ATT		0.433	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576	
RAB30	27314	broad.mit.edu	37	11	82708340	82708340	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:82708340C>A	ENST00000533486.1	-	3	303	c.19G>T	c.(19-21)Gat>Tat	p.D7Y	RAB30_ENST00000527633.1_Missense_Mutation_p.D7Y|RAB30_ENST00000260056.2_Missense_Mutation_p.D7Y|RAB30_ENST00000534141.1_Missense_Mutation_p.D7Y|RAB30_ENST00000532548.1_Missense_Mutation_p.D7Y|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000525117.1_Missense_Mutation_p.D7Y	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	7					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D7Y(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AACAGGAAATCATAATCTTCC	0.483																																					p.D7Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19T	11						.						89.0	81.0	84.0					11																	82708340		2203	4300	6503	82385988	SO:0001583	missense	27314	exon3			U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.19G>T	11.37:g.82708340C>A	ENSP00000435189:p.Asp7Tyr		82385988	NM_014488	Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	ENST00000533486.1	37	CCDS8264.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303908	0.81136	.	.	ENSG00000137502	ENST00000533486;ENST00000534141;ENST00000260056;ENST00000527633;ENST00000531021;ENST00000534301;ENST00000525117;ENST00000532548;ENST00000526205;ENST00000534103;ENST00000530224;ENST00000533276;ENST00000528379	T;T;T;T;T;T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	M	0.74881	2.28	0.80722	D	1	P;D;D	0.76494	0.922;0.999;0.991	B;P;P	0.54460	0.318;0.753;0.635	D	0.86531	0.1822	9	.	.	.	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	7;7;7	E9PLM3;Q6MZH2;Q15771	.;.;RAB30_HUMAN	Y	7	ENSP00000435189:D7Y;ENSP00000434974:D7Y;ENSP00000260056:D7Y;ENSP00000435089:D7Y;ENSP00000434953:D7Y;ENSP00000432193:D7Y;ENSP00000433243:D7Y;ENSP00000437235:D7Y;ENSP00000432336:D7Y;ENSP00000435542:D7Y;ENSP00000436282:D7Y;ENSP00000434528:D7Y;ENSP00000434106:D7Y	.	D	-	1	0	RAB30	82385988	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.763000	0.85283	2.755000	0.94549	0.655000	0.94253	GAT		0.483	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392141.1	NM_014488	
SYTL2	54843	broad.mit.edu	37	11	85438946	85438946	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:85438946A>G	ENST00000528231.1	-	7	1729	c.1452T>C	c.(1450-1452)cgT>cgC	p.R484R	SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000524452.1_Silent_p.R484R|SYTL2_ENST00000527523.1_Silent_p.R436R|SYTL2_ENST00000316356.4_Silent_p.R485R|SYTL2_ENST00000389960.4_Silent_p.R484R|SYTL2_ENST00000359152.5_Silent_p.R42R|SYTL2_ENST00000525423.1_5'UTR	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	484					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.R485R(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)		TACCTTGCTGACGGTCTCTAG	0.453																																					p.R484R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1452C	11						.						84.0	76.0	79.0					11																	85438946		2203	4299	6502	85116594	SO:0001819	synonymous_variant	54843	exon8			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.1452T>C	11.37:g.85438946A>G			85116594	NM_032943	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	CCDS53688.1																																																																																				0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
CCDC83	220047	broad.mit.edu	37	11	85622351	85622351	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:85622351G>T	ENST00000342404.3	+	8	916	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	CCDC83_ENST00000376067.1_Nonsense_Mutation_p.E135*|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000280245.4_Nonsense_Mutation_p.E234*			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	234								p.E234*(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAGTTGAAGAATTAAAAAA	0.333																																					p.E234X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G700T	11						.						100.0	110.0	107.0					11																	85622351		2203	4299	6502	85299999	SO:0001587	stop_gained	220047	exon8			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.700G>T	11.37:g.85622351G>T	ENSP00000344512:p.Glu234*		85299999	NM_173556	B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Nonsense_Mutation	SNP	ENST00000342404.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.456155|6.456155	0.97581|0.97581	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	.|.	.|.	.|.	5.08|5.08	2.2|2.2	0.27929|0.27929	.|.	0.453670|.	0.22269|.	N|.	0.062282|.	.|T	.|0.42177	.|0.1191	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.48603	.|-0.9021	.|3	.|.	.|.	.|.	-0.4613|-0.4613	7.0839|7.0839	0.25247|0.25247	0.2838:0.0:0.7162:0.0|0.2838:0.0:0.7162:0.0	.|.	.|.	.|.	.|.	X|N	234;135;234|139	.|.	.|.	E|K	+|+	1|3	0|2	CCDC83|CCDC83	85299999|85299999	0.129000|0.129000	0.22400|0.22400	0.536000|0.536000	0.28039|0.28039	0.283000|0.283000	0.27025|0.27025	-0.609000|-0.609000	0.05635|0.05635	0.192000|0.192000	0.20272|0.20272	0.313000|0.313000	0.20887|0.20887	GAA|AAG		0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556	
NOX4	50507	broad.mit.edu	37	11	89135544	89135544	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:89135544A>C	ENST00000263317.4	-	9	1034	c.796T>G	c.(796-798)Ttt>Gtt	p.F266V	NOX4_ENST00000542487.1_Missense_Mutation_p.F242V|NOX4_ENST00000535633.1_Missense_Mutation_p.F242V|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.F242V|NOX4_ENST00000528341.1_Missense_Mutation_p.F241V|NOX4_ENST00000527956.1_Missense_Mutation_p.F242V|NOX4_ENST00000532825.1_Missense_Mutation_p.F242V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.F242V|NOX4_ENST00000534731.1_Missense_Mutation_p.F266V|NOX4_ENST00000413594.2_Missense_Mutation_p.F287V|NOX4_ENST00000527626.1_Missense_Mutation_p.F100V			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	266	Ferric oxidoreductase.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F266V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCTTCACAAATTTGTGCTGG	0.378																																					p.F266V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T796G	11						.						67.0	72.0	70.0					11																	89135544		2201	4299	6500	88775192	SO:0001583	missense	50507	exon9			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.796T>G	11.37:g.89135544A>C	ENSP00000263317:p.Phe266Val		88775192	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	0.741	-0.776386	0.02951	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.94931	-3.49;-3.49;-3.49;-3.47;-3.41;-3.56;-3.49;-3.49;-3.23;-3.46;-3.52	4.29	1.37	0.22104	.	0.990505	0.08226	N	0.978279	D	0.91932	0.7445	M	0.72894	2.215	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.0;0.001;0.0;0.003	B;B;B;B;B	0.10450	0.001;0.001;0.001;0.002;0.005	T	0.79458	-0.1795	9	.	.	.	-0.0028	4.0156	0.09642	0.6342:0.0:0.2181:0.1476	.	242;100;241;266;266	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	V	242;242;242;266;266;242;242;242;100;241;287	ENSP00000412446:F242V;ENSP00000440172:F242V;ENSP00000344747:F242V;ENSP00000436892:F266V;ENSP00000263317:F266V;ENSP00000434924:F242V;ENSP00000433797:F242V;ENSP00000439373:F242V;ENSP00000436093:F100V;ENSP00000436970:F241V;ENSP00000405705:F287V	.	F	-	1	0	NOX4	88775192	0.469000	0.25846	0.001000	0.08648	0.090000	0.18270	1.756000	0.38390	0.039000	0.15632	0.383000	0.25322	TTT		0.378	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
FOLH1B	219595	broad.mit.edu	37	11	89407302	89407302	+	RNA	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:89407302G>T	ENST00000532352.1	+	0	1162							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.E117*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGATGCAGAAGAATTTGGTCT	0.318																																					p.E117X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G349T	11						.						44.0	44.0	44.0					11																	89407302		2196	4278	6474	89046950			219595	exon6			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.89407302G>T			89046950	NM_153696		Nonsense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.318	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
FAT3	120114	broad.mit.edu	37	11	92616283	92616283	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:92616283G>A	ENST00000298047.6	+	23	12678	c.12661G>A	c.(12661-12663)Gtc>Atc	p.V4221I	FAT3_ENST00000525166.1_Missense_Mutation_p.V4071I|FAT3_ENST00000533797.1_Missense_Mutation_p.V556I|FAT3_ENST00000409404.2_Missense_Mutation_p.V4221I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4221					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.V4221I(2)|p.V796I(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGCCGCAACGTCTACCAGGA	0.652										TCGA Ovarian(4;0.039)																											p.V4221I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G12661A	11						.						57.0	70.0	66.0					11																	92616283		1962	4130	6092	92255931	SO:0001583	missense	120114	exon23			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12661G>A	11.37:g.92616283G>A	ENSP00000298047:p.Val4221Ile		92255931	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	4.255	0.046344	0.08243	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.84442	-0.79;-0.71;-0.8;-1.85	5.85	-0.337	0.12654	.	.	.	.	.	T	0.51719	0.1691	N	0.00621	-1.32	0.80722	D	1	B;B	0.13594	0.0;0.008	B;B	0.06405	0.0;0.002	T	0.54173	-0.8333	9	0.02654	T	1	.	8.1575	0.31178	0.1457:0.681:0.1734:0.0	.	4221;4221	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	4221;4221;4071;556	ENSP00000298047:V4221I;ENSP00000387040:V4221I;ENSP00000432586:V4071I;ENSP00000436399:V556I	ENSP00000298047:V4221I	V	+	1	0	FAT3	92255931	1.000000	0.71417	0.923000	0.36655	0.858000	0.48976	1.301000	0.33447	0.051000	0.15978	-0.175000	0.13238	GTC		0.652	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CCDC67	159989	broad.mit.edu	37	11	93170799	93170799	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:93170799C>A	ENST00000298050.3	+	14	1829	c.1729C>A	c.(1729-1731)Cta>Ata	p.L577I	CCDC67_ENST00000525646.1_Missense_Mutation_p.L319I	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	577					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.L569I(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TGAAAAACTTCTAAATACACA	0.358																																					p.L577I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1729A	11						.						71.0	74.0	73.0					11																	93170799		1801	4078	5879	92810447	SO:0001583	missense	159989	exon14			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1729C>A	11.37:g.93170799C>A	ENSP00000298050:p.Leu577Ile		92810447	NM_181645	Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990142	0.74589	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646;ENST00000529909	T;T;T	0.41065	1.48;1.48;1.01	5.98	4.98	0.66077	.	0.306190	0.22824	N	0.055182	T	0.60715	0.2290	M	0.77313	2.365	0.29568	N	0.850108	D	0.89917	1.0	D	0.85130	0.997	T	0.61178	-0.7115	10	0.62326	D	0.03	.	7.0226	0.24922	0.0:0.8613:0.0:0.1387	.	577	Q05D60	CCD67_HUMAN	I	577;577;319;58	ENSP00000432111:L577I;ENSP00000298050:L577I;ENSP00000435079:L319I	ENSP00000298050:L577I	L	+	1	2	CCDC67	92810447	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.002000	0.49496	2.838000	0.97847	0.655000	0.94253	CTA		0.358	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
C11orf54	28970	broad.mit.edu	37	11	93488490	93488490	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:93488490T>G	ENST00000331239.4	+	6	624	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G	C11orf54_ENST00000540113.1_Missense_Mutation_p.C130G|C11orf54_ENST00000528099.1_Missense_Mutation_p.C149G|C11orf54_ENST00000354421.3_Missense_Mutation_p.C149G|C11orf54_ENST00000528288.1_Missense_Mutation_p.C149G			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	149					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.C149G(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGTGAGAAATGTCATGATTT	0.423																																					p.C149G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T445G	11						.						99.0	93.0	95.0					11																	93488490		2201	4298	6499	93128138	SO:0001583	missense	28970	exon6			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.445T>G	11.37:g.93488490T>G	ENSP00000331209:p.Cys149Gly		93128138	NM_014039	A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	ENST00000331239.4	37		.	.	.	.	.	.	.	.	.	.	T	6.188	0.402809	0.11696	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000526335;ENST00000533154	.	.	.	5.94	-1.95	0.07548	Domain of unknown function DUF1907 (1);	0.460546	0.26776	N	0.022545	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.22152	0.038;0.012	T	0.19451	-1.0305	9	0.25751	T	0.34	-3.0389	7.3156	0.26499	0.0971:0.296:0.0:0.6068	.	149;149	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	G	149;149;149;149;130;130;130;149;149;38	.	ENSP00000331209:C149G	C	+	1	0	C11orf54	93128138	0.195000	0.23338	0.006000	0.13384	0.621000	0.37620	0.346000	0.19997	-0.302000	0.08869	-1.345000	0.01243	TGT		0.423	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039	
MRE11A	4361	broad.mit.edu	37	11	94203791	94203791	+	Missense_Mutation	SNP	C	C	T	rs190142346		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:94203791C>T	ENST00000323929.3	-	9	1085	c.863G>A	c.(862-864)cGt>cAt	p.R288H	RP11-685N10.1_ENST00000541092.1_RNA|MRE11A_ENST00000393241.4_Missense_Mutation_p.R288H|MRE11A_ENST00000407439.3_Missense_Mutation_p.R291H|MRE11A_ENST00000323977.3_Missense_Mutation_p.R288H	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	288					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.R288H(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCCTTTAATACGCAGCAAACC	0.393								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				C|||	1	0.000199681	0.0	0.0	5008	,	,		18425	0.001		0.0	False		,,,				2504	0.0				p.R288H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863A	11						.						97.0	86.0	90.0					11																	94203791		2201	4297	6498	93843439	SO:0001583	missense	4361	exon9	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.863G>A	11.37:g.94203791C>T	ENSP00000325863:p.Arg288His		93843439	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.82	2.351224	0.41700	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.5	3.65	0.41850	.	0.043634	0.85682	N	0.000000	T	0.72228	0.3434	L	0.28344	0.845	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.06405	0.002;0.002;0.001	T	0.65467	-0.6161	10	0.42905	T	0.14	-6.4527	11.2637	0.49097	0.0:0.7963:0.0:0.2037	.	291;288;288	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	H	288;291;288;288	ENSP00000325863:R288H;ENSP00000385614:R291H;ENSP00000326094:R288H;ENSP00000376933:R288H	ENSP00000325863:R288H	R	-	2	0	MRE11A	93843439	0.911000	0.30947	0.695000	0.30226	0.979000	0.70002	1.804000	0.38873	0.808000	0.34231	-0.142000	0.14014	CGT		0.393	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
PIWIL4	143689	broad.mit.edu	37	11	94351195	94351195	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:94351195A>G	ENST00000299001.6	+	17	2301	c.2090A>G	c.(2089-2091)gAt>gGt	p.D697G	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA|PIWIL4_ENST00000537419.1_Missense_Mutation_p.D48G	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	697	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.D697G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGTGTAGGGGATGGTCAGCTG	0.433																																					p.D697G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2090G	11						.						97.0	90.0	92.0					11																	94351195		2201	4298	6499	93990843	SO:0001583	missense	143689	exon17			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.2090A>G	11.37:g.94351195A>G	ENSP00000299001:p.Asp697Gly		93990843	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.533791	0.45073	.	.	ENSG00000134627	ENST00000299001;ENST00000537419	T;T	0.34667	1.35;1.35	5.89	4.74	0.60224	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.165433	0.39687	N	0.001300	T	0.69593	0.3128	H	0.95982	3.75	0.40472	D	0.980351	D	0.69078	0.997	D	0.68765	0.96	T	0.79188	-0.1906	10	0.87932	D	0	-15.2713	12.2573	0.54631	0.8577:0.1423:0.0:0.0	.	697	Q7Z3Z4	PIWL4_HUMAN	G	697;48	ENSP00000299001:D697G;ENSP00000439710:D48G	ENSP00000299001:D697G	D	+	2	0	PIWIL4	93990843	1.000000	0.71417	0.023000	0.16930	0.079000	0.17450	7.613000	0.82986	1.024000	0.39682	0.460000	0.39030	GAT		0.433	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
ENDOD1	23052	broad.mit.edu	37	11	94862121	94862121	+	Missense_Mutation	SNP	G	G	A	rs200901212		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:94862121G>A	ENST00000278505.4	+	2	999	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	294						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R294Q(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)				GATGAAGAACGAATGGTACAA	0.443																																					p.R294Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G881A	11						.						89.0	86.0	87.0					11																	94862121		1860	4091	5951	94501769	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.881G>A	11.37:g.94862121G>A	ENSP00000278505:p.Arg294Gln		94501769	NM_015036	A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530408	0.27387	.	.	ENSG00000149218	ENST00000278505	T	0.33438	1.41	5.9	5.9	0.94986	.	0.209937	0.33346	N	0.005001	T	0.21761	0.0524	L	0.55103	1.725	0.27024	N	0.964405	P	0.49253	0.921	B	0.35859	0.212	T	0.41980	-0.9478	10	0.35671	T	0.21	-16.9912	4.9356	0.13939	0.0805:0.149:0.6159:0.1547	.	294	O94919	ENDD1_HUMAN	Q	294	ENSP00000278505:R294Q	ENSP00000278505:R294Q	R	+	2	0	ENDOD1	94501769	0.996000	0.38824	0.962000	0.40283	0.238000	0.25445	2.963000	0.49184	2.800000	0.96347	0.455000	0.32223	CGA		0.443	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036	
MAML2	84441	broad.mit.edu	37	11	95712130	95712130	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:95712130G>T	ENST00000524717.1	-	5	4737	c.3453C>A	c.(3451-3453)atC>atA	p.I1151I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1151					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.I1151I(2)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGTTCCCCAAGATTTCATCAA	0.393			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.I1151I			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3453A	11						.						52.0	50.0	51.0					11																	95712130		1841	4102	5943	95351778	SO:0001819	synonymous_variant	84441	exon5			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3453C>A	11.37:g.95712130G>T			95351778	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	CCDS44714.1																																																																																				0.393	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
CCDC82	79780	broad.mit.edu	37	11	96086848	96086848	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:96086848A>C	ENST00000278520.5	-	9	2025	c.1597T>G	c.(1597-1599)Ttt>Gtt	p.F533V	CCDC82_ENST00000542662.1_Missense_Mutation_p.F533V|CCDC82_ENST00000423339.2_Missense_Mutation_p.F533V			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	533								p.F533V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TAATCCGCAAAATTGAGATAT	0.313																																					p.F533V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1597G	11						.						112.0	114.0	113.0					11																	96086848		2199	4295	6494	95726496	SO:0001583	missense	79780	exon10			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1597T>G	11.37:g.96086848A>C	ENSP00000278520:p.Phe533Val		95726496	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	7.120	0.577724	0.13686	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.21543	2.0;2.0;2.0	5.9	-5.35	0.02697	.	2.547520	0.00881	N	0.002136	T	0.10895	0.0266	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.14062	-1.0486	10	0.24483	T	0.36	12.5374	0.5118	0.00597	0.2698:0.1244:0.242:0.3639	.	533	Q8N4S0	CCD82_HUMAN	V	533	ENSP00000278520:F533V;ENSP00000444010:F533V;ENSP00000397156:F533V	ENSP00000278520:F533V	F	-	1	0	CCDC82	95726496	0.000000	0.05858	0.000000	0.03702	0.941000	0.58515	-0.686000	0.05161	-0.839000	0.04212	0.528000	0.53228	TTT		0.313	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
CCDC82	79780	broad.mit.edu	37	11	96116606	96116606	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:96116606T>G	ENST00000278520.5	-	4	1246	c.818A>C	c.(817-819)gAt>gCt	p.D273A	CCDC82_ENST00000542662.1_Missense_Mutation_p.D273A|CCDC82_ENST00000423339.2_Missense_Mutation_p.D273A			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	273								p.D273A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		atcaacttcatcaCTGCTTGG	0.338																																					p.D273A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A818C	11						.						98.0	90.0	93.0					11																	96116606		2197	4294	6491	95756254	SO:0001583	missense	79780	exon5			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.818A>C	11.37:g.96116606T>G	ENSP00000278520:p.Asp273Ala		95756254	NM_024725	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	2.322	-0.355421	0.05138	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.24151	1.87;1.87;1.87	5.77	4.61	0.57282	.	0.869029	0.09753	U	0.760309	T	0.30634	0.0771	L	0.57536	1.79	0.09310	N	1	P;P	0.42296	0.775;0.657	B;B	0.43916	0.436;0.255	T	0.11966	-1.0566	10	0.29301	T	0.29	-6.5547	8.8943	0.35453	0.0:0.0861:0.0:0.9139	.	273;273	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	A	273	ENSP00000278520:D273A;ENSP00000444010:D273A;ENSP00000397156:D273A	ENSP00000278520:D273A	D	-	2	0	CCDC82	95756254	0.213000	0.23551	0.036000	0.18154	0.036000	0.12997	0.074000	0.14662	0.964000	0.38108	0.472000	0.43445	GAT		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
CNTN5	53942	broad.mit.edu	37	11	99715657	99715657	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:99715657G>T	ENST00000524871.1	+	5	641	c.351G>T	c.(349-351)aaG>aaT	p.K117N	CNTN5_ENST00000279463.3_Missense_Mutation_p.K117N|CNTN5_ENST00000527185.1_Missense_Mutation_p.K117N|CNTN5_ENST00000418526.2_Missense_Mutation_p.K43N|CNTN5_ENST00000528682.1_Missense_Mutation_p.K117N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	117	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.K117N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGATGAAAAGAAGGTAGCAT	0.358																																					p.K43N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	11						.						162.0	148.0	152.0					11																	99715657		1849	4094	5943	99220867	SO:0001583	missense	53942	exon4			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.351G>T	11.37:g.99715657G>T	ENSP00000435637:p.Lys117Asn		99220867	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340069	0.60963	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.33	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.115868	0.64402	N	0.000013	T	0.61060	0.2317	N	0.11756	0.17	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.999	P;P;P	0.59115	0.767;0.77;0.852	T	0.63247	-0.6680	10	0.44086	T	0.13	.	10.5594	0.45135	0.0747:0.1348:0.7905:0.0	.	117;43;117	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	N	117;117;117;43;117	ENSP00000433575:K117N;ENSP00000436185:K117N;ENSP00000435637:K117N;ENSP00000393229:K43N;ENSP00000279463:K117N	ENSP00000279463:K117N	K	+	3	2	CNTN5	99220867	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.939000	0.48995	1.341000	0.45600	0.650000	0.86243	AAG		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CNTN5	53942	broad.mit.edu	37	11	99715827	99715827	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:99715827G>A	ENST00000524871.1	+	6	700	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.R137Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.R137Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.R63Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.R137Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	137	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R137Q(1)|p.R137L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGATGGCTTCGAAATGGAACA	0.353																																					p.R63Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G188A	11						.						97.0	87.0	90.0					11																	99715827		1831	4092	5923	99221037	SO:0001583	missense	53942	exon5			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.410G>A	11.37:g.99715827G>A	ENSP00000435637:p.Arg137Gln		99221037	NM_175566	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189811	0.78789	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.210160	0.35151	N	0.003415	T	0.51143	0.1657	L	0.48260	1.515	0.44816	D	0.997825	D;D;D	0.67145	0.984;0.993;0.996	P;P;P	0.55345	0.585;0.449;0.774	T	0.33111	-0.9881	10	0.23891	T	0.37	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	137;63;137	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Q	137;137;137;63;137	ENSP00000433575:R137Q;ENSP00000436185:R137Q;ENSP00000435637:R137Q;ENSP00000393229:R63Q;ENSP00000279463:R137Q	ENSP00000279463:R137Q	R	+	2	0	CNTN5	99221037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.046000	0.76592	2.597000	0.87782	0.650000	0.86243	CGA		0.353	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
GLB1L3	112937	broad.mit.edu	37	11	134151327	134151327	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr11:134151327A>G	ENST00000431683.2	+	4	419	c.419A>G	c.(418-420)aAc>aGc	p.N140S	GLB1L3_ENST00000389887.5_Missense_Mutation_p.N140S	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	140					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.N140S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TTCTCTGGGAACCTGGACCTG	0.512																																					p.N140S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A419G	11						.						229.0	224.0	226.0					11																	134151327		2201	4297	6498	133656537	SO:0001583	missense	112937	exon4				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.419A>G	11.37:g.134151327A>G	ENSP00000396615:p.Asn140Ser		133656537	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964408	0.53507	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97959	-4.63;-4.63	4.16	2.99	0.34606	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.96062	0.8717	M	0.71296	2.17	0.25779	N	0.984759	P;B	0.49961	0.93;0.447	P;B	0.45037	0.467;0.439	D	0.89717	0.3916	9	0.15499	T	0.54	.	7.6557	0.28373	0.8032:0.0:0.0:0.1968	.	140;140	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	S	140	ENSP00000374537:N140S;ENSP00000396615:N140S	ENSP00000374537:N140S	N	+	2	0	GLB1L3	133656537	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	5.810000	0.69179	0.714000	0.32081	0.459000	0.35465	AAC		0.512	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
GRIK2	2898	broad.mit.edu	37	6	101847237	101847237	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:101847237T>G	ENST00000421544.1	+	1	574	c.84T>G	c.(82-84)taT>taG	p.Y28*	GRIK2_ENST00000413795.1_Nonsense_Mutation_p.Y28*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.Y28*|GRIK2_ENST00000358361.3_Nonsense_Mutation_p.Y28*|GRIK2_ENST00000369138.1_Nonsense_Mutation_p.Y28*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.Y28*	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	28					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.Y28*(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)	GGATTGGATATTCTCAAGGAA	0.468																																					p.Y28X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T84G	6						.						167.0	153.0	158.0					6																	101847237		2203	4300	6503	101953958	SO:0001587	stop_gained	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.84T>G	6.37:g.101847237T>G	ENSP00000397026:p.Tyr28*		101953958	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Nonsense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	43	9.890063	0.99289	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	.	.	.	5.32	4.17	0.49024	.	0.083622	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.97	0.47434	0.0:0.0727:0.0:0.9273	.	.	.	.	X	28	.	ENSP00000313276:Y28X	Y	+	3	2	GRIK2	101953958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.422000	0.52749	1.050000	0.40346	0.533000	0.62120	TAT		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102503400	102503400	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:102503400T>G	ENST00000421544.1	+	15	2997	c.2507T>G	c.(2506-2508)tTt>tGt	p.F836C	GRIK2_ENST00000413795.1_Missense_Mutation_p.F836C|GRIK2_ENST00000369137.3_Missense_Mutation_p.F760C|GRIK2_ENST00000369138.1_Missense_Mutation_p.F836C|GRIK2_ENST00000318991.6_Missense_Mutation_p.F836C|GRIK2_ENST00000369134.4_Missense_Mutation_p.F787C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	836					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.F836C(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)	CTTTCAGTTTTTGTGGCAGTG	0.408																																					p.F836C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2507G	6						.						94.0	107.0	102.0					6																	102503400		2203	4300	6503	102610093	SO:0001583	missense	2898	exon15				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.2507T>G	6.37:g.102503400T>G	ENSP00000397026:p.Phe836Cys		102610093	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249142	0.80024	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.13538	2.68;2.63;2.58;2.89;2.63;2.68	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.52759	1.655	0.58432	D	0.999996	D;D;D	0.65815	0.995;0.992;0.995	D;P;D	0.63703	0.917;0.765;0.917	T	0.00800	-1.1561	10	0.87932	D	0	.	15.9826	0.80125	0.0:0.0:0.0:1.0	.	836;836;836	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	836;836;836;760;836;787;611	ENSP00000397026:F836C;ENSP00000405596:F836C;ENSP00000358134:F836C;ENSP00000358133:F760C;ENSP00000313276:F836C;ENSP00000358130:F787C	ENSP00000313276:F836C	F	+	2	0	GRIK2	102610093	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.176000	0.68965	0.477000	0.44152	TTT		0.408	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102516368	102516368	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:102516368T>C	ENST00000421544.1	+	16	3199	c.2709T>C	c.(2707-2709)ggT>ggC	p.G903G	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Silent_p.G827G|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Silent_p.G854G	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	903					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.G903G(1)		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)	GGTTGCCAGGTAAAGAAACCA	0.433																																					p.G903G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2709C	6						.						79.0	71.0	73.0					6																	102516368		2203	4300	6503	102623061	SO:0001819	synonymous_variant	2898	exon16				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.2709T>C	6.37:g.102516368T>C			102623061	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.433	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
BVES	11149	broad.mit.edu	37	6	105564596	105564596	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:105564596C>A	ENST00000314641.5	-	6	1012	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BVES_ENST00000446408.2_Missense_Mutation_p.D266Y|BVES_ENST00000336775.5_Missense_Mutation_p.D266Y	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	266					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.D266Y(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)				AAGGTGGGATCATTCAATGAG	0.279																																					p.D266Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G796T	6						.						73.0	68.0	69.0					6																	105564596		2202	4296	6498	105671289	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.796G>T	6.37:g.105564596C>A	ENSP00000313172:p.Asp266Tyr		105671289	NM_007073	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600182	0.87055	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.37752	1.18;1.18;1.18	5.55	5.55	0.83447	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.57929	-0.7726	10	0.87932	D	0	-33.8687	19.8623	0.96787	0.0:1.0:0.0:0.0	.	266	Q8NE79	POPD1_HUMAN	Y	266	ENSP00000313172:D266Y;ENSP00000337259:D266Y;ENSP00000397310:D266Y	ENSP00000313172:D266Y	D	-	1	0	BVES	105671289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.769000	0.95229	0.650000	0.86243	GAT		0.279	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
BVES	11149	broad.mit.edu	37	6	105581444	105581444	+	Nonsense_Mutation	SNP	A	A	C	rs144286946	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:105581444A>C	ENST00000314641.5	-	2	225	c.9T>G	c.(7-9)taT>taG	p.Y3*	BVES_ENST00000446408.2_Nonsense_Mutation_p.Y3*|BVES-AS1_ENST00000580511.1_RNA|BVES_ENST00000336775.5_Nonsense_Mutation_p.Y3*	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	3					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.Y3*(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)				TGGACTCTGTATAATTCATTT	0.323																																					p.Y3X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T9G	6						.						97.0	100.0	99.0					6																	105581444		2203	4300	6503	105688137	SO:0001587	stop_gained	11149	exon2			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.9T>G	6.37:g.105581444A>C	ENSP00000313172:p.Tyr3*		105688137	NM_007073	A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Nonsense_Mutation	SNP	ENST00000314641.5	37	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866546	0.91511	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	.	.	.	5.42	0.386	0.16254	.	1.574940	0.03092	N	0.159911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.213	2.853	0.05563	0.4389:0.115:0.3335:0.1127	.	.	.	.	X	3	.	ENSP00000313172:Y3X	Y	-	3	2	BVES	105688137	0.029000	0.19370	0.983000	0.44433	0.867000	0.49689	-0.186000	0.09670	0.070000	0.16634	-0.371000	0.07208	TAT		0.323	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147	
BEND3	57673	broad.mit.edu	37	6	107419781	107419781	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:107419781C>T	ENST00000369042.1	-	3	404	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	BEND3_ENST00000429433.2_Missense_Mutation_p.V72M			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	72								p.V72M(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTCCTCTTCACGCCGGGGACA	0.582																																					p.V72M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G214A	6						.						53.0	50.0	51.0					6																	107419781		2203	4300	6503	107526474	SO:0001583	missense	57673	exon4			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.214G>A	6.37:g.107419781C>T	ENSP00000358038:p.Val72Met		107526474	NM_001080450	A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370054	0.61624	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.86	5.86	0.93980	.	0.294692	0.27331	N	0.019849	T	0.26231	0.0640	N	0.24115	0.695	0.34887	D	0.745184	P	0.35174	0.488	B	0.28465	0.09	T	0.32268	-0.9913	9	0.59425	D	0.04	-6.5316	16.9016	0.86115	0.0:1.0:0.0:0.0	.	72	Q5T5X7	BEND3_HUMAN	M	72	.	ENSP00000358038:V72M	V	-	1	0	BEND3	107526474	1.000000	0.71417	0.948000	0.38648	0.798000	0.45092	4.470000	0.60175	2.771000	0.95319	0.650000	0.86243	GTG		0.582	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913	
SCML4	256380	broad.mit.edu	37	6	108042026	108042026	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:108042026G>A	ENST00000369020.3	-	6	1099	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SCML4_ENST00000369025.2_Missense_Mutation_p.A43V|SCML4_ENST00000369021.3_Missense_Mutation_p.A256V|SCML4_ENST00000369022.2_Missense_Mutation_p.A227V|SCML4_ENST00000479803.1_5'UTR	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A256V(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCAGCGGTGGCAGCAGGACC	0.647																																					p.A285V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C854T	6						.						44.0	52.0	49.0					6																	108042026		2203	4300	6503	108148719	SO:0001583	missense	256380	exon6				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.854C>T	6.37:g.108042026G>A	ENSP00000358016:p.Ala285Val		108148719	NM_198081	B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	7.885	0.731165	0.15507	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.48522	0.86;0.86;0.81	5.19	4.32	0.51571	.	0.379656	0.27139	N	0.020750	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B;B;B	0.29988	0.008;0.0;0.264	B;B;B	0.28011	0.016;0.002;0.085	T	0.13980	-1.0489	10	0.37606	T	0.19	.	16.0137	0.80422	0.0:0.1344:0.8656:0.0	.	285;285;256	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	V	227;43;285;256	ENSP00000358018:A227V;ENSP00000358016:A285V;ENSP00000358017:A256V	ENSP00000358016:A285V	A	-	2	0	SCML4	108148719	0.820000	0.29190	0.002000	0.10522	0.016000	0.09150	3.093000	0.50217	1.409000	0.46915	0.650000	0.86243	GCC		0.647	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128	
NR2E1	7101	broad.mit.edu	37	6	108502797	108502797	+	Missense_Mutation	SNP	G	G	A	rs200730208		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:108502797G>A	ENST00000368986.4	+	8	1645	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	NR2E1_ENST00000368983.3_Missense_Mutation_p.A350T	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	313	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.A313T(1)		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)		GAATGCTGCCGCCATTGCAGC	0.458																																					p.A313T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937A	6						.						132.0	121.0	124.0					6																	108502797		2203	4300	6503	108609490	SO:0001583	missense	7101	exon8			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.937G>A	6.37:g.108502797G>A	ENSP00000357982:p.Ala313Thr		108609490	NM_003269	Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970708	0.53614	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96885	-4.16;-4.16	5.97	5.97	0.96955	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.87771	0.6261	N	0.17379	0.485	0.80722	D	1	P	0.45634	0.863	B	0.32393	0.145	D	0.88241	0.2910	10	0.25751	T	0.34	.	20.4062	0.99009	0.0:0.0:1.0:0.0	.	313	Q9Y466	NR2E1_HUMAN	T	313;350	ENSP00000357982:A313T;ENSP00000357979:A350T	ENSP00000357979:A350T	A	+	1	0	NR2E1	108609490	1.000000	0.71417	0.972000	0.41901	0.787000	0.44495	9.404000	0.97306	2.831000	0.97527	0.655000	0.94253	GCC		0.458	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2		
CDC40	51362	broad.mit.edu	37	6	110533452	110533452	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:110533452C>A	ENST00000368932.1	+	8	945	c.844C>A	c.(844-846)Cat>Aat	p.H282N	CDC40_ENST00000307731.1_Missense_Mutation_p.H282N|CDC40_ENST00000368930.1_Missense_Mutation_p.H282N			O60508	PRP17_HUMAN	cell division cycle 40	282					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.H282N(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)		AAAACAAATTCATGTGTGGTC	0.398																																					p.H282N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844A	6						.						115.0	106.0	109.0					6																	110533452		2203	4300	6503	110640145	SO:0001583	missense	51362	exon7			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.844C>A	6.37:g.110533452C>A	ENSP00000357928:p.His282Asn		110640145	NM_015891	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974266	0.92919	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.043715	0.85682	D	0.000000	T	0.67211	0.2869	L	0.46947	1.48	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.67304	-0.5704	10	0.62326	D	0.03	-18.6193	20.1295	0.97995	0.0:1.0:0.0:0.0	.	282	O60508	PRP17_HUMAN	N	282	ENSP00000357928:H282N;ENSP00000357929:H282N;ENSP00000357926:H282N;ENSP00000304370:H282N	ENSP00000304370:H282N	H	+	1	0	CDC40	110640145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.758000	0.94735	0.591000	0.81541	CAT		0.398	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891	
SLC22A16	85413	broad.mit.edu	37	6	110763633	110763633	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:110763633G>A	ENST00000368919.3	-	4	1063	c.997C>T	c.(997-999)Cct>Tct	p.P333S	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.P333S|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P299S|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	333					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.P333S(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)	TTACTAACAGGACCTTGTAGG	0.413																																					p.P333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C997T	6						.						112.0	108.0	109.0					6																	110763633		2203	4300	6503	110870326	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.997C>T	6.37:g.110763633G>A	ENSP00000357915:p.Pro333Ser		110870326	NM_033125	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	4.550	0.102180	0.08731	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.78	-2.61	0.06171	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.683660	0.02710	N	0.112756	T	0.19685	0.0473	N	0.11064	0.09	0.09310	N	1	B;B	0.18461	0.028;0.023	B;B	0.22152	0.038;0.014	T	0.06625	-1.0816	10	0.10377	T	0.69	.	1.1907	0.01864	0.2314:0.1057:0.3484:0.3145	.	333;299	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	S	333;250;299;333;163;290	ENSP00000357915:P333S;ENSP00000395642:P250S;ENSP00000328583:P299S;ENSP00000408799:P333S;ENSP00000409306:P163S;ENSP00000416310:P290S	ENSP00000328583:P299S	P	-	1	0	SLC22A16	110870326	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.267000	0.18552	-0.144000	0.11314	0.655000	0.94253	CCT		0.413	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125	
RFPL4B	442247	broad.mit.edu	37	6	112671544	112671544	+	Missense_Mutation	SNP	G	G	T	rs148347745		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:112671544G>T	ENST00000441065.2	+	3	946	c.634G>T	c.(634-636)Gat>Tat	p.D212Y	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	212	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D212Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AATTTTCCTGGATGCTGACTT	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20614	0.0		0.0	False		,,,				2504	0.0				p.D212Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634T	6						.	G	TYR/ASP	3,4403	6.2+/-15.9	0,3,2200	70.0	66.0	67.0		634	3.6	0.0	6	dbSNP_134	67	0,8600		0,0,4300	no	missense	RFPL4B	NM_001013734.2	160	0,3,6500	TT,TG,GG		0.0,0.0681,0.0231	probably-damaging	212/264	112671544	3,13003	2203	4300	6503	112778237	SO:0001583	missense	442247	exon3			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.634G>T	6.37:g.112671544G>T	ENSP00000423391:p.Asp212Tyr		112778237	NM_001013734	A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222226	0.79464	6.81E-4	0.0	ENSG00000251258	ENST00000441065	D	0.81499	-1.5	4.48	3.59	0.41128	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.36002	N	0.002847	D	0.90789	0.7108	H	0.96576	3.845	0.31926	N	0.612869	D	0.89917	1.0	D	0.87578	0.998	D	0.90421	0.4417	10	0.87932	D	0	.	12.7351	0.57218	0.0:0.1669:0.8331:0.0	.	212	Q6ZWI9	RFPLB_HUMAN	Y	212	ENSP00000423391:D212Y	ENSP00000423391:D212Y	D	+	1	0	RFPL4B	112778237	1.000000	0.71417	0.006000	0.13384	0.609000	0.37215	5.263000	0.65507	1.453000	0.47775	0.655000	0.94253	GAT		0.453	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734	
FRK	2444	broad.mit.edu	37	6	116289807	116289807	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:116289807C>T	ENST00000606080.1	-	3	1008	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	FRK_ENST00000538210.1_Missense_Mutation_p.E46K	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	188	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.E188K(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)	CTCACAAATTCGTTCAGTGTT	0.403																																					p.E188K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	6						.						164.0	154.0	157.0					6																	116289807		2203	4300	6503	116396500	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.562G>A	6.37:g.116289807C>T	ENSP00000476145:p.Glu188Lys		116396500	NM_002031	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398374	0.25205	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.30182	1.54;1.54	5.88	4.01	0.46588	SH2 motif (5);	0.186083	0.36101	N	0.002793	T	0.16428	0.0395	M	0.75884	2.315	0.49798	D	0.999821	B	0.27229	0.172	B	0.17433	0.018	T	0.07654	-1.0761	10	0.48119	T	0.1	.	7.1687	0.25706	0.1384:0.7162:0.0:0.1453	.	188	P42685	FRK_HUMAN	K	188;46	ENSP00000357615:E188K;ENSP00000443075:E46K	ENSP00000357615:E188K	E	-	1	0	FRK	116396500	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	1.662000	0.37418	1.504000	0.48704	-0.218000	0.12543	GAA		0.403	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
RFX6	222546	broad.mit.edu	37	6	117240431	117240431	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:117240431G>A	ENST00000332958.2	+	11	1170	c.1154G>A	c.(1153-1155)cGa>cAa	p.R385Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	385					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R385Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCTCTGAAACGACAAACATCT	0.388																																					p.R385Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1154A	6						.						107.0	105.0	105.0					6																	117240431		2203	4300	6503	117347124	SO:0001583	missense	222546	exon11			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1154G>A	6.37:g.117240431G>A	ENSP00000332208:p.Arg385Gln		117347124	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765789	0.96914	.	.	ENSG00000185002	ENST00000332958	T	0.75704	-0.96	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87083	0.2167	10	0.87932	D	0	-14.9338	20.6721	0.99693	0.0:0.0:1.0:0.0	.	385	Q8HWS3	RFX6_HUMAN	Q	385	ENSP00000332208:R385Q	ENSP00000332208:R385Q	R	+	2	0	RFX6	117347124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.295000	0.96095	2.894000	0.99253	0.591000	0.81541	CGA		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
RFX6	222546	broad.mit.edu	37	6	117245835	117245835	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:117245835C>A	ENST00000332958.2	+	15	1575	c.1559C>A	c.(1558-1560)tCt>tAt	p.S520Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	520					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S520Y(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						AAACAAGGTTCTTTTCATTTG	0.393																																					p.S520Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1559A	6						.						131.0	127.0	128.0					6																	117245835		2203	4300	6503	117352528	SO:0001583	missense	222546	exon15			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1559C>A	6.37:g.117245835C>A	ENSP00000332208:p.Ser520Tyr		117352528	NM_173560	Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416899	0.83449	.	.	ENSG00000185002	ENST00000332958	T	0.64803	-0.12	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79969	0.4538	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82684	-0.0335	10	0.87932	D	0	-18.9274	19.3617	0.94442	0.0:1.0:0.0:0.0	.	520	Q8HWS3	RFX6_HUMAN	Y	520	ENSP00000332208:S520Y	ENSP00000332208:S520Y	S	+	2	0	RFX6	117352528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.398000	0.79919	2.646000	0.89796	0.655000	0.94253	TCT		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560	
MCM9	254394	broad.mit.edu	37	6	119245025	119245025	+	Missense_Mutation	SNP	G	G	A	rs182397736	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:119245025G>A	ENST00000316316.6	-	3	858	c.572C>T	c.(571-573)tCg>tTg	p.S191L	MCM9_ENST00000316068.3_Missense_Mutation_p.S191L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	191					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.S191L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGTTGGAGACGAAGACAAGCC	0.423													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20280	0.0		0.0	False		,,,				2504	0.0				p.S191L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C572T	6						.						90.0	87.0	88.0					6																	119245025		2203	4300	6503	119286724	SO:0001583	missense	254394	exon3			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.572C>T	6.37:g.119245025G>A	ENSP00000314505:p.Ser191Leu		119286724	NM_153255	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	CCDS56447.1	4	0.0018315018315018315	0	0.0	4	0.011049723756906077	0	0.0	0	0.0	G	18.93	3.727891	0.69074	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.74;3.34	5.55	5.55	0.83447	.	.	.	.	.	T	0.02610	0.0079	L	0.52126	1.63	0.50632	D	0.999884	B	0.26708	0.157	B	0.19391	0.025	T	0.37291	-0.9712	9	0.13108	T	0.6	.	12.0593	0.53555	0.0789:0.0:0.9211:0.0	.	191	Q9NXL9-2	.	L	191	ENSP00000314505:S191L;ENSP00000312870:S191L	ENSP00000312870:S191L	S	-	2	0	MCM9	119286724	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.821000	0.69257	2.607000	0.88179	0.563000	0.77884	TCG		0.423	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
FAM184A	79632	broad.mit.edu	37	6	119301498	119301498	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:119301498C>A	ENST00000338891.7	-	10	2549	c.2106G>T	c.(2104-2106)caG>caT	p.Q702H	FAM184A_ENST00000352896.5_Missense_Mutation_p.Q582H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q582H|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q702H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	702						extracellular space (GO:0005615)		p.Q702H(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						TCTCCAGATTCTGTTTCAGCA	0.438																																					p.Q702H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2106T	6						.						60.0	58.0	58.0					6																	119301498		1859	4115	5974	119343197	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.2106G>T	6.37:g.119301498C>A	ENSP00000342604:p.Gln702His		119343197	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895953	0.72639	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	6.17	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.994;0.979;0.996	T	0.45011	-0.9290	10	0.87932	D	0	-8.371	9.3135	0.37919	0.0:0.7502:0.121:0.1288	.	702;582;702	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	702;582;582;702	ENSP00000342604:Q702H;ENSP00000326608:Q582H;ENSP00000357460:Q582H;ENSP00000430442:Q702H	ENSP00000342604:Q702H	Q	-	3	2	FAM184A	119343197	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.849000	0.39318	0.944000	0.37579	0.655000	0.94253	CAG		0.438	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119332524	119332524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:119332524C>A	ENST00000338891.7	-	6	2046	c.1603G>T	c.(1603-1605)Gaa>Taa	p.E535*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E415*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E415*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E415*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E535*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	535						extracellular space (GO:0005615)		p.E535*(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						TTTAGGTTTTCTAGCTCTTGT	0.299																																					p.E535X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1603T	6						.						135.0	127.0	129.0					6																	119332524		1811	4069	5880	119374223	SO:0001587	stop_gained	79632	exon6			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.1603G>T	6.37:g.119332524C>A	ENSP00000342604:p.Glu535*		119374223	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.509561|2.509561	0.44660|0.44660	.|.	.|.	ENSG00000111879|ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284|ENST00000448815	.|.	.|.	.|.	5.1|5.1	4.23|4.23	0.50019|0.50019	.|.	0.104089|.	0.64402|.	D|.	0.000004|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.34782|.	T|.	0.22|.	-15.6655|-15.6655	13.4189|13.4189	0.60985|0.60985	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	.|.	.|.	.|.	X|Y	535;415;415;535;415|120	.|.	ENSP00000342604:E535X|.	E|X	-|-	1|3	0|2	FAM184A|FAM184A	119374223|119374223	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.563000|0.563000	0.35712|0.35712	6.173000|6.173000	0.71937|0.71937	1.375000|1.375000	0.46248|0.46248	0.484000|0.484000	0.47621|0.47621	GAA|TAG		0.299	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
FAM184A	79632	broad.mit.edu	37	6	119345888	119345888	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:119345888G>T	ENST00000338891.7	-	2	693	c.250C>A	c.(250-252)Ctt>Att	p.L84I	FAM184A_ENST00000352896.5_5'UTR|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_5'UTR|FAM184A_ENST00000522284.1_5'UTR|FAM184A_ENST00000521531.1_Missense_Mutation_p.L84I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	84						extracellular space (GO:0005615)		p.L84I(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						GTTTCAGCAAGAATTTGTTGA	0.323																																					p.L84I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250A	6						.						70.0	63.0	65.0					6																	119345888		1821	4083	5904	119387587	SO:0001583	missense	79632	exon2			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.250C>A	6.37:g.119345888G>T	ENSP00000342604:p.Leu84Ile		119387587	NM_024581	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402508	0.42613	.	.	ENSG00000111879	ENST00000338891;ENST00000521531	T;T	0.30182	1.54;1.54	5.82	4.95	0.65309	.	0.070737	0.64402	D	0.000020	T	0.14787	0.0357	L	0.56769	1.78	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.05146	-1.0903	10	0.24483	T	0.36	-7.598	10.5271	0.44954	0.0687:0.0:0.7981:0.1333	.	84	Q8NB25	F184A_HUMAN	I	84	ENSP00000342604:L84I;ENSP00000430442:L84I	ENSP00000342604:L84I	L	-	1	0	FAM184A	119387587	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.172000	0.42463	1.478000	0.48253	0.655000	0.94253	CTT		0.323	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	broad.mit.edu	37	6	121577398	121577398	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:121577398C>T	ENST00000398212.2	-	16	1816	c.1767G>A	c.(1765-1767)tcG>tcA	p.S589S	TBC1D32_ENST00000275159.6_Silent_p.S589S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	589					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.S589S(1)									GAAGTTTTTTCGAAAACTGGG	0.338																																					p.S589S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1767A	6						.						45.0	40.0	42.0					6																	121577398		1803	4080	5883	121619097	SO:0001819	synonymous_variant	221322	exon16			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.1767G>A	6.37:g.121577398C>T			121619097	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																				0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TBC1D32	221322	broad.mit.edu	37	6	121600356	121600356	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:121600356A>G	ENST00000398212.2	-	15	1693	c.1644T>C	c.(1642-1644)caT>caC	p.H548H	TBC1D32_ENST00000275159.6_Silent_p.H548H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	548					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.H548H(1)									TACCAGCTATATGAATTAAAG	0.338																																					p.H548H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1644C	6						.						64.0	63.0	63.0					6																	121600356		1810	4080	5890	121642055	SO:0001819	synonymous_variant	221322	exon15			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.1644T>C	6.37:g.121600356A>G			121642055	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																				0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
FABP7	2173	broad.mit.edu	37	6	123104893	123104893	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:123104893G>A	ENST00000368444.3	+	4	700	c.380G>A	c.(379-381)cGc>cAc	p.R127H		NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	127	Fatty acid binding.				cell proliferation in forebrain (GO:0021846)|epithelial cell proliferation (GO:0050673)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|prepulse inhibition (GO:0060134)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R127H(1)		kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|Dihomo-gamma-linolenic acid(DB00154)|Icosapent(DB00159)	GTTGCTGTTCGCCACTATGAG	0.403																																					p.R127H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G380A	6						.						167.0	159.0	162.0					6																	123104893		2203	4300	6503	123146592	SO:0001583	missense	2173	exon4			D88648	CCDS5127.1	6q22-q23	2013-03-01			ENSG00000164434	ENSG00000164434		"""Fatty acid binding protein family"""	3562	protein-coding gene	gene with protein product	"""brain lipid binding protein"""	602965				9375786	Standard	NM_001446		Approved	B-FABP, BLBP	uc003pzf.3	O15540	OTTHUMG00000015489	ENST00000368444.3:c.380G>A	6.37:g.123104893G>A	ENSP00000357429:p.Arg127His		123146592	NM_001446	B2R4L1|O14951|Q6IAU7|Q9H047	Missense_Mutation	SNP	ENST00000368444.3	37	CCDS5127.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262460	0.95368	.	.	ENSG00000164434	ENST00000368444	T	0.60171	0.21	5.4	5.4	0.78164	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.78336	0.4267	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82010	-0.0669	9	0.87932	D	0	.	19.5193	0.95179	0.0:0.0:1.0:0.0	.	127	O15540	FABP7_HUMAN	H	127	ENSP00000357429:R127H	ENSP00000357429:R127H	R	+	2	0	FABP7	123146592	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.357000	0.79456	2.689000	0.91719	0.462000	0.41574	CGC		0.403	FABP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042037.1	NM_001446	
LAMA2	3908	broad.mit.edu	37	6	129794399	129794399	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:129794399G>A	ENST00000421865.2	+	52	7390	c.7341G>A	c.(7339-7341)gaG>gaA	p.E2447E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2447	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E2447E(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)		ATCAGGAGGAGAATATAGCAA	0.348																																					p.E2447E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7341A	6						.						71.0	70.0	70.0					6																	129794399		2203	4300	6503	129836092	SO:0001819	synonymous_variant	3908	exon52			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.7341G>A	6.37:g.129794399G>A			129836092	NM_001079823	Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	CCDS5138.1																																																																																				0.348	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
L3MBTL3	84456	broad.mit.edu	37	6	130389489	130389489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:130389489G>T	ENST00000529410.1	+	14	1494	c.1015G>T	c.(1015-1017)Gaa>Taa	p.E339*	L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.E339*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.E314*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.E339*|L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.E314*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.E314*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	339					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.E339*(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)		TAAAGAAGAAGAATTCAATTG	0.328																																					p.E339X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1015T	6						.						106.0	107.0	107.0					6																	130389489		2203	4297	6500	130431182	SO:0001587	stop_gained	84456	exon12			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.1015G>T	6.37:g.130389489G>T	ENSP00000431962:p.Glu339*		130431182	NM_032438	Q4VXE1|Q5VUM9|Q6P9B5	Nonsense_Mutation	SNP	ENST00000529410.1	37	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464700	0.97590	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	.	.	.	X	339;314;339;314;314;339	.	ENSP00000354526:E339X	E	+	1	0	L3MBTL3	130431182	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.729000	0.98795	2.687000	0.91594	0.557000	0.71058	GAA		0.328	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	
ENPP1	5167	broad.mit.edu	37	6	132207858	132207858	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:132207858C>T	ENST00000360971.2	+	24	2621	c.2601C>T	c.(2599-2601)agC>agT	p.S867S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	867	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.S815S(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)	ACAGCGAGAGCTGTGTGGTAA	0.388																																					p.S867S	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2601T	6						.						112.0	103.0	106.0					6																	132207858		2203	4300	6503	132249551	SO:0001819	synonymous_variant	5167	exon24			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.2601C>T	6.37:g.132207858C>T			132249551	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																				0.388	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-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:132793477C>A	ENST00000367941.2	-	4	306	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Nonsense_Mutation_p.E65*	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		
TAAR5	9038	broad.mit.edu	37	6	132909837	132909837	+	Missense_Mutation	SNP	C	C	T	rs145127866	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:132909837C>T	ENST00000258034.2	-	1	1040	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	330			R -> C (in dbSNP:rs35839363).		G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.R330H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCAACAGTGCGTGTCTGCGG	0.493																																					p.R330H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	6						.	C	HIS/ARG	0,4406	2.1+/-5.4	0,0,2203	92.0	85.0	87.0		989	2.6	0.1	6	dbSNP_134	87	8,8592	6.4+/-24.3	0,8,4292	yes	missense	TAAR5	NM_003967.2	29	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	benign	330/338	132909837	8,12998	2203	4300	6503	132951530	SO:0001583	missense	9038	exon1			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.989G>A	6.37:g.132909837C>T	ENSP00000258034:p.Arg330His		132951530	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.009	-0.001075	0.07819	0.0	9.3E-4	ENSG00000135569	ENST00000258034	T	0.70869	-0.52	5.34	2.59	0.31030	.	0.610822	0.14696	N	0.303863	T	0.26810	0.0656	N	0.17474	0.49	0.09310	N	1	P	0.36495	0.556	B	0.30179	0.112	T	0.04915	-1.0918	10	0.42905	T	0.14	-1.3902	5.4498	0.16556	0.0733:0.2735:0.5219:0.1313	.	330	O14804	TAAR5_HUMAN	H	330	ENSP00000258034:R330H	ENSP00000258034:R330H	R	-	2	0	TAAR5	132951530	0.000000	0.05858	0.137000	0.22149	0.119000	0.20118	0.025000	0.13577	0.377000	0.24735	-0.344000	0.07964	CGC		0.493	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
SGK1	6446	broad.mit.edu	37	6	134638589	134638589	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:134638589T>C	ENST00000367858.5	-	1	607	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	SGK1_ENST00000524929.1_Missense_Mutation_p.K4E	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.K4E(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)		TTCATGTCTTTGTTTACCATT	0.438																																					p.K4E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10G	6						.						180.0	163.0	168.0					6																	134638589		1568	3582	5150	134680282	SO:0001583	missense	6446	exon1			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.10A>G	6.37:g.134638589T>C	ENSP00000356832:p.Lys4Glu		134680282	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	37	CCDS47476.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213976	0.79352	.	.	ENSG00000118515	ENST00000367858;ENST00000524929;ENST00000533224	T	0.75367	-0.93	5.26	5.26	0.73747	.	0.000000	0.34245	N	0.004135	D	0.82403	0.5029	.	.	.	0.35345	D	0.78679	D;B	0.69078	0.997;0.062	D;B	0.69654	0.965;0.031	D	0.86440	0.1766	9	0.87932	D	0	.	15.1662	0.72828	0.0:0.0:0.0:1.0	.	4;4	Q7Z3I4;O00141-2	.;.	E	4	ENSP00000356832:K4E	ENSP00000356832:K4E	K	-	1	0	SGK1	134680282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.826000	0.55738	1.995000	0.58328	0.482000	0.46254	AAA		0.438	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2		
AHI1	54806	broad.mit.edu	37	6	135679300	135679300	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:135679300A>C	ENST00000367800.4	-	22	3351	c.3135T>G	c.(3133-3135)ccT>ccG	p.P1045P	AHI1_ENST00000417892.2_Silent_p.P399P|AHI1_ENST00000457866.2_Silent_p.P1045P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1045					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.P1045P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGGTTACAAGGCTTTCTTT	0.343																																					p.P1045P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3135G	6						.						301.0	296.0	297.0					6																	135679300		1867	4103	5970	135720993	SO:0001819	synonymous_variant	54806	exon23			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3135T>G	6.37:g.135679300A>C			135720993	NM_017651	E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	A	8.018	0.758985	0.15846	.	.	ENSG00000135541	ENST00000367799	.	.	.	5.4	1.38	0.22167	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20773	-1.0265	4	.	.	.	-8.9277	5.261	0.15573	0.6518:0.0:0.0745:0.2738	.	.	.	.	R	545	.	.	L	-	2	0	AHI1	135720993	0.991000	0.36638	0.984000	0.44739	0.792000	0.44763	1.656000	0.37355	0.424000	0.26061	0.455000	0.32223	CTT		0.343	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	
SIRT5	23408	broad.mit.edu	37	6	13588578	13588578	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:13588578G>A	ENST00000606117.1	+	4	427	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	SIRT5_ENST00000359782.3_Missense_Mutation_p.R44Q|SIRT5_ENST00000397350.2_Intron|SIRT5_ENST00000379262.4_Missense_Mutation_p.R44Q	NM_012241.4	NP_036373.1			sirtuin 5									p.R44Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCAGATTTTCGAAAGTTTTTT	0.403																																					p.R44Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G131A	6						.						102.0	96.0	98.0					6																	13588578		2203	4300	6503	13696557	SO:0001583	missense	23408	exon4			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.131G>A	6.37:g.13588578G>A	ENSP00000476228:p.Arg44Gln		13696557	NM_001193267		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106034	0.77096	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.41758	0.99;0.99;0.99	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.43646	1.37	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.55222	0.771;0.733;0.705	T	0.10965	-1.0607	10	0.33141	T	0.24	-19.5395	17.7879	0.88543	0.0:0.0:1.0:0.0	.	44;44;44	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	44	ENSP00000352830:R44Q;ENSP00000368564:R44Q;ENSP00000368552:R44Q	ENSP00000352830:R44Q	R	+	2	0	SIRT5	13696557	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.466000	0.80914	2.287000	0.76781	0.585000	0.79938	CGA		0.403	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2		
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000544465.1_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000438100.2_Missense_Mutation_p.S253L	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	268					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.S268L(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)		TCGATCCATCGAATTTCTAGA	0.512																																					p.S290L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C869T	6						.						206.0	180.0	189.0					6																	136693712		2203	4300	6503	136735405	SO:0001583	missense	9053	exon9			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.803C>T	6.37:g.136693712G>A	ENSP00000346581:p.Ser268Leu		136735405	NM_001198614	B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270146	0.23221	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.67	3.83	0.44106	.	0.763445	0.11544	N	0.553417	T	0.01523	0.0049	N	0.05351	-0.065	0.23082	N	0.998324	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001;0.001;0.0	T	0.47222	-0.9134	10	0.27785	T	0.31	-0.12	11.0815	0.48062	0.1542:0.0:0.8458:0.0	.	253;290;253;290;290;174;231;268	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	L	268;290;253;253;122;174	ENSP00000346581:S268L;ENSP00000414712:S290L;ENSP00000445737:S253L;ENSP00000400790:S253L;ENSP00000414879:S122L	ENSP00000344217:S174L	S	-	2	0	MAP7	136735405	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	2.910000	0.48766	1.336000	0.45506	0.591000	0.81541	TCG		0.512	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
ECT2L	345930	broad.mit.edu	37	6	139206654	139206654	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:139206654G>T	ENST00000423192.1	+	16	2201	c.2040G>T	c.(2038-2040)atG>atT	p.M680I	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Missense_Mutation_p.M680I			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	680	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M680I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGAGAAATGATACCAGCAT	0.443			"""N, Splice, Mis"""		ETP ALL																																p.M680I			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2040T	6						.						105.0	99.0	101.0					6																	139206654		1915	4125	6040	139248347	SO:0001583	missense	345930	exon17				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2040G>T	6.37:g.139206654G>T	ENSP00000387388:p.Met680Ile		139248347	NM_001077706	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955764	0.18507	.	.	ENSG00000203734	ENST00000423192;ENST00000367682	T;T	0.29142	1.58;1.58	5.3	2.59	0.31030	Dbl homology (DH) domain (5);	0.325021	0.18440	U	0.141162	T	0.08044	0.0201	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30060	-0.9991	10	0.49607	T	0.09	2.5451	4.779	0.13192	0.2594:0.1573:0.5833:0.0	.	680	Q008S8	ECT2L_HUMAN	I	680	ENSP00000387388:M680I;ENSP00000356655:M680I	ENSP00000356655:M680I	M	+	3	0	ECT2L	139248347	0.000000	0.05858	0.002000	0.10522	0.966000	0.64601	0.400000	0.20932	0.259000	0.21709	-0.136000	0.14681	ATG		0.443	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
HIVEP2	3097	broad.mit.edu	37	6	143093232	143093232	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:143093232G>A	ENST00000367604.1	-	4	3283	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R882W|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R882W			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	882					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.R882W(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)		TTGTGTTGCCGAACTAGCCTG	0.562																																					p.R882W	Esophageal Squamous(107;843 1510 13293 16805 42198)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2644T	6						.						77.0	83.0	81.0					6																	143093232		2073	4223	6296	143134925	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.2644C>T	6.37:g.143093232G>A	ENSP00000356576:p.Arg882Trp		143134925	NM_006734	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658183	0.88154	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.53423	0.62;0.62;0.62	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69717	0.3142	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74717	-0.3571	10	0.87932	D	0	-28.358	19.3961	0.94607	0.0:0.0:1.0:0.0	.	882	P31629	ZEP2_HUMAN	W	882	ENSP00000356576:R882W;ENSP00000356575:R882W;ENSP00000012134:R882W	ENSP00000012134:R882W	R	-	1	2	HIVEP2	143134925	1.000000	0.71417	0.995000	0.50966	0.837000	0.47467	7.941000	0.87700	2.598000	0.87819	0.591000	0.81541	CGG		0.562	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
PEX3	8504	broad.mit.edu	37	6	143800288	143800288	+	Missense_Mutation	SNP	C	C	A	rs35288644		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:143800288C>A	ENST00000367591.4	+	10	957	c.894C>A	c.(892-894)ttC>ttA	p.F298L		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	298					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.F298L(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)		TGGCTGAGTTCTTTCGACCTA	0.333																																					p.F298L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C894A	6						.						97.0	94.0	95.0					6																	143800288		2203	4300	6503	143841981	SO:0001583	missense	8504	exon10			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.894C>A	6.37:g.143800288C>A	ENSP00000356563:p.Phe298Leu		143841981	NM_003630	Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691031	0.68271	.	.	ENSG00000034693	ENST00000367591	T	0.41065	1.01	5.65	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.56769	1.78	0.58432	D	0.999997	D	0.61080	0.989	P	0.57620	0.824	T	0.20706	-1.0267	10	0.12766	T	0.61	-16.4617	10.2766	0.43515	0.0:0.6705:0.0:0.3295	.	298	P56589	PEX3_HUMAN	L	298	ENSP00000356563:F298L	ENSP00000356563:F298L	F	+	3	2	PEX3	143841981	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.635000	0.24629	0.863000	0.35553	0.650000	0.86243	TTC		0.333	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1		
LTV1	84946	broad.mit.edu	37	6	144184235	144184235	+	Nonsense_Mutation	SNP	C	C	T	rs201919461		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:144184235C>T	ENST00000367576.5	+	10	1263	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	377						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R377*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CAAACAAATTCGAATATCTTC	0.328																																					p.R377X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1129T	6						.	C	stop/ARG	0,4406		0,0,2203	77.0	81.0	80.0		1129	4.7	0.8	6		80	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	LTV1	NM_032860.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		377/476	144184235	1,13005	2203	4300	6503	144225928	SO:0001587	stop_gained	84946	exon10			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.1129C>T	6.37:g.144184235C>T	ENSP00000356548:p.Arg377*		144225928	NM_032860	Q96JX8	Nonsense_Mutation	SNP	ENST00000367576.5	37	CCDS5201.1	.	.	.	.	.	.	.	.	.	.	C	37	5.980441	0.97168	0.0	1.16E-4	ENSG00000135521	ENST00000367576	.	.	.	5.61	4.72	0.59763	.	0.645091	0.16450	N	0.213887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.512	13.6837	0.62502	0.3376:0.6624:0.0:0.0	.	.	.	.	X	377	.	ENSP00000356548:R377X	R	+	1	2	LTV1	144225928	0.755000	0.28372	0.787000	0.31911	0.834000	0.47266	1.738000	0.38207	1.329000	0.45376	0.585000	0.79938	CGA		0.328	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860	
UTRN	7402	broad.mit.edu	37	6	144843176	144843176	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:144843176C>T	ENST00000367545.3	+	39	5602	c.5602C>T	c.(5602-5604)Ctt>Ttt	p.L1868F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1868					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.L1868F(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)		ATCATCACTTCTTCCTACAGA	0.313																																					p.L1868F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5602T	6						.						130.0	139.0	136.0					6																	144843176		2203	4300	6503	144884869	SO:0001583	missense	7402	exon39			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.5602C>T	6.37:g.144843176C>T	ENSP00000356515:p.Leu1868Phe		144884869	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869191	0.32977	.	.	ENSG00000152818	ENST00000367545	T	0.60299	0.2	5.7	5.7	0.88788	.	0.000000	0.47852	D	0.000201	T	0.28101	0.0693	L	0.44542	1.39	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.09640	-1.0665	10	0.09590	T	0.72	.	10.8695	0.46875	0.0:0.8859:0.0:0.1141	.	1868	P46939	UTRO_HUMAN	F	1868	ENSP00000356515:L1868F	ENSP00000356515:L1868F	L	+	1	0	UTRN	144884869	0.748000	0.28294	0.828000	0.32881	0.470000	0.32858	1.974000	0.40559	2.696000	0.92011	0.561000	0.74099	CTT		0.313	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SASH1	23328	broad.mit.edu	37	6	148846459	148846459	+	Silent	SNP	G	G	A	rs373832720		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:148846459G>A	ENST00000367467.3	+	11	1717	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	AL033378.1_ENST00000411390.2_RNA	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	414					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.T414T(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TTGACTTGACGAATCGCTCTC	0.458																																					p.T414T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1242A	6						.	G		1,4405	2.1+/-5.4	0,1,2202	216.0	199.0	205.0		1242	-11.3	0.0	6		205	0,8600		0,0,4300	no	coding-synonymous	SASH1	NM_015278.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		414/1248	148846459	1,13005	2203	4300	6503	148888152	SO:0001819	synonymous_variant	23328	exon11			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1242G>A	6.37:g.148846459G>A			148888152	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	ENST00000367467.3	37	CCDS5212.1																																																																																				0.458	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
SYNE1	23345	broad.mit.edu	37	6	152737784	152737784	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:152737784G>T	ENST00000367255.5	-	41	6389	c.5788C>A	c.(5788-5790)Ctt>Att	p.L1930I	SYNE1_ENST00000265368.4_Missense_Mutation_p.L1930I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1937I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1967I|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1937I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1930					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.L1930I(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)		GCTTTGGAAAGAATGCCATCC	0.458										HNSCC(10;0.0054)																											p.L1937I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5809A	6						.						105.0	102.0	103.0					6																	152737784		2203	4300	6503	152779477	SO:0001583	missense	23345	exon41			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.5788C>A	6.37:g.152737784G>T	ENSP00000356224:p.Leu1930Ile		152779477	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	17.81	3.481588	0.63849	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000032	T	0.56848	0.2013	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.98	D;D;D;P	0.80764	0.994;0.939;0.939;0.736	T	0.48163	-0.9059	10	0.40728	T	0.16	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1913;1930;1930;1937	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	1930;1937;1930;1937;1967	ENSP00000356224:L1930I;ENSP00000396024:L1937I;ENSP00000265368:L1930I;ENSP00000390975:L1937I;ENSP00000341887:L1967I	ENSP00000265368:L1930I	L	-	1	0	SYNE1	152779477	1.000000	0.71417	0.132000	0.22025	0.563000	0.35712	7.954000	0.87848	2.941000	0.99782	0.655000	0.94253	CTT		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
RGS17	26575	broad.mit.edu	37	6	153332811	153332811	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:153332811C>T	ENST00000367225.2	-	4	555	c.531G>A	c.(529-531)caG>caA	p.Q177Q	RGS17_ENST00000206262.1_Silent_p.Q177Q			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	177	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q177Q(1)|p.Q177H(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AAGTATATATCTGAAGTTGGG	0.353																																					p.Q177Q	Esophageal Squamous(78;500 1236 6775 24364 49058)											.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|large_intestine(1)	c.G531A	6						.						60.0	60.0	60.0					6																	153332811		2203	4300	6503	153374504	SO:0001819	synonymous_variant	26575	exon5			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.531G>A	6.37:g.153332811C>T			153374504	NM_012419	Q5TF49|Q8TD61|Q9UJS8	Silent	SNP	ENST00000367225.2	37	CCDS5244.1																																																																																				0.353	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2		
TAGAP	117289	broad.mit.edu	37	6	159457181	159457181	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:159457181G>A	ENST00000367066.3	-	10	2205	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.A447V|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	625					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A625V(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAGCATCCTCGCCCTCATGCT	0.647																																					p.A625V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1874T	6						.						71.0	67.0	68.0					6																	159457181		2203	4300	6503	159377169	SO:0001583	missense	117289	exon10			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1874C>T	6.37:g.159457181G>A	ENSP00000356033:p.Ala625Val		159377169	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169119	0.57584	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.18810	2.19;2.44	5.68	4.73	0.59995	.	0.471562	0.20715	N	0.087006	T	0.08802	0.0218	M	0.67953	2.075	0.22446	N	0.999093	P	0.39352	0.669	B	0.24269	0.052	T	0.09185	-1.0686	10	0.48119	T	0.1	-24.029	10.4658	0.44607	0.0791:0.0:0.7568:0.164	.	625	Q8N103	TAGAP_HUMAN	V	625;447	ENSP00000356033:A625V;ENSP00000322650:A447V	ENSP00000322650:A447V	A	-	2	0	TAGAP	159377169	0.001000	0.12720	0.303000	0.25071	0.056000	0.15407	0.629000	0.24538	2.676000	0.91093	0.563000	0.77884	GCG		0.647	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
WTAP	9589	broad.mit.edu	37	6	160160025	160160025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:160160025C>T	ENST00000358372.4	+	3	1791	c.34C>T	c.(34-36)Cga>Tga	p.R12*	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Nonsense_Mutation_p.R12*	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	160200077	160200077	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:160200077T>G	ENST00000321394.7	-	12	1951	c.1671A>C	c.(1669-1671)tgA>tgC	p.*557C	ACAT2_ENST00000367048.4_3'UTR|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000420894.2_3'UTR|ACAT2_ENST00000472052.1_3'UTR|TCP1_ENST00000392168.2_Nonstop_Mutation_p.*402C|ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000544255.1_Nonstop_Mutation_p.*333C	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	0					'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.*557C(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)		GAACATCAGATCAATCATTAA	0.313																																					p.X557C												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1671C	6						.						54.0	55.0	55.0					6																	160200077		2203	4299	6502	160120067	SO:0001578	stop_lost	6950	exon12			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.1671A>C	6.37:g.160200077T>G	ENSP00000317334:p.*557Trpext*18		160120067	NM_030752	E1P5B2|Q15556|Q5TCM3	Read-through	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210089	0.58343	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000392168	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9941	0.80228	0.0:0.0:0.0:1.0	.	.	.	.	C	557;333;402	.	.	X	-	3	0	TCP1	160120067	0.998000	0.40836	0.993000	0.49108	0.464000	0.32679	3.047000	0.49854	2.190000	0.69967	0.454000	0.30748	TGA		0.313	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
MAS1	4142	broad.mit.edu	37	6	160328349	160328349	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:160328349A>G	ENST00000252660.4	+	1	376	c.362A>G	c.(361-363)tAt>tGt	p.Y121C		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	121					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.Y121C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ACGGGCCTCTATCTGCTGACG	0.488																																					p.Y121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A362G	6						.						139.0	130.0	133.0					6																	160328349		2203	4300	6503	160248339	SO:0001583	missense	4142	exon1			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.362A>G	6.37:g.160328349A>G	ENSP00000252660:p.Tyr121Cys		160248339	NM_002377	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997183	0.54147	.	.	ENSG00000130368	ENST00000252660	T	0.37752	1.18	5.65	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.130465	0.34906	N	0.003590	T	0.25005	0.0607	L	0.28608	0.87	0.41145	D	0.98598	D	0.59357	0.985	P	0.58454	0.839	T	0.06092	-1.0846	10	0.38643	T	0.18	.	7.9945	0.30261	0.8432:0.0:0.1568:0.0	.	121	P04201	MAS_HUMAN	C	121	ENSP00000252660:Y121C	ENSP00000252660:Y121C	Y	+	2	0	MAS1	160248339	0.986000	0.35501	0.804000	0.32291	0.991000	0.79684	2.758000	0.47565	0.979000	0.38497	0.533000	0.62120	TAT		0.488	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377	
IGF2R	3482	broad.mit.edu	37	6	160468929	160468929	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:160468929G>A	ENST00000356956.1	+	17	2483	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	779					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.D779N(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)	GGAGCAGTACGACCTCTCCAG	0.577																																					p.D779N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2335A	6						.						88.0	73.0	78.0					6																	160468929		2203	4300	6503	160388919	SO:0001583	missense	3482	exon17			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.2335G>A	6.37:g.160468929G>A	ENSP00000349437:p.Asp779Asn		160388919	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065174	0.76187	.	.	ENSG00000197081	ENST00000356956	T	0.15017	2.46	5.14	5.14	0.70334	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41124	-0.9526	10	0.49607	T	0.09	-7.7925	18.6253	0.91334	0.0:0.0:1.0:0.0	.	779	P11717	MPRI_HUMAN	N	779	ENSP00000349437:D779N	ENSP00000349437:D779N	D	+	1	0	IGF2R	160388919	1.000000	0.71417	0.907000	0.35723	0.179000	0.23085	9.455000	0.97625	2.407000	0.81776	0.561000	0.74099	GAC		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
MAP3K4	4216	broad.mit.edu	37	6	161527593	161527593	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:161527593C>T	ENST00000392142.4	+	20	4052	c.3904C>T	c.(3904-3906)Cga>Tga	p.R1302*	MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.R1298*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.R1252*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.R1248*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1302					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.R1301*(1)|p.R1302*(1)		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)		GAAGTCAGTCCGATTGTTTGA	0.403																																					p.R1252X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3754T	6						.						117.0	108.0	111.0					6																	161527593		2203	4300	6503	161447583	SO:0001587	stop_gained	4216	exon19			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.3904C>T	6.37:g.161527593C>T	ENSP00000375986:p.Arg1302*		161447583	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	43	10.499508	0.99416	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	4.95	4.95	0.65309	.	0.177320	0.38058	N	0.001826	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7574	13.2058	0.59795	0.1592:0.8408:0.0:0.0	.	.	.	.	X	1252;1302;1252;1298;1248	.	ENSP00000297332:R1248X	R	+	1	2	MAP3K4	161447583	0.968000	0.33430	0.991000	0.47740	0.950000	0.60333	3.853000	0.55941	2.271000	0.75665	0.650000	0.86243	CGA		0.403	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
PARK2	5071	broad.mit.edu	37	6	162475138	162475138	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:162475138G>A	ENST00000366898.1	-	5	705	c.603C>T	c.(601-603)tgC>tgT	p.C201C	PARK2_ENST00000366892.1_Silent_p.C201C|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000338468.3_Silent_p.C10C|PARK2_ENST00000366894.1_Silent_p.C10C|PARK2_ENST00000366896.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	201					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.C201C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TAGTCCCAGGGCAGTGTGGGG	0.408																																					p.C201C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	6						.						143.0	126.0	132.0					6																	162475138		2203	4300	6503	162395128	SO:0001819	synonymous_variant	5071	exon5				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.603C>T	6.37:g.162475138G>A			162395128	NM_004562	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	CCDS5281.1																																																																																				0.408	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
C6orf118	168090	broad.mit.edu	37	6	165723058	165723058	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:165723058C>T	ENST00000230301.8	-	1	38	c.18G>A	c.(16-18)gaG>gaA	p.E6E	C6orf118_ENST00000543069.1_5'Flank	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	6								p.E6E(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TACATTCAGGCTCCCGCTCCT	0.547																																					p.E6E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G18A	6						.						81.0	74.0	77.0					6																	165723058		2203	4300	6503	165643048	SO:0001819	synonymous_variant	168090	exon1				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.18G>A	6.37:g.165723058C>T			165643048	NM_144980	Q8TC11	Silent	SNP	ENST00000230301.8	37	CCDS5288.1																																																																																				0.547	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
TUBB2A	7280	broad.mit.edu	37	6	3154140	3154140	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:3154140T>C	ENST00000333628.3	-	4	1357	c.1295A>G	c.(1294-1296)gAa>gGa	p.E432G	TUBB2A_ENST00000489942.1_5'Flank|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	432					'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)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E432G(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTCCCCTTGTTCGTCGGCCGT	0.567																																					p.E432G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1295G	6						.						115.0	94.0	101.0					6																	3154140		2203	4300	6503	3099139	SO:0001583	missense	7280	exon4			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.1295A>G	6.37:g.3154140T>C	ENSP00000369703:p.Glu432Gly		3099139	NM_001069	Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086275	0.36855	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.74209	-0.82	4.96	4.96	0.65561	.	0.000000	0.49305	U	0.000146	T	0.65954	0.2741	L	0.56124	1.755	0.58432	D	0.999999	P;P;P	0.47762	0.495;0.495;0.9	B;B;P	0.44772	0.178;0.178;0.46	T	0.73538	-0.3951	10	0.87932	D	0	.	14.9189	0.70818	0.0:0.0:0.0:1.0	.	432;432;432	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	G	432;342	ENSP00000369703:E432G	ENSP00000369703:E432G	E	-	2	0	TUBB2A	3099139	1.000000	0.71417	0.712000	0.30502	0.883000	0.51084	7.880000	0.87243	1.996000	0.58369	0.454000	0.30748	GAA		0.567	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069	
HIST1H2BB	3018	broad.mit.edu	37	6	26043588	26043588	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:26043588G>A	ENST00000357905.2	-	1	297	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	100					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R100C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCAGCAGGCGCACAGCCGTC	0.562																																					p.R100C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C298T	6						.						55.0	55.0	55.0					6																	26043588		2203	4300	6503	26151567	SO:0001583	missense	3018	exon1			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.298C>T	6.37:g.26043588G>A	ENSP00000350580:p.Arg100Cys		26151567	NM_021062	Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	g	12.49	1.954225	0.34471	.	.	ENSG00000196226	ENST00000357905	T	0.52754	0.65	5.08	4.19	0.49359	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	T	0.27697	0.0681	L	0.49571	1.57	0.52501	D	0.999955	B	0.09022	0.002	B	0.04013	0.001	T	0.14392	-1.0474	10	0.46703	T	0.11	.	14.0611	0.64800	0.0:0.0:0.8479:0.1521	.	100	P33778	H2B1B_HUMAN	C	100	ENSP00000350580:R100C	ENSP00000350580:R100C	R	-	1	0	HIST1H2BB	26151567	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.743000	0.62110	1.206000	0.43276	0.467000	0.42956	CGC		0.562	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062	
HFE	3077	broad.mit.edu	37	6	26091204	26091204	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:26091204G>A	ENST00000357618.5	+	2	334	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	HFE_ENST00000353147.5_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.R71Q|HFE_ENST00000397022.3_Missense_Mutation_p.R48Q|HFE_ENST00000309234.6_Missense_Mutation_p.R71Q|HFE_ENST00000488199.1_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.R71Q|HFE_ENST00000470149.1_Missense_Mutation_p.R71Q|HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R71Q	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R71Q(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGAGCCCCGAACTCCATGG	0.507									Hemochromatosis																												p.R71Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G212A	6						.						103.0	100.0	101.0					6																	26091204		2203	4300	6503	26199183	SO:0001583	missense	3077	exon2	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.212G>A	6.37:g.26091204G>A	ENSP00000417404:p.Arg71Gln		26199183	NM_139004	B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978645	0.74360	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	D;T;D;D;T;D;D	0.90324	-2.65;5.61;-2.65;-2.65;5.61;-2.65;-2.65	5.3	2.57	0.30868	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.427116	0.19838	N	0.104922	D	0.89230	0.6656	M	0.86097	2.795	0.09310	N	1	D;P;P;D;D;D	0.67145	0.996;0.795;0.795;0.995;0.985;0.996	P;B;B;P;B;P	0.52823	0.71;0.117;0.117;0.587;0.319;0.71	T	0.83330	-0.0013	10	0.87932	D	0	.	7.258	0.26187	0.271:0.0:0.729:0.0	.	71;71;71;71;48;71	Q6B0J5;Q30201-7;Q30201-10;Q30201-3;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	Q	48;71;71;71;71;71;71;71	ENSP00000380217:R48Q;ENSP00000313776:R71Q;ENSP00000417404:R71Q;ENSP00000419725:R71Q;ENSP00000337819:R71Q;ENSP00000420802:R71Q;ENSP00000311698:R71Q	ENSP00000311698:R71Q	R	+	2	0	HFE	26199183	0.072000	0.21174	0.001000	0.08648	0.297000	0.27493	2.992000	0.49417	0.383000	0.24910	0.655000	0.94253	CGA		0.507	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1		
BTN3A2	11118	broad.mit.edu	37	6	26370789	26370789	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:26370789T>C	ENST00000356386.2	+	5	861	c.673T>C	c.(673-675)Tcc>Ccc	p.S225P	BTN3A2_ENST00000396948.1_Missense_Mutation_p.S225P|BTN3A2_ENST00000527422.1_Missense_Mutation_p.S225P|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.S225P|BTN3A2_ENST00000396934.3_Missense_Mutation_p.S202P|BTN3A2_ENST00000508906.2_Missense_Mutation_p.S183P	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	225					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S225P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CATCAGAAATTCCCTCCTCGG	0.542																																					p.S183P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T547C	6						.						121.0	118.0	119.0					6																	26370789		2203	4300	6503	26478768	SO:0001583	missense	11118	exon4			U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.673T>C	6.37:g.26370789T>C	ENSP00000348751:p.Ser225Pro		26478768	NM_001197249	B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	t	0.777	-0.763812	0.02996	.	.	ENSG00000186470	ENST00000532865;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T;T	0.75477	-0.94;3.32;3.32;3.32;3.32;3.32;3.32	2.31	-1.44	0.08856	Immunoglobulin-like fold (1);	.	.	.	.	T	0.21145	0.0509	N	0.03209	-0.39	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.003	T	0.15206	-1.0445	9	0.30854	T	0.27	.	2.1537	0.03807	0.2439:0.3601:0.0:0.396	.	202;225	F8W6E0;P78410	.;BT3A2_HUMAN	P	183;225;225;225;202;225;225;183	ENSP00000435952:S183P;ENSP00000432138:S225P;ENSP00000348751:S225P;ENSP00000380140:S202P;ENSP00000366937:S225P;ENSP00000380152:S225P;ENSP00000442687:S183P	ENSP00000348751:S225P	S	+	1	0	BTN3A2	26478768	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.978000	0.01494	-0.391000	0.07763	0.333000	0.21579	TCC		0.542	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2		
ZSCAN16	80345	broad.mit.edu	37	6	28093467	28093467	+	Silent	SNP	C	C	T	rs557759664		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:28093467C>T	ENST00000340487.4	+	2	395	c.246C>T	c.(244-246)gaC>gaT	p.D82D	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D82D(1)		large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGATTTTAGACCTGCTGGTGC	0.562																																					p.D82D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C246T	6						.						115.0	104.0	107.0					6																	28093467		2203	4300	6503	28201446	SO:0001819	synonymous_variant	80345	exon2			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.246C>T	6.37:g.28093467C>T			28201446	NM_025231	Q9H6K2	Silent	SNP	ENST00000340487.4	37	CCDS4644.1																																																																																				0.562	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231	
ZKSCAN4	387032	broad.mit.edu	37	6	28213576	28213576	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:28213576C>T	ENST00000377294.2	-	5	1199	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.R164Q	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	319					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R319Q(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GCAATAATGTCGCCTACTCCC	0.463																																					p.R319Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G956A	6						.						120.0	102.0	108.0					6																	28213576		2203	4300	6503	28321555	SO:0001583	missense	387032	exon5			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.956G>A	6.37:g.28213576C>T	ENSP00000366509:p.Arg319Gln		28321555	NM_019110	B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	C	1.930	-0.446281	0.04604	.	.	ENSG00000187626	ENST00000377294;ENST00000423974;ENST00000449813;ENST00000356796	T;T	0.07444	3.19;3.19	5.1	1.65	0.23941	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01061	0.0035	L	0.28649	0.875	0.09310	N	1	P	0.36438	0.553	B	0.20955	0.032	T	0.43829	-0.9367	9	0.11794	T	0.64	.	3.0723	0.06235	0.1947:0.3433:0.0:0.462	.	319	Q969J2	ZKSC4_HUMAN	Q	319;164;25;195	ENSP00000366509:R319Q;ENSP00000401978:R164Q	ENSP00000349249:R195Q	R	-	2	0	ZKSCAN4	28321555	0.000000	0.05858	0.049000	0.19019	0.006000	0.05464	-0.770000	0.04705	0.587000	0.29643	0.655000	0.94253	CGA		0.463	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110	
GPX6	257202	broad.mit.edu	37	6	28472181	28472181	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:28472181T>G	ENST00000474923.1	-	4	497	c.454A>C	c.(454-456)Aat>Cat	p.N152H	GPX6_ENST00000361902.1_Missense_Mutation_p.K185T|GPX6_ENST00000483058.1_5'Flank			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.K185T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CACCAGAAATTTCTCAAAGTT	0.532																																					p.K185T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A554C	6						.						76.0	75.0	75.0					6																	28472181		1923	4154	6077	28580160	SO:0001583	missense	257202	exon5				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.454A>C	6.37:g.28472181T>G	ENSP00000417364:p.Asn152His		28580160	NM_182701	Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.81|18.81	3.702095|3.702095	0.68501|0.68501	.|.	.|.	ENSG00000198704|ENSG00000198704	ENST00000361902|ENST00000474923	T|T	0.04049|0.12672	3.72|2.66	4.31|4.31	4.31|4.31	0.51392|0.51392	Thioredoxin-like fold (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34716|0.34716	0.0907|0.0907	H|H	0.98487|0.98487	4.245|4.245	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.59268|0.59268	-0.7486|-0.7486	10|7	0.87932|0.11794	D|T	0|0.64	.|.	12.0768|12.0768	0.53649|0.53649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	185|.	P59796|.	GPX6_HUMAN|.	T|H	185|152	ENSP00000354581:K185T|ENSP00000417364:N152H	ENSP00000354581:K185T|ENSP00000417364:N152H	K|N	-|-	2|1	0|0	GPX6|GPX6	28580160|28580160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.554000|0.554000	0.35429|0.35429	6.635000|6.635000	0.74295|0.74295	2.148000|2.148000	0.66965|0.66965	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.532	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5		
OR12D2	26529	broad.mit.edu	37	6	29365148	29365148	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:29365148C>A	ENST00000383555.2	+	1	733	c.672C>A	c.(670-672)ttC>ttA	p.F224L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F224L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTTATCTCTTCTTCAAGACCC	0.443																																					p.F224L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C672A	6						.						193.0	193.0	193.0					6																	29365148		1511	2709	4220	29473127	SO:0001583	missense	26529	exon1				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.672C>A	6.37:g.29365148C>A	ENSP00000373047:p.Phe224Leu		29473127	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.010583	0.00422	.	.	ENSG00000168787	ENST00000383555	T	0.33438	1.41	3.94	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.423728	0.22573	N	0.058318	T	0.03178	0.0093	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41928	-0.9481	10	0.12103	T	0.63	.	4.5799	0.12253	0.0:0.6109:0.1943:0.1948	.	224	P58182	O12D2_HUMAN	L	224	ENSP00000373047:F224L	ENSP00000373047:F224L	F	+	3	2	OR12D2	29473127	0.732000	0.28121	0.008000	0.14137	0.033000	0.12548	2.857000	0.48349	2.019000	0.59389	0.205000	0.17691	TTC		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2		
ZFP57	346171	broad.mit.edu	37	6	29643209	29643209	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:29643209T>G	ENST00000488757.1	-	3	456	c.306A>C	c.(304-306)gaA>gaC	p.E102D	ZFP57_ENST00000376883.1_Missense_Mutation_p.E82D|ZFP57_ENST00000376881.3_Missense_Mutation_p.E82D	NM_001109809.2	NP_001103279.2	Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	69					DNA methylation involved in embryo development (GO:0043045)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system development (GO:0007422)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	nuclear heterochromatin (GO:0005720)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E82D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CTCTCCACTGTTCCTCTTCTT	0.493																																					p.E102D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A306C	6						.						275.0	256.0	262.0					6																	29643209		1944	4150	6094	29751188	SO:0001583	missense	346171	exon3			AL050328	CCDS43436.1, CCDS43436.2	6p22.1	2013-01-08	2012-11-27	2005-07-20	ENSG00000204644	ENSG00000204644		"""Zinc fingers, C2H2-type"", ""-"""	18791	protein-coding gene	gene with protein product		612192	"""chromosome 6 open reading frame 40"", ""zinc finger protein 57 homolog (mouse)"""	C6orf40			Standard	NM_001109809		Approved	ZNF698, bA145L22, bA145L22.2	uc011dlw.2	Q9NU63	OTTHUMG00000031158	ENST00000488757.1:c.306A>C	6.37:g.29643209T>G	ENSP00000418259:p.Glu102Asp		29751188	NM_001109809	B0S894|B0V254|B2RXJ7|Q5SSB1	Missense_Mutation	SNP	ENST00000488757.1	37	CCDS43436.2	.	.	.	.	.	.	.	.	.	.	T	5.971	0.363128	0.11296	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.07114	3.22;3.47;3.47	3.7	-3.24	0.05094	.	2.317820	0.02029	N	0.048387	T	0.01092	0.0036	N	0.08118	0	0.09310	N	1	B;B	0.22146	0.065;0.039	B;B	0.18871	0.023;0.015	T	0.44081	-0.9351	10	0.26408	T	0.33	0.0133	5.1253	0.14880	0.0:0.4265:0.1803:0.3932	.	102;82	Q9NU63-3;Q9NU63-2	.;.	D	102;82;82	ENSP00000418259:E102D;ENSP00000366078:E82D;ENSP00000366080:E82D	ENSP00000366078:E82D	E	-	3	2	ZFP57	29751188	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.121000	0.01322	-0.621000	0.05633	-0.912000	0.02778	GAA		0.493	ZFP57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355773.1	XM_294093	
HLA-G	3135	broad.mit.edu	37	6	29796474	29796474	+	Silent	SNP	C	C	T	rs199952088		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:29796474C>T	ENST00000360323.6	+	3	522	c.498C>T	c.(496-498)atC>atT	p.I166I	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000428701.1_Silent_p.I166I|HLA-G_ENST00000376828.2_Silent_p.I171I			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	166	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.I166I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGGCTCAGATCTCCAAGCGCA	0.607																																					p.I166I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	6						.						99.0	83.0	89.0					6																	29796474		1511	2709	4220	29904453	SO:0001819	synonymous_variant	3135	exon4				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.498C>T	6.37:g.29796474C>T			29904453	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				0.607	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
C6orf136	221545	broad.mit.edu	37	6	30618798	30618798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:30618798G>A	ENST00000376473.5	+	3	661	c.502G>A	c.(502-504)Gac>Aac	p.D168N	C6orf136_ENST00000376471.4_Missense_Mutation_p.D34N|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000528347.2_Missense_Mutation_p.D25N|C6orf136_ENST00000293604.6_Missense_Mutation_p.D349N	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	168						mitochondrion (GO:0005739)		p.D25N(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCAGTCCCACGACTACAGTCT	0.433																																					p.D349N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045A	6						.						117.0	107.0	111.0					6																	30618798		2203	4300	6503	30726777	SO:0001583	missense	221545	exon3			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.502G>A	6.37:g.30618798G>A	ENSP00000365656:p.Asp168Asn		30726777	NM_001161376	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643220	0.87859	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	L	0.38838	1.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.976;0.986;0.944	T	0.55095	-0.8194	9	0.31617	T	0.26	-23.0502	16.6565	0.85230	0.0:0.0:1.0:0.0	.	34;349;168	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	N	349;168;34;286;25	.	ENSP00000293604:D349N	D	+	1	0	C6orf136	30726777	1.000000	0.71417	0.991000	0.47740	0.943000	0.58893	4.422000	0.59854	2.665000	0.90641	0.561000	0.74099	GAC		0.433	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	
MSH5	4439	broad.mit.edu	37	6	31728482	31728482	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:31728482T>G	ENST00000375755.3	+	20	2114	c.1828T>G	c.(1828-1830)Ttc>Gtc	p.F610V	MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.F627V|MSH5_ENST00000375703.3_Missense_Mutation_p.F610V|MSH5_ENST00000375740.3_Missense_Mutation_p.F627V|SAPCD1_ENST00000415669.2_5'Flank|MSH5_ENST00000431848.2_Missense_Mutation_p.F309V|MSH5_ENST00000395853.1_Missense_Mutation_p.F284V|MSH5_ENST00000375742.3_Missense_Mutation_p.F627V|MSH5_ENST00000534153.4_Missense_Mutation_p.F627V|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.F610V	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	610					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.F627V(1)|p.F610V(1)		breast(1)|ovary(2)|skin(2)	5						CTTGATCACATTCATGGCCCT	0.552								Direct reversal of damage;Mismatch excision repair (MMR)																													p.F627V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1879G	6						.						130.0	123.0	125.0					6																	31728482		1511	2709	4220	31836461	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.1828T>G	6.37:g.31728482T>G	ENSP00000364908:p.Phe610Val		31836461	NM_025259	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.824128	0.90873	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000383401;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.93	5.93	0.95920	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	N	0.17723	0.515	0.47659	D	0.999485	D;D;D;P;D	0.89917	1.0;1.0;0.988;0.562;1.0	D;D;D;B;D	0.79784	0.993;0.992;0.914;0.444;0.988	D	0.83933	0.0307	9	0.46703	T	0.11	-13.3522	14.3464	0.66668	0.0:0.0:0.0:1.0	.	295;627;610;610;627	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	V	610;627;142;610;627;610;627;309;284	ENSP00000364908:F610V;ENSP00000364894:F627V;ENSP00000364903:F610V;ENSP00000431693:F627V;ENSP00000364855:F610V;ENSP00000364892:F627V;ENSP00000416784:F309V;ENSP00000379194:F284V	ENSP00000364855:F610V	F	+	1	0	MSH5	31836461	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.470000	0.66756	2.281000	0.76405	0.533000	0.62120	TTC		0.552	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4		
NEU1	4758	broad.mit.edu	37	6	31829123	31829123	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:31829123G>T	ENST00000375631.4	-	3	586	c.457C>A	c.(457-459)Ctt>Att	p.L153I		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	153					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GAGTAGAAAAGAAATACTACT	0.532																																					p.L153I												.	.	0			c.C457A	6						.						80.0	77.0	78.0					6																	31829123		1511	2709	4220	31937102	SO:0001583	missense	4758	exon3			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.457C>A	6.37:g.31829123G>T	ENSP00000364782:p.Leu153Ile		31937102	NM_000434		Missense_Mutation	SNP	ENST00000375631.4	37	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023320	0.54683	.	.	ENSG00000204386	ENST00000375631	D	0.94613	-3.47	5.7	5.7	0.88788	Neuraminidase (2);	0.216973	0.39687	N	0.001300	D	0.89322	0.6682	L	0.35644	1.08	0.36378	D	0.86171	P;P	0.38863	0.581;0.65	P;B	0.45610	0.487;0.34	D	0.87087	0.2170	10	0.21014	T	0.42	-0.5543	12.3032	0.54887	0.0:0.0:0.8309:0.1691	.	153;153	E9PIF4;Q99519	.;NEUR1_HUMAN	I	153	ENSP00000364782:L153I	ENSP00000364782:L153I	L	-	1	0	NEU1	31937102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.503000	0.45407	2.692000	0.91855	0.655000	0.94253	CTT		0.532	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2		
NELFE	7936	broad.mit.edu	37	6	31922848	31922848	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:31922848G>T	ENST00000375429.3	-	6	618	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	NELFE_ENST00000375425.5_Missense_Mutation_p.S138Y|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Missense_Mutation_p.S131Y	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	131					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S131Y(1)									CTCATACAGAGATTTCCTCTG	0.458																																					p.S131Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C392A	6						.						90.0	95.0	93.0					6																	31922848		1511	2709	4220	32030827	SO:0001583	missense	7936	exon6			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.392C>A	6.37:g.31922848G>T	ENSP00000364578:p.Ser131Tyr		32030827	NM_002904	A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	ENST00000375429.3	37	CCDS4730.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312594	0.81358	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289;ENST00000426722	T;T;T;T;T;T	0.45668	1.48;1.48;1.47;0.89;1.48;0.89	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.998;0.995	D;D;D;D	0.83275	0.986;0.996;0.994;0.986	T	0.52540	-0.8562	10	0.87932	D	0	-6.126	18.8028	0.92025	0.0:0.0:1.0:0.0	.	131;131;131;131	B4DUN1;A2ABK1;E9PCL7;P18615	.;.;.;NELFE_HUMAN	Y	131;138;131;131;131;131;131	ENSP00000364578:S131Y;ENSP00000364574:S138Y;ENSP00000388400:S131Y;ENSP00000397914:S131Y;ENSP00000409389:S131Y;ENSP00000414029:S131Y	ENSP00000364574:S138Y	S	-	2	0	RDBP	32030827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.238000	0.72350	2.746000	0.94184	0.655000	0.94253	TCT		0.458	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4		
TNXB	7148	broad.mit.edu	37	6	32046999	32046999	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:32046999G>C	ENST00000375244.3	-	11	4387	c.4186C>G	c.(4186-4188)Cag>Gag	p.Q1396E	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Missense_Mutation_p.Q1396E			P22105	TENX_HUMAN	tenascin XB	1483	Fibronectin type-III 6. {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.Q1483E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAGCTGCCCTGGGGGACGGTC	0.682																																					p.Q1396E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4186G	6						.						117.0	130.0	126.0					6																	32046999		1260	2540	3800	32154977	SO:0001583	missense	7148	exon11			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.4186C>G	6.37:g.32046999G>C	ENSP00000364393:p.Gln1396Glu		32154977	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	6.210	0.406901	0.11754	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56444	0.46;0.46	5.52	3.59	0.41128	.	0.411501	0.17832	N	0.160505	T	0.09335	0.0230	N	0.10685	0.025	0.19575	N	0.999968	B	0.02656	0.0	B	0.10450	0.005	T	0.32455	-0.9906	10	0.02654	T	1	.	8.8844	0.35394	0.0:0.3045:0.5384:0.1571	.	1396	P22105-3	.	E	1396	ENSP00000364393:Q1396E;ENSP00000364396:Q1396E	ENSP00000364393:Q1396E	Q	-	1	0	TNXB	32154977	0.591000	0.26824	1.000000	0.80357	0.526000	0.34562	0.547000	0.23299	1.452000	0.47756	0.591000	0.81541	CAG		0.682	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	32065856	32065856	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:32065856A>G	ENST00000479795.1	-	2	260	c.120T>C	c.(118-120)ccT>ccC	p.P40P	TNXB_ENST00000375244.3_Silent_p.P40P|TNXB_ENST00000375247.2_Silent_p.P40P			P22105	TENX_HUMAN	tenascin XB	40					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.P40P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGCTGGGGAGGGGGCCGGG	0.632																																					p.P40P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T120C	6						.																																			32173834	SO:0001819	synonymous_variant	7148	exon2			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	ENST00000479795.1:c.120T>C	6.37:g.32065856A>G			32173834	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000479795.1	37																																																																																					0.632	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105	
HLA-DQA2	3118	broad.mit.edu	37	6	32713006	32713006	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:32713006A>C	ENST00000374940.3	+	2	255	c.153A>C	c.(151-153)gaA>gaC	p.E51D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	51	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	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)	p.E51D(1)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	ACACCCATGAATTTGATGGAG	0.498																																					p.E51D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A153C	6						.						196.0	191.0	193.0					6																	32713006		1511	2709	4220	32820984	SO:0001583	missense	3118	exon2				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.153A>C	6.37:g.32713006A>C	ENSP00000364076:p.Glu51Asp		32820984	NM_020056	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	11.19	1.566193	0.27915	.	.	ENSG00000237541	ENST00000374940	T	0.00840	5.63	3.2	0.808	0.18719	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);	0.134780	0.49305	U	0.000143	T	0.00906	0.0030	M	0.65320	2	0.25005	N	0.991444	D	0.55800	0.973	P	0.62740	0.906	T	0.53429	-0.8440	10	0.25106	T	0.35	.	4.4486	0.11609	0.69:0.0:0.31:0.0	.	51	P01906	DQA2_HUMAN	D	51	ENSP00000364076:E51D	ENSP00000364076:E51D	E	+	3	2	HLA-DQA2	32820984	0.977000	0.34250	0.993000	0.49108	0.064000	0.16182	-0.066000	0.11598	0.425000	0.26087	0.321000	0.21382	GAA		0.498	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
PSMB8	5696	broad.mit.edu	37	6	32808741	32808741	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:32808741G>T	ENST00000374882.3	-	6	876	c.826C>A	c.(826-828)Caa>Aaa	p.Q276K	TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374899.4_5'Flank|TAP2_ENST00000374897.2_5'Flank|PSMB8_ENST00000374881.2_Missense_Mutation_p.Q272K|PSMB8_ENST00000395339.3_Missense_Mutation_p.Q252K	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	276					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|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)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	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.Q276K(1)|p.Q272K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	CACCATTATTGATTGGCTTCC	0.522																																					p.Q272K	NSCLC(48;53 1172 10859 13624 22883)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C814A	6						.						139.0	115.0	123.0					6																	32808741		2203	4300	6503	32916719	SO:0001583	missense	5696	exon6				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.826C>A	6.37:g.32808741G>T	ENSP00000364016:p.Gln276Lys		32916719	NM_004159	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	G	7.116	0.576962	0.13686	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.37058	1.22;1.8;1.79	4.77	1.68	0.24146	.	0.789526	0.12303	N	0.480944	T	0.04137	0.0115	N	0.03253	-0.375	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.14023	0.01;0.002	T	0.46331	-0.9199	10	0.10111	T	0.7	.	7.2973	0.26401	0.0:0.3841:0.4405:0.1754	.	272;276	P28062-2;P28062	.;PSB8_HUMAN	K	252;276;272	ENSP00000378748:Q252K;ENSP00000364016:Q276K;ENSP00000364015:Q272K	ENSP00000364015:Q272K	Q	-	1	0	PSMB8	32916719	0.003000	0.15002	0.005000	0.12908	0.021000	0.10359	0.722000	0.25925	0.550000	0.28991	0.643000	0.83706	CAA		0.522	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919	
HLA-DMB	3109	broad.mit.edu	37	6	32906579	32906579	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:32906579C>T	ENST00000418107.2	-	2	481	c.219G>A	c.(217-219)gcG>gcA	p.A73A	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.A105A|HLA-DMB_ENST00000416244.2_Silent_p.A73A|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.A73A(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGAGGACATTCGCCAAGCTAT	0.527																																					p.A73A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G219A	6						.						124.0	124.0	124.0					6																	32906579		1511	2709	4220	33014557	SO:0001819	synonymous_variant	3109	exon2				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.219G>A	6.37:g.32906579C>T			33014557	NM_002118	O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Silent	SNP	ENST00000418107.2	37	CCDS4760.1																																																																																				0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118	
HLA-DPB1	3115	broad.mit.edu	37	6	33048480	33048480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33048480C>A	ENST00000418931.2	+	2	248	c.132C>A	c.(130-132)tgC>tgA	p.C44*	HLA-DPA1_ENST00000419277.1_5'UTR|HLA-DPB1_ENST00000535465.1_Nonsense_Mutation_p.C44*|HLA-DPB1_ENST00000471184.1_3'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	44	Beta-1.		C -> G (in allele DPB1*26:02).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|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)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)	p.C44*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GGCAGGAATGCTACGCGTTTA	0.592																																					p.C44X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C132A	6						.						59.0	61.0	60.0					6																	33048480		1511	2709	4220	33156458	SO:0001587	stop_gained	3115	exon2				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.132C>A	6.37:g.33048480C>A	ENSP00000408146:p.Cys44*		33156458	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Nonsense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.246643|5.246643	0.95305|0.95305	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	.|.	.|.	.|.	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	.|0.054564	.|0.85682	.|D	.|0.000000	T|.	0.06508|.	0.0167|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21415|.	-1.0246|.	3|.	.|0.02654	.|T	.|1	.|.	7.625|7.625	0.28208|0.28208	0.0:0.8834:0.0:0.1166|0.0:0.8834:0.0:0.1166	.|.	.|.	.|.	.|.	D|X	11|44;44;44;21	.|.	.|ENSP00000389210:C44X	A|C	+|+	2|3	0|2	HLA-DPB1|HLA-DPB1	33156458|33156458	0.629000|0.629000	0.27146|0.27146	0.804000|0.804000	0.32291|0.32291	0.209000|0.209000	0.24338|0.24338	0.404000|0.404000	0.20999|0.20999	2.200000|2.200000	0.70718|0.70718	0.579000|0.579000	0.79373|0.79373	GCT|TGC		0.592	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121	
COL11A2	1302	broad.mit.edu	37	6	33143404	33143404	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33143404C>T	ENST00000374708.4	-	28	2323	c.2065G>A	c.(2065-2067)Gga>Aga	p.G689R	COL11A2_ENST00000357486.1_Missense_Mutation_p.G754R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G668R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G694R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G728R|COL11A2_ENST00000341947.2_Missense_Mutation_p.G775R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G715R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G749R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	775	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.G775R(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						CCAGTGCGTCCCTTTGGCCCC	0.652																																					p.G689R	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2065A	6						.						109.0	94.0	100.0					6																	33143404		1509	2709	4218	33251382	SO:0001583	missense	1302	exon28			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.2065G>A	6.37:g.33143404C>T	ENSP00000363840:p.Gly689Arg		33251382	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696668	0.88830	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	4.3	4.3	0.51218	.	0.065961	0.64402	D	0.000014	D	0.99822	0.9921	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;0.985;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.96723	0.9534	10	0.87932	D	0	.	14.6683	0.68924	0.0:1.0:0.0:0.0	.	668;689;775	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	R	689;775;754;749;728;715;694;668	ENSP00000363840:G689R;ENSP00000339915:G775R;ENSP00000350079:G754R;ENSP00000363846:G749R;ENSP00000363845:G728R;ENSP00000378623:G715R;ENSP00000363844:G694R;ENSP00000355123:G668R	ENSP00000339915:G775R	G	-	1	0	COL11A2	33251382	0.999000	0.42202	1.000000	0.80357	0.978000	0.69477	5.454000	0.66651	2.421000	0.82119	0.478000	0.44815	GGA		0.652	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
RXRB	6257	broad.mit.edu	37	6	33165653	33165653	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33165653C>A	ENST00000374680.3	-	4	917	c.706G>T	c.(706-708)Gac>Tac	p.D236Y	SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Missense_Mutation_p.D46Y|SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000413614.2_Missense_Mutation_p.D140Y|RXRB_ENST00000374685.4_Missense_Mutation_p.D236Y	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	236					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D236Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TATGTAAGGTCTTTGCGGATG	0.547																																					p.D236Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706T	6						.						86.0	70.0	76.0					6																	33165653		1511	2709	4220	33273631	SO:0001583	missense	6257	exon4			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.706G>T	6.37:g.33165653C>A	ENSP00000363812:p.Asp236Tyr		33273631	NM_021976	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148776	0.78001	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	4.3	4.3	0.51218	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.103245	0.64402	D	0.000004	D	0.96864	0.8976	L	0.53561	1.675	0.80722	D	1	D;D;P;B;D;D;D;D	0.89917	1.0;1.0;0.887;0.414;0.96;1.0;1.0;1.0	D;D;P;B;P;D;D;D	0.91635	0.999;0.999;0.733;0.365;0.887;0.999;0.999;0.999	D	0.97171	0.9844	10	0.62326	D	0.03	.	14.662	0.68879	0.0:1.0:0.0:0.0	.	140;236;119;46;236;236;276;236	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	Y	236;236;46;140	ENSP00000363817:D236Y;ENSP00000363812:D236Y;ENSP00000439222:D46Y;ENSP00000415561:D140Y	ENSP00000363812:D236Y	D	-	1	0	RXRB	33273631	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.785000	0.62418	2.393000	0.81446	0.448000	0.29417	GAC		0.547	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
RPS18	6222	broad.mit.edu	37	6	33244217	33244217	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33244217A>G	ENST00000439602.2	+	6	543	c.433A>G	c.(433-435)Acc>Gcc	p.T145A	RPS18_ENST00000476222.1_3'UTR|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000474973.1_Missense_Mutation_p.T75A			P62269	RS18_HUMAN	ribosomal protein S18	145					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)|ribosome biogenesis (GO:0042254)|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)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.T145A(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CCGTGGCCGCACCGTGGGTGT	0.488																																					p.T145A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A433G	6						.						46.0	46.0	46.0					6																	33244217		2203	4294	6497	33352195	SO:0001583	missense	6222	exon6			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.433A>G	6.37:g.33244217A>G	ENSP00000393241:p.Thr145Ala		33352195	NM_022551	P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583338	0.65992	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.48	4.48	0.54585	Ribosomal protein S13-like, H2TH (1);	0.126503	0.53938	D	0.000056	T	0.47728	0.1461	M	0.72894	2.215	0.54753	D	0.999989	B	0.15141	0.012	B	0.24006	0.05	T	0.57791	-0.7750	9	0.59425	D	0.04	.	10.1487	0.42780	1.0:0.0:0.0:0.0	.	145	P62269	RS18_HUMAN	A	145;75	.	ENSP00000393241:T145A	T	+	1	0	RPS18	33352195	1.000000	0.71417	0.871000	0.34182	0.991000	0.79684	7.771000	0.85420	1.904000	0.55121	0.386000	0.25728	ACC		0.488	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2		
RGL2	5863	broad.mit.edu	37	6	33259939	33259939	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33259939T>C	ENST00000497454.1	-	18	2769	c.2274A>G	c.(2272-2274)ggA>ggG	p.G758G	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|WDR46_ENST00000477718.1_5'Flank|WDR46_ENST00000374617.4_5'Flank	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	758					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGAGCCCCCTCCTCCCTCAC	0.602																																					p.G758G												.	.	0			c.A2274G	6						.						65.0	61.0	63.0					6																	33259939		2203	4300	6503	33367917	SO:0001819	synonymous_variant	5863	exon18				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.2274A>G	6.37:g.33259939T>C			33367917	NM_004761	B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	T	9.292	1.050780	0.19827	.	.	ENSG00000237441	ENST00000421215	.	.	.	5.64	3.04	0.35103	.	.	.	.	.	T	0.40767	0.1130	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	5	0.35671	T	0.21	.	5.7771	0.18285	0.1687:0.0:0.1761:0.6551	.	.	.	.	G	621	.	ENSP00000400083:E621G	E	-	2	0	RGL2	33367917	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.291000	0.18994	0.920000	0.36970	0.523000	0.50628	GAG		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2		
TAPBP	6892	broad.mit.edu	37	6	33272205	33272205	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33272205A>G	ENST00000489157.1	-	4	1030	c.818T>C	c.(817-819)gTc>gCc	p.V273A	TAPBP_ENST00000475304.1_Missense_Mutation_p.V378A|TAPBP_ENST00000434618.2_Missense_Mutation_p.V360A|TAPBP_ENST00000456592.2_Missense_Mutation_p.V360A|TAPBP_ENST00000426633.2_Missense_Mutation_p.V360A			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	360					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	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 membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)	p.V360A(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGAGAGGCTGACAGAGCCATC	0.682																																					p.V360A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1079C	6						.						31.0	33.0	32.0					6																	33272205		2202	4297	6499	33380183	SO:0001583	missense	6892	exon5			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.818T>C	6.37:g.33272205A>G	ENSP00000419659:p.Val273Ala		33380183	NM_172208	A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300539	0.81136	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.376195	0.26514	N	0.023953	T	0.04998	0.0134	M	0.63428	1.95	0.32373	N	0.55557	P;P;P;P;P	0.50819	0.939;0.936;0.822;0.846;0.915	P;P;B;P;P	0.57204	0.558;0.815;0.325;0.477;0.686	T	0.03706	-1.1011	10	0.72032	D	0.01	-16.4586	12.0049	0.53252	1.0:0.0:0.0:0.0	.	360;273;378;360;360	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	A	360;378;273;360;360;360	ENSP00000395701:V360A;ENSP00000417949:V378A;ENSP00000419659:V273A;ENSP00000404833:V360A;ENSP00000387803:V360A	ENSP00000404833:V360A	V	-	2	0	TAPBP	33380183	0.575000	0.26692	0.997000	0.53966	0.810000	0.45777	2.108000	0.41854	2.100000	0.63781	0.408000	0.27601	GTC		0.682	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2		
KIFC1	3833	broad.mit.edu	37	6	33374422	33374422	+	Silent	SNP	T	T	C	rs371316441		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:33374422T>C	ENST00000428849.2	+	9	2331	c.1881T>C	c.(1879-1881)tcT>tcC	p.S627S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	627	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)	p.S627S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGCAGAACTCTCTGGGTGGTA	0.527																																					p.S627S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1881C	6						.	T		2,4404	4.2+/-10.8	0,2,2201	141.0	131.0	135.0		1881	0.1	1.0	6		135	0,8600		0,0,4300	no	coding-synonymous	KIFC1	NM_002263.3		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		627/674	33374422	2,13004	2203	4300	6503	33482400	SO:0001819	synonymous_variant	3833	exon9			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1881T>C	6.37:g.33374422T>C			33482400	NM_002263	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	ENST00000428849.2	37	CCDS34430.1																																																																																				0.527	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263	
PPARD	5467	broad.mit.edu	37	6	35393738	35393738	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:35393738T>C	ENST00000311565.4	+	9	1557	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	PPARD_ENST00000360694.3_Missense_Mutation_p.M403T|PPARD_ENST00000540939.1_Missense_Mutation_p.M300T|PPARD_ENST00000448077.2_Missense_Mutation_p.M364T|PPARD_ENST00000418635.2_Missense_Mutation_p.M305T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	403	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.M403T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGCAGAAGATGGCTGACCTG	0.607																																					p.M403T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1208C	6						.						103.0	91.0	95.0					6																	35393738		2203	4300	6503	35501716	SO:0001583	missense	5467	exon9			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1208T>C	6.37:g.35393738T>C	ENSP00000310928:p.Met403Thr		35501716	NM_001171818	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516319	0.85495	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.05	5.05	0.67936	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.080011	0.85682	D	0.000000	T	0.76543	0.4002	M	0.80616	2.505	0.80722	D	1	P;D;D	0.61080	0.907;0.989;0.989	P;P;P	0.55577	0.628;0.718;0.779	T	0.81714	-0.0807	10	0.87932	D	0	.	14.8191	0.70059	0.0:0.0:0.0:1.0	.	305;364;403	E9PE18;B7Z3W1;Q03181	.;.;PPARD_HUMAN	T	364;403;305;403;300	ENSP00000414372:M364T;ENSP00000353916:M403T;ENSP00000413314:M305T;ENSP00000310928:M403T;ENSP00000443759:M300T	ENSP00000310928:M403T	M	+	2	0	PPARD	35501716	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.004000	0.88535	1.898000	0.54952	0.459000	0.35465	ATG		0.607	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	
PI16	221476	broad.mit.edu	37	6	36929308	36929308	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:36929308G>A	ENST00000373674.3	+	3	803	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	159	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.E159K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCAACATCGAATTACTGGT	0.582																																					p.E159K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G475A	6						.						142.0	127.0	132.0					6																	36929308		2203	4300	6503	37037286	SO:0001583	missense	221476	exon3				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.475G>A	6.37:g.36929308G>A	ENSP00000362778:p.Glu159Lys		37037286	NM_153370	Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063577	0.36373	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.07908	3.15	5.08	2.3	0.28687	CAP domain (3);	0.788386	0.11936	N	0.515210	T	0.00967	0.0032	N	0.03177	-0.4	0.09310	N	1	B;B	0.30889	0.043;0.299	B;B	0.21546	0.002;0.035	T	0.47249	-0.9132	10	0.33141	T	0.24	.	6.5358	0.22352	0.0:0.5538:0.2881:0.1581	.	159;159	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	K	159;159;11	ENSP00000362778:E159K	ENSP00000362778:E159K	E	+	1	0	PI16	37037286	0.241000	0.23857	0.027000	0.17364	0.877000	0.50540	0.506000	0.22658	0.310000	0.22990	-0.270000	0.10280	GAA		0.582	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370	
DNAH8	1769	broad.mit.edu	37	6	38810668	38810668	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:38810668G>T	ENST00000359357.3	+	33	4437	c.4183G>T	c.(4183-4185)Gat>Tat	p.D1395Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1395Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1612Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1395					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.D1395Y(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						TAAACATAAGGATGATATTGA	0.363																																					p.D1395Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4183T	6						.						102.0	95.0	97.0					6																	38810668		2203	4300	6503	38918646	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.4183G>T	6.37:g.38810668G>T	ENSP00000352312:p.Asp1395Tyr		38918646	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	19.65	3.868069	0.72065	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.63096	-0.02;-0.02;-0.02	5.12	5.12	0.69794	Dynein heavy chain, domain-2 (1);	0.105656	0.64402	D	0.000006	T	0.74512	0.3726	M	0.83603	2.65	0.53005	D	0.999964	P	0.50443	0.935	P	0.56788	0.806	T	0.78807	-0.2059	10	0.72032	D	0.01	.	18.9269	0.92549	0.0:0.0:1.0:0.0	.	1395	Q96JB1	DYH8_HUMAN	Y	1600;1600;1395;1395	ENSP00000333363:D1600Y;ENSP00000352312:D1395Y;ENSP00000402294:D1395Y	ENSP00000333363:D1600Y	D	+	1	0	DNAH8	38918646	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.957000	0.87870	2.532000	0.85374	0.557000	0.71058	GAT		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38889244	38889244	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:38889244G>T	ENST00000359357.3	+	69	10227	c.9973G>T	c.(9973-9975)Gta>Tta	p.V3325L	DNAH8_ENST00000441566.1_Missense_Mutation_p.V3289L|DNAH8_ENST00000449981.2_Missense_Mutation_p.V3542L|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3325	Stalk. {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.V3325L(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						GCTGGATAAAGTACAGGCAAA	0.448																																					p.V3325L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9973T	6						.						73.0	69.0	71.0					6																	38889244		2203	4300	6503	38997222	SO:0001583	missense	1769	exon69			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.9973G>T	6.37:g.38889244G>T	ENSP00000352312:p.Val3325Leu		38997222	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	28.4	4.921094	0.92249	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.66099	-0.19;-0.19;-0.19	5.47	5.47	0.80525	Dynein heavy chain, coiled coil stalk (1);	0.067309	0.64402	D	0.000016	T	0.56761	0.2007	L	0.35854	1.095	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.53443	-0.8438	10	0.02654	T	1	.	19.6762	0.95934	0.0:0.0:1.0:0.0	.	3325	Q96JB1	DYH8_HUMAN	L	3530;3530;3325;3289	ENSP00000333363:V3530L;ENSP00000352312:V3325L;ENSP00000402294:V3289L	ENSP00000333363:V3530L	V	+	1	0	DNAH8	38997222	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.813000	0.99286	2.729000	0.93468	0.591000	0.81541	GTA		0.448	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38919247	38919247	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:38919247A>G	ENST00000359357.3	+	80	12005	c.11751A>G	c.(11749-11751)ggA>ggG	p.G3917G	DNAH8_ENST00000441566.1_Silent_p.G3881G|DNAH8_ENST00000449981.2_Silent_p.G4134G|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3917	AAA 6. {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.G3917G(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						TGTCCATGGGATCTGACCCCA	0.423																																					p.G3917G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A11751G	6						.						202.0	212.0	209.0					6																	38919247		2203	4300	6503	39027225	SO:0001819	synonymous_variant	1769	exon80			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.11751A>G	6.37:g.38919247A>G			39027225	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
GLP1R	2740	broad.mit.edu	37	6	39053697	39053697	+	Missense_Mutation	SNP	C	C	T	rs199796313		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:39053697C>T	ENST00000373256.4	+	13	1283	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	414					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.R414W(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)	GCTGGAATTTCGGAAGAGCTG	0.547																																					p.R414W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1240T	6						.						140.0	143.0	142.0					6																	39053697		2203	4300	6503	39161675	SO:0001583	missense	2740	exon13				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.1240C>T	6.37:g.39053697C>T	ENSP00000362353:p.Arg414Trp		39161675	NM_002062	Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102348	0.56183	.	.	ENSG00000112164	ENST00000373256	T	0.66460	-0.21	6.17	5.31	0.75309	.	0.000000	0.64402	D	0.000009	T	0.62159	0.2405	M	0.87381	2.88	0.50171	D	0.999851	B	0.16166	0.016	B	0.15870	0.014	T	0.67201	-0.5730	10	0.62326	D	0.03	.	15.8154	0.78595	0.0:0.9352:0.0:0.0648	.	414	P43220	GLP1R_HUMAN	W	414	ENSP00000362353:R414W	ENSP00000362353:R414W	R	+	1	2	GLP1R	39161675	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.456000	0.60081	1.633000	0.50488	-0.137000	0.14449	CGG		0.547	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1		
KCNK16	83795	broad.mit.edu	37	6	39284137	39284137	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:39284137G>A	ENST00000373229.5	-	5	756	c.743C>T	c.(742-744)gCg>gTg	p.A248V	KCNK16_ENST00000507712.1_Intron|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.A248V|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000425054.2_Intron|KCNK17_ENST00000453413.2_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	248					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.A248V(1)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GAGGATCAGCGCCAGCCACGC	0.642																																					p.A248V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	6						.						29.0	31.0	31.0					6																	39284137		2203	4300	6503	39392115	SO:0001583	missense	83795	exon5			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.743C>T	6.37:g.39284137G>A	ENSP00000362326:p.Ala248Val		39392115	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293479	0.80914	.	.	ENSG00000095981	ENST00000373229;ENST00000437525	T;T	0.32023	1.47;1.47	5.11	4.23	0.50019	Ion transport 2 (1);	0.954854	0.08598	N	0.921933	T	0.46946	0.1419	M	0.76574	2.34	0.37793	D	0.927439	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.949	T	0.42464	-0.9450	10	0.72032	D	0.01	.	14.8222	0.70082	0.0:0.0:0.8546:0.1454	.	248;248	B5TJL9;Q96T55	.;KCNKG_HUMAN	V	248	ENSP00000362326:A248V;ENSP00000415375:A248V	ENSP00000362326:A248V	A	-	2	0	KCNK16	39392115	0.981000	0.34729	0.858000	0.33744	0.994000	0.84299	5.454000	0.66651	1.255000	0.44051	0.462000	0.41574	GCG		0.642	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
ZNF318	24149	broad.mit.edu	37	6	43306997	43306997	+	Missense_Mutation	SNP	G	G	C	rs200567365		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:43306997G>C	ENST00000361428.2	-	10	4816	c.4739C>G	c.(4738-4740)gCc>gGc	p.A1580G	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1580			A -> T (in dbSNP:rs3734684).		meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGTCTCAGGGGCCCCCTTTCC	0.468																																					p.A1580G												.	.	0			c.C4739G	6						.						53.0	59.0	57.0					6																	43306997		2203	4300	6503	43414975	SO:0001583	missense	24149	exon10			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4739C>G	6.37:g.43306997G>C	ENSP00000354964:p.Ala1580Gly		43414975	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.619996	0.00828	.	.	ENSG00000171467	ENST00000361428	T	0.13538	2.58	5.3	1.19	0.21007	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.48479	-0.9032	9	0.16420	T	0.52	.	8.374	0.32432	0.0664:0.2011:0.6211:0.1113	.	1580	Q5VUA4	ZN318_HUMAN	G	1580	ENSP00000354964:A1580G	ENSP00000354964:A1580G	A	-	2	0	ZNF318	43414975	0.980000	0.34600	0.414000	0.26521	0.496000	0.33645	2.231000	0.43009	0.101000	0.17610	-2.498000	0.00192	GCC		0.468	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
XPO5	57510	broad.mit.edu	37	6	43516063	43516063	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:43516063C>T	ENST00000265351.7	-	18	2205	c.1995G>A	c.(1993-1995)caG>caA	p.Q665Q	XPO5_ENST00000424378.2_5'Flank	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	665					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.Q665Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGAACACCTTCTGACGCTCGT	0.493																																					p.Q665Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1995A	6						.						153.0	150.0	151.0					6																	43516063		1934	4148	6082	43624041	SO:0001819	synonymous_variant	57510	exon18			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1995G>A	6.37:g.43516063C>T			43624041	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	ENST00000265351.7	37	CCDS47430.1																																																																																				0.493	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	
CAPN11	11131	broad.mit.edu	37	6	44148342	44148342	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:44148342C>A	ENST00000398776.1	+	16	1727	c.1689C>A	c.(1687-1689)gtC>gtA	p.V563V	CAPN11_ENST00000542245.1_Silent_p.V563V	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	563	Linker.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.V563V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAAAAGGTCTCTGAGGATG	0.582																																					p.V563V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1689A	6						.						41.0	43.0	43.0					6																	44148342		1884	4113	5997	44256320	SO:0001819	synonymous_variant	11131	exon16			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1689C>A	6.37:g.44148342C>A			44256320	NM_007058	B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	CCDS47436.1																																																																																				0.582	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
CYP39A1	51302	broad.mit.edu	37	6	46620169	46620169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:46620169C>A	ENST00000275016.2	-	1	354	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	SLC25A27_ENST00000371347.5_5'Flank|SLC25A27_ENST00000452689.2_5'Flank|SLC25A27_ENST00000411689.2_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	51					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.E51*(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCTATAAATTCTAGAGGGGCT	0.448																																					p.E51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G151T	6						.						177.0	204.0	195.0					6																	46620169		2203	4300	6503	46728128	SO:0001587	stop_gained	51302	exon1			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.151G>T	6.37:g.46620169C>A	ENSP00000275016:p.Glu51*		46728128	NM_016593	Q5VTT0|Q96FW5	Nonsense_Mutation	SNP	ENST00000275016.2	37	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	38	7.230604	0.98150	.	.	ENSG00000146233	ENST00000275016	.	.	.	5.39	4.5	0.54988	.	0.151300	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-22.2833	9.473	0.38853	0.0:0.7742:0.1467:0.0792	.	.	.	.	X	51	.	ENSP00000275016:E51X	E	-	1	0	CYP39A1	46728128	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.652000	0.37313	1.372000	0.46190	0.655000	0.94253	GAA		0.448	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1		
TDRD6	221400	broad.mit.edu	37	6	46656967	46656967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:46656967C>T	ENST00000316081.6	+	1	1102	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.R368*	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	368	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.R368*(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)			TGAATATTTTCGAATGCCGGT	0.547																																					p.R368X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1102T	6						.						134.0	119.0	124.0					6																	46656967		2203	4300	6503	46764926	SO:0001587	stop_gained	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.1102C>T	6.37:g.46656967C>T	ENSP00000346065:p.Arg368*		46764926	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.516299	0.96402	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.65	5.65	0.86999	.	0.255981	0.36932	N	0.002340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8198	19.5221	0.95189	0.0:1.0:0.0:0.0	.	.	.	.	X	368	.	ENSP00000346065:R368X	R	+	1	2	TDRD6	46764926	0.995000	0.38212	0.709000	0.30452	0.825000	0.46686	3.360000	0.52299	2.941000	0.99782	0.655000	0.94253	CGA		0.547	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
GPR110	266977	broad.mit.edu	37	6	46988506	46988506	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:46988506C>A	ENST00000371253.2	-	7	787	c.572G>T	c.(571-573)aGa>aTa	p.R191I	GPR110_ENST00000283297.5_5'Flank|GPR110_ENST00000371243.2_Missense_Mutation_p.R191I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	191	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.R191I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGAATTCTTTCATATGC	0.388																																					p.R191I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572T	6						.						91.0	86.0	88.0					6																	46988506		2203	4300	6503	47096465	SO:0001583	missense	266977	exon7			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.572G>T	6.37:g.46988506C>A	ENSP00000360299:p.Arg191Ile		47096465	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085394	0.36758	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T;T	0.35236	1.32;1.32	5.12	1.22	0.21188	SEA (1);	0.681363	0.13437	N	0.388007	T	0.11410	0.0278	L	0.35487	1.065	0.09310	N	1	P;P	0.48503	0.911;0.728	P;B	0.44811	0.461;0.403	T	0.08638	-1.0712	10	0.39692	T	0.17	0.1548	4.0256	0.09685	0.1623:0.5673:0.0:0.2704	.	191;191	Q5T601-2;Q5T601	.;GP110_HUMAN	I	191	ENSP00000360299:R191I;ENSP00000360289:R191I	ENSP00000360289:R191I	R	-	2	0	GPR110	47096465	0.010000	0.17322	0.009000	0.14445	0.729000	0.41735	0.216000	0.17585	-0.079000	0.12707	-0.150000	0.13652	AGA		0.388	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	
PGK2	5232	broad.mit.edu	37	6	49753713	49753713	+	Silent	SNP	G	G	A	rs199596449		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:49753713G>A	ENST00000304801.3	-	1	1340	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	396				G -> R (in Ref. 1; CAA28872). {ECO:0000305}.	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.G396G(2)		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)					GACTGGCACCGCCTCCAGTGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19987	0.0		0.001	False		,,,				2504	0.0				p.G396G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1188T	6						.	G		0,4406		0,0,2203	104.0	101.0	102.0		1188	-8.4	0.7	6		102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PGK2	NM_138733.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		396/418	49753713	2,13004	2203	4300	6503	49861672	SO:0001819	synonymous_variant	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.1188C>T	6.37:g.49753713G>A			49861672	NM_138733	B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	CCDS4930.1																																																																																				0.483	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
PGK2	5232	broad.mit.edu	37	6	49754855	49754855	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:49754855C>A	ENST00000304801.3	-	1	198	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	16					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.G16W(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)					ACTCGCTTCCCTCTAACATCC	0.408																																					p.G16W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G46T	6						.						155.0	143.0	147.0					6																	49754855		2203	4300	6503	49862814	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.46G>T	6.37:g.49754855C>A	ENSP00000305995:p.Gly16Trp		49862814	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871374	0.72065	.	.	ENSG00000170950	ENST00000304801	D	0.93659	-3.26	4.9	4.9	0.64082	Phosphoglycerate kinase, N-terminal (1);	0.107770	0.64402	D	0.000007	D	0.98264	0.9425	H	0.99347	4.525	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99305	1.0902	10	0.87932	D	0	-3.1132	16.3743	0.83379	0.0:1.0:0.0:0.0	.	16	P07205	PGK2_HUMAN	W	16	ENSP00000305995:G16W	ENSP00000305995:G16W	G	-	1	0	PGK2	49862814	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	5.167000	0.64972	2.645000	0.89757	0.650000	0.86243	GGG		0.408	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
TFAP2D	83741	broad.mit.edu	37	6	50686805	50686805	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:50686805C>T	ENST00000008391.3	+	3	768	c.540C>T	c.(538-540)ggC>ggT	p.G180G	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.G180G(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)					TTATTAAGGGCTCTGTGGAGG	0.403																																					p.G180G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C540T	6						.						108.0	104.0	105.0					6																	50686805		2203	4300	6503	50794764	SO:0001819	synonymous_variant	83741	exon3			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.540C>T	6.37:g.50686805C>T			50794764	NM_172238		Silent	SNP	ENST00000008391.3	37	CCDS4933.1																																																																																				0.403	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	
GSTA5	221357	broad.mit.edu	37	6	52698975	52698975	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:52698975C>A	ENST00000370989.2	-	4	407	c.378G>T	c.(376-378)gaG>gaT	p.E126D	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.E126D			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	126	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.E126D(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTTTATTTTCTCTTTGACCA	0.388																																					p.E126D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G378T	6						.						270.0	261.0	264.0					6																	52698975		2203	4300	6503	52806934	SO:0001583	missense	221357	exon5			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.378G>T	6.37:g.52698975C>A	ENSP00000360028:p.Glu126Asp		52806934	NM_153699	Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	C	1.535	-0.543333	0.04053	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.02050	4.48;4.48	2.58	-5.17	0.02849	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.798663	0.11638	N	0.544103	T	0.00328	0.0010	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44667	-0.9313	10	0.16420	T	0.52	.	2.3079	0.04179	0.1408:0.2412:0.4177:0.2003	.	126	Q7RTV2	GSTA5_HUMAN	D	126	ENSP00000360028:E126D;ENSP00000284562:E126D	ENSP00000284562:E126D	E	-	3	2	GSTA5	52806934	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.385000	0.02540	-1.793000	0.01258	0.184000	0.17185	GAG		0.388	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699	
COL21A1	81578	broad.mit.edu	37	6	55923979	55923979	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:55923979A>G	ENST00000244728.5	-	29	3067	c.2670T>C	c.(2668-2670)ggT>ggC	p.G890G	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Silent_p.G890G|COL21A1_ENST00000370808.2_Silent_p.G256G|COL21A1_ENST00000370819.1_Silent_p.G887G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	890	Collagen-like 7.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G890G(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACCAGGAGGACCTTGTTCTC	0.423																																					p.G890G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2670C	6						.						74.0	79.0	78.0					6																	55923979		1859	4094	5953	56031938	SO:0001819	synonymous_variant	81578	exon29			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.2670T>C	6.37:g.55923979A>G			56031938	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.423	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56420154	56420154	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:56420154T>C	ENST00000361203.3	-	56	14499	c.14492A>G	c.(14491-14493)gAa>gGa	p.E4831G	DST_ENST00000421834.2_Missense_Mutation_p.E2745G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E4833G|DST_ENST00000244364.6_Missense_Mutation_p.E2419G|DST_ENST00000370754.5_Missense_Mutation_p.E5011G|DST_ENST00000446842.2_Missense_Mutation_p.E4507G|DST_ENST00000370788.2_Missense_Mutation_p.E2745G			Q03001	DYST_HUMAN	dystonin	4831					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.E4833G(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)			TGCTTTCTGTTCAACATCCTT	0.363																																					p.E2419G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7256G	6						.						93.0	93.0	93.0					6																	56420154		1857	4103	5960	56528113	SO:0001583	missense	667	exon41			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.14492A>G	6.37:g.56420154T>C	ENSP00000354508:p.Glu4831Gly		56528113	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	18.71	3.681540	0.68042	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000033	T	0.52158	0.1717	M	0.74881	2.28	0.27291	N	0.957838	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.995;0.989	D;D;D;P;D	0.85130	0.99;0.99;0.997;0.862;0.948	T	0.51276	-0.8726	9	0.35671	T	0.21	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	2745;4833;5011;4831;2419	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	2419;5011;4833;2745;4507;2745;4831	ENSP00000244364:E2419G;ENSP00000359790:E5011G;ENSP00000359805:E4833G;ENSP00000400883:E2745G;ENSP00000393645:E4507G;ENSP00000359824:E2745G;ENSP00000354508:E4831G	ENSP00000244364:E2419G	E	-	2	0	DST	56528113	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.013000	0.88655	2.277000	0.76020	0.528000	0.53228	GAA		0.363	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
BAI3	577	broad.mit.edu	37	6	69685155	69685155	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:69685155C>A	ENST00000370598.1	+	10	2478	c.1657C>A	c.(1657-1659)Ctt>Att	p.L553I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	553					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)			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)				CTCTCTCAGTCTTCATGGAGT	0.468																																					p.L553I												.	.	0			c.C1657A	6						.						83.0	75.0	78.0					6																	69685155		2203	4300	6503	69741876	SO:0001583	missense	577	exon10			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.1657C>A	6.37:g.69685155C>A	ENSP00000359630:p.Leu553Ile		69741876	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426863	0.62733	.	.	ENSG00000135298	ENST00000370598	T	0.20200	2.09	5.66	5.66	0.87406	GPCR, family 2, extracellular hormone receptor domain (3);	0.295653	0.32161	N	0.006488	T	0.06325	0.0163	N	0.08118	0	0.80722	D	1	B	0.27013	0.166	B	0.25291	0.059	T	0.20107	-1.0285	10	0.39692	T	0.17	.	16.5782	0.84706	0.0:0.8613:0.1387:0.0	.	553	O60242	BAI3_HUMAN	I	553	ENSP00000359630:L553I	ENSP00000359630:L553I	L	+	1	0	BAI3	69741876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.913000	0.69957	2.830000	0.97506	0.585000	0.79938	CTT		0.468	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
FAM135A	57579	broad.mit.edu	37	6	71185209	71185209	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:71185209A>G	ENST00000418814.2	+	6	868	c.254A>G	c.(253-255)gAt>gGt	p.D85G	FAM135A_ENST00000505769.1_Missense_Mutation_p.D85G|FAM135A_ENST00000505868.1_Missense_Mutation_p.D85G|FAM135A_ENST00000361499.3_Missense_Mutation_p.D85G|FAM135A_ENST00000457062.2_Missense_Mutation_p.D42G|FAM135A_ENST00000370479.3_Missense_Mutation_p.D42G	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	85								p.D42G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GTTTTAAATGATGTTATGATC	0.279																																					p.D85G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A254G	6						.						42.0	45.0	44.0					6																	71185209		2194	4274	6468	71241930	SO:0001583	missense	57579	exon4			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.254A>G	6.37:g.71185209A>G	ENSP00000410768:p.Asp85Gly		71241930	NM_001162529	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473754	0.84640	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.79141	-1.24;1.64;-1.24;-1.24;1.64;-1.24;-1.24	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.86096	0.5851	M	0.81942	2.565	0.50813	D	0.999893	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;D;D;D	0.79108	0.979;0.992;0.989;0.989	D	0.88309	0.2955	10	0.72032	D	0.01	.	15.5385	0.76021	1.0:0.0:0.0:0.0	.	85;85;85;42	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	G	85;42;85;85;42;85;85	ENSP00000410768:D85G;ENSP00000359510:D42G;ENSP00000423785:D85G;ENSP00000422406:D85G;ENSP00000409201:D42G;ENSP00000354913:D85G;ENSP00000423307:D85G	ENSP00000194672:D85G	D	+	2	0	FAM135A	71241930	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.141000	0.66446	0.455000	0.32223	GAT		0.279	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819	
EEF1A1	1915	broad.mit.edu	37	6	74227884	74227884	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:74227884T>G	ENST00000316292.9	-	6	2124	c.1133A>C	c.(1132-1134)aAg>aCg	p.K378T	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K378T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K378T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	378					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)	p.K378T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCGATCAATCTTTTCCTTCAG	0.483											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.K378T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1133C	6						.						15.0	17.0	16.0					6																	74227884		2112	4236	6348	74284605	SO:0001583	missense	1915	exon7			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1133A>C	6.37:g.74227884T>G	ENSP00000339063:p.Lys378Thr	1151	74284605	NM_001402	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064723	0.76187	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.49720	0.77;0.77;0.77	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.000000	0.85682	U	0.000000	T	0.77003	0.4067	H	0.98996	4.395	0.80722	D	1	D;D;D	0.69078	0.991;0.991;0.997	D;D;D	0.68483	0.934;0.934;0.958	D	0.86981	0.2104	10	0.87932	D	0	.	14.7177	0.69284	0.0:0.0:0.0:1.0	.	378;378;378	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	T	378;376;378;378;357	ENSP00000339063:K378T;ENSP00000339053:K378T;ENSP00000330054:K378T	ENSP00000339053:K378T	K	-	2	0	EEF1A1	74284605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.654000	0.83653	1.929000	0.55896	0.454000	0.30748	AAG		0.483	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402	
COL12A1	1303	broad.mit.edu	37	6	75825621	75825621	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:75825621C>T	ENST00000322507.8	-	49	7885	c.7576G>A	c.(7576-7578)Gca>Aca	p.A2526T	COL12A1_ENST00000483888.2_Missense_Mutation_p.A2526T|COL12A1_ENST00000345356.6_Missense_Mutation_p.A1362T|COL12A1_ENST00000416123.2_Missense_Mutation_p.A2526T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2526	Laminin G-like.|Nonhelical region (NC3).				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.A2526T(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						AGGTTGTATGCTTCAAGCATT	0.343																																					p.A2526T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7576A	6						.						81.0	77.0	78.0					6																	75825621		1854	4093	5947	75882341	SO:0001583	missense	1303	exon49			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.7576G>A	6.37:g.75825621C>T	ENSP00000325146:p.Ala2526Thr		75882341	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925775	0.52759	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	4.84	3.97	0.46021	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.059521	0.64402	D	0.000005	T	0.03520	0.0101	L	0.58810	1.83	0.37078	D	0.898857	D;D	0.61080	0.989;0.965	P;P	0.59595	0.86;0.543	T	0.40850	-0.9541	10	0.56958	D	0.05	.	10.9759	0.47465	0.1535:0.7155:0.131:0.0	.	1362;2526	Q99715-2;Q99715	.;COCA1_HUMAN	T	2526;164;2526;1362;2526;2526;80	ENSP00000325146:A2526T;ENSP00000399812:A164T;ENSP00000305147:A1362T;ENSP00000412864:A2526T;ENSP00000421216:A2526T;ENSP00000423423:A80T	ENSP00000325146:A2526T	A	-	1	0	COL12A1	75882341	1.000000	0.71417	0.991000	0.47740	0.121000	0.20230	3.853000	0.55941	1.012000	0.39366	0.655000	0.94253	GCA		0.343	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
LCA5	167691	broad.mit.edu	37	6	80197018	80197018	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:80197018C>A	ENST00000392959.1	-	9	2408	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	599					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E599D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358																																					p.E599D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1797T	6						.						96.0	97.0	97.0					6																	80197018		2203	4300	6503	80253737	SO:0001583	missense	167691	exon9				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1797G>T	6.37:g.80197018C>A	ENSP00000376686:p.Glu599Asp		80253737	NM_181714	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016911	0.54576	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.38401	1.14;1.14	5.55	2.58	0.30949	.	0.119371	0.56097	D	0.000036	T	0.26159	0.0638	L	0.31664	0.95	0.32290	N	0.566438	D	0.89917	1.0	D	0.85130	0.997	T	0.19321	-1.0309	10	0.87932	D	0	-8.9685	4.3864	0.11319	0.146:0.5006:0.0:0.3534	.	599	Q86VQ0	LCA5_HUMAN	D	599	ENSP00000358861:E599D;ENSP00000376686:E599D	ENSP00000358861:E599D	E	-	3	2	LCA5	80253737	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	0.577000	0.23758	0.217000	0.20800	0.585000	0.79938	GAG		0.358	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
LCA5	167691	broad.mit.edu	37	6	80203459	80203459	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:80203459C>T	ENST00000392959.1	-	5	1340	c.729G>A	c.(727-729)tcG>tcA	p.S243S	LCA5_ENST00000369846.4_Silent_p.S243S|LCA5_ENST00000467898.3_Silent_p.S243S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	243					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.S243S(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CAAGGTTTTTCGATAGCTCCT	0.343																																					p.S243S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	6						.						90.0	82.0	85.0					6																	80203459		2203	4300	6503	80260178	SO:0001819	synonymous_variant	167691	exon5				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.729G>A	6.37:g.80203459C>T			80260178	NM_181714	E1P542|Q9BWX7	Silent	SNP	ENST00000392959.1	37	CCDS4990.1																																																																																				0.343	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
LCA5	167691	broad.mit.edu	37	6	80222980	80222980	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:80222980C>A	ENST00000392959.1	-	4	1280	c.669G>T	c.(667-669)aaG>aaT	p.K223N	LCA5_ENST00000369846.4_Missense_Mutation_p.K223N|LCA5_ENST00000467898.3_Missense_Mutation_p.K223N	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	223					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.K223N(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AAACTAGTTTCTTTGCCAAAT	0.353																																					p.K223N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G669T	6						.						144.0	139.0	140.0					6																	80222980		2203	4300	6503	80279699	SO:0001583	missense	167691	exon4				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.669G>T	6.37:g.80222980C>A	ENSP00000376686:p.Lys223Asn		80279699	NM_181714	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822341	0.71028	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.77620	-1.11;-1.11	6.07	6.07	0.98685	.	0.131898	0.51477	D	0.000088	D	0.82751	0.5105	M	0.63843	1.955	0.43330	D	0.995368	D;D	0.76494	0.963;0.999	P;D	0.71656	0.798;0.974	D	0.84027	0.0357	10	0.72032	D	0.01	-19.572	12.8913	0.58073	0.0:0.9266:0.0:0.0734	.	223;223	B4DRL2;Q86VQ0	.;LCA5_HUMAN	N	223	ENSP00000358861:K223N;ENSP00000376686:K223N	ENSP00000358861:K223N	K	-	3	2	LCA5	80279699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.558000	0.45879	2.885000	0.99019	0.655000	0.94253	AAG		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
ELOVL4	6785	broad.mit.edu	37	6	80629172	80629172	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:80629172G>T	ENST00000369816.4	-	5	934	c.634C>A	c.(634-636)Ctt>Att	p.L212I		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	212					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.L212I(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)	TTCCACCAAAGATATTTCTGA	0.338																																					p.L212I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634A	6						.						99.0	93.0	95.0					6																	80629172		2203	4299	6502	80685891	SO:0001583	missense	6785	exon5			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.634C>A	6.37:g.80629172G>T	ENSP00000358831:p.Leu212Ile		80685891	NM_022726	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338728	0.60963	.	.	ENSG00000118402	ENST00000369816	T	0.21361	2.01	5.81	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.63169	1.94	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.03887	-1.0995	10	0.54805	T	0.06	-19.8465	10.065	0.42297	0.2356:0.0:0.7644:0.0	.	212	Q9GZR5	ELOV4_HUMAN	I	212	ENSP00000358831:L212I	ENSP00000358831:L212I	L	-	1	0	ELOVL4	80685891	1.000000	0.71417	0.996000	0.52242	0.476000	0.33039	4.154000	0.58125	1.474000	0.48178	0.650000	0.86243	CTT		0.338	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1		
IBTK	25998	broad.mit.edu	37	6	82921222	82921222	+	Missense_Mutation	SNP	G	G	T	rs527414843		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:82921222G>T	ENST00000306270.7	-	14	2908	c.2359C>A	c.(2359-2361)Ctt>Att	p.L787I	RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000510291.1_Missense_Mutation_p.L787I|IBTK_ENST00000503631.1_Missense_Mutation_p.L586I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	787	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.L787I(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTAGCACAAAGAACACATTTA	0.338																																					p.L787I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2359A	6						.						86.0	81.0	82.0					6																	82921222		2203	4300	6503	82977941	SO:0001583	missense	25998	exon14			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2359C>A	6.37:g.82921222G>T	ENSP00000305721:p.Leu787Ile		82977941	NM_015525	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882665	0.72410	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	D;D;D	0.89343	-2.5;-2.5;-2.5	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.90705	3.14	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;0.998;0.999	D	0.94312	0.7546	10	0.48119	T	0.1	-18.763	20.6721	0.99693	0.0:0.0:1.0:0.0	.	586;787;787;787	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	I	787;586;787	ENSP00000305721:L787I;ENSP00000422762:L586I;ENSP00000426405:L787I	ENSP00000305721:L787I	L	-	1	0	IBTK	82977941	1.000000	0.71417	1.000000	0.80357	0.258000	0.26162	7.578000	0.82498	2.894000	0.99253	0.591000	0.81541	CTT		0.338	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	
CYB5R4	51167	broad.mit.edu	37	6	84644378	84644378	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:84644378C>A	ENST00000369681.5	+	11	1019	c.879C>A	c.(877-879)ttC>ttA	p.F293L	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	293	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				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.F293L(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)		CGAGGCTTTTCTGTTTGATGC	0.393																																					p.F293L	Esophageal Squamous(86;1289 1332 25971 40349 52675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C879A	6						.						128.0	124.0	126.0					6																	84644378		2203	4300	6503	84701097	SO:0001583	missense	51167	exon11			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.879C>A	6.37:g.84644378C>A	ENSP00000358695:p.Phe293Leu		84701097	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594843	0.66219	.	.	ENSG00000065615	ENST00000369681	D	0.93659	-3.26	5.76	5.76	0.90799	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.134564	0.64402	N	0.000001	D	0.85805	0.5782	L	0.44542	1.39	0.80722	D	1	B	0.12013	0.005	B	0.26517	0.07	T	0.80379	-0.1407	10	0.22109	T	0.4	.	12.8691	0.57955	0.0:0.925:0.0:0.075	.	293	Q7L1T6	NB5R4_HUMAN	L	293	ENSP00000358695:F293L	ENSP00000358695:F293L	F	+	3	2	CYB5R4	84701097	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.601000	0.46249	2.727000	0.93392	0.650000	0.86243	TTC		0.393	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	
SYNCRIP	10492	broad.mit.edu	37	6	86324652	86324652	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:86324652C>T	ENST00000369622.3	-	11	2194	c.1694G>A	c.(1693-1695)cGc>cAc	p.R565H	SYNCRIP_ENST00000355238.6_Intron|RP11-321N4.5_ENST00000503906.1_Intron	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	565					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|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)|RNA binding (GO:0003723)	p.R565H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATCAGCTTTGCGCTTTCCTCC	0.602																																					p.R530H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589A	6						.						153.0	151.0	152.0					6																	86324652		2203	4300	6503	86381371	SO:0001583	missense	10492	exon10			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1694G>A	6.37:g.86324652C>T	ENSP00000358635:p.Arg565His		86381371	NM_001159675	E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157159	0.57259	.	.	ENSG00000135316	ENST00000369622	T	0.32023	1.47	5.19	5.19	0.71726	.	0.407810	0.29198	N	0.012859	T	0.49406	0.1555	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.74674	0.964;0.984	T	0.53063	-0.8491	10	0.66056	D	0.02	.	18.7087	0.91648	0.0:1.0:0.0:0.0	.	565;530	O60506;O60506-2	HNRPQ_HUMAN;.	H	565	ENSP00000358635:R565H	ENSP00000358635:R565H	R	-	2	0	SYNCRIP	86381371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.419000	0.82065	0.563000	0.77884	CGC		0.602	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372	
ZNF292	23036	broad.mit.edu	37	6	87966154	87966154	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:87966154C>T	ENST00000369577.3	+	8	2850	c.2807C>T	c.(2806-2808)gCt>gTt	p.A936V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A931V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	936						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.A791V(1)|p.A936V(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)		AGTGAAGTAGCTGTGTCCATT	0.463																																					p.A936V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2807T	6						.						78.0	74.0	76.0					6																	87966154		1907	4125	6032	88022873	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.2807C>T	6.37:g.87966154C>T	ENSP00000358590:p.Ala936Val		88022873	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891490	0.17613	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07216	3.21;3.22	5.77	4.87	0.63330	.	0.594677	0.18507	N	0.139176	T	0.02119	0.0066	N	0.19112	0.55	0.32791	N	0.501197	B	0.09022	0.002	B	0.06405	0.002	T	0.44772	-0.9306	10	0.25751	T	0.34	.	10.4682	0.44620	0.1346:0.796:0.0:0.0694	.	936	O60281	ZN292_HUMAN	V	936;931	ENSP00000358590:A936V;ENSP00000342847:A931V	ENSP00000342847:A931V	A	+	2	0	ZNF292	88022873	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.312000	0.33574	2.729000	0.93468	0.591000	0.81541	GCT		0.463	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
C6orf165	154313	broad.mit.edu	37	6	88123615	88123615	+	Nonsense_Mutation	SNP	C	C	T	rs370690253		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:88123615C>T	ENST00000507897.1	+	4	363	c.280C>T	c.(280-282)Cga>Tga	p.R94*	C6ORF165_ENST00000369562.4_Nonsense_Mutation_p.R94*			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	94								p.R94*(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)		TTATACGAATCGAGGTAATGT	0.313																																					p.R94X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C280T	6						.	C	stop/ARG	0,4404		0,0,2202	69.0	66.0	67.0		280	3.5	1.0	6		67	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained	C6orf165	NM_001031743.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		94/623	88123615	1,12995	2202	4296	6498	88180334	SO:0001587	stop_gained	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.280C>T	6.37:g.88123615C>T	ENSP00000426769:p.Arg94*		88180334	NM_001031743	A8K969|E1P507|Q8N9U4	Nonsense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149032	0.57151	0.0	1.16E-4	ENSG00000213204	ENST00000369562;ENST00000480123	.	.	.	5.32	3.5	0.40072	.	0.068726	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2298	0.59936	0.584:0.416:0.0:0.0	.	.	.	.	X	94	.	ENSP00000358575:R94X	R	+	1	2	C6orf165	88180334	0.975000	0.34042	1.000000	0.80357	0.097000	0.18754	0.878000	0.28126	0.580000	0.29522	0.484000	0.47621	CGA		0.313	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
C6orf165	154313	broad.mit.edu	37	6	88125438	88125438	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:88125438G>T	ENST00000507897.1	+	5	401	c.318G>T	c.(316-318)gaG>gaT	p.E106D	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E106D			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	106								p.E106D(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)		GGGTCCTAGAGTCTAGATTAG	0.358																																					p.E106D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G318T	6						.						81.0	84.0	83.0					6																	88125438		2203	4300	6503	88182157	SO:0001583	missense	154313	exon5			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.318G>T	6.37:g.88125438G>T	ENSP00000426769:p.Glu106Asp		88182157	NM_001031743	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729790	0.30684	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.21543	2.0;2.0	5.6	1.11	0.20524	.	0.112746	0.56097	D	0.000021	T	0.06872	0.0175	L	0.45581	1.43	0.34387	D	0.693736	B;B	0.13145	0.007;0.002	B;B	0.16722	0.016;0.003	T	0.09079	-1.0691	10	0.48119	T	0.1	.	6.4681	0.21993	0.3276:0.1292:0.5432:0.0	.	106;106	Q8IYR0;E1P509	CF165_HUMAN;.	D	106	ENSP00000358575:E106D;ENSP00000422494:E106D	ENSP00000358575:E106D	E	+	3	2	C6orf165	88182157	1.000000	0.71417	0.982000	0.44146	0.736000	0.42039	1.565000	0.36386	0.286000	0.22352	-0.234000	0.12200	GAG		0.358	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	88240639	88240639	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:88240639C>T	ENST00000369536.5	-	9	679	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	212					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.E212K(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)		TCTGCTGCTTCTTTATTAACT	0.368																																					p.E212K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G634A	6						.						137.0	134.0	135.0					6																	88240639		2203	4300	6503	88297358	SO:0001583	missense	57038	exon9			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.634G>A	6.37:g.88240639C>T	ENSP00000358549:p.Glu212Lys		88297358	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433853	0.83776	.	.	ENSG00000146282	ENST00000369536	T	0.62364	0.03	6.02	6.02	0.97574	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.134574	0.64402	D	0.000003	T	0.53045	0.1772	L	0.41632	1.29	0.50039	D	0.999848	B	0.25235	0.121	B	0.35971	0.215	T	0.54016	-0.8356	10	0.66056	D	0.02	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	212	Q5T160	SYRM_HUMAN	K	212	ENSP00000358549:E212K	ENSP00000358549:E212K	E	-	1	0	RARS2	88297358	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.865000	0.98341	0.655000	0.94253	GAA		0.368	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
AKIRIN2	55122	broad.mit.edu	37	6	88391445	88391445	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:88391445C>T	ENST00000257787.5	-	2	796	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	91					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)	p.R91Q(1)		large_intestine(4)	4						CTTCTGCATTCGTTTATACTC	0.348																																					p.R91Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	6						.						154.0	124.0	134.0					6																	88391445		2203	4300	6503	88448164	SO:0001583	missense	55122	exon2			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"""chromosome 6 open reading frame 166"""	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.272G>A	6.37:g.88391445C>T	ENSP00000257787:p.Arg91Gln		88448164	NM_018064	Q9BQB1	Missense_Mutation	SNP	ENST00000257787.5	37	CCDS5013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837082	0.97009	.	.	ENSG00000135334	ENST00000257787	T	0.49432	0.78	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.76911	-0.2784	10	0.72032	D	0.01	-4.4041	20.6593	0.99626	0.0:1.0:0.0:0.0	.	91	Q53H80	AKIR2_HUMAN	Q	91	ENSP00000257787:R91Q	ENSP00000257787:R91Q	R	-	2	0	AKIRIN2	88448164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	CGA		0.348	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041455.1	NM_018064	
RNGTT	8732	broad.mit.edu	37	6	89650880	89650880	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:89650880C>T	ENST00000369485.4	-	2	270	c.84G>A	c.(82-84)aaG>aaA	p.K28K	RNGTT_ENST00000369475.3_Silent_p.K28K|RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000265607.6_Silent_p.K28K	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	28	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.K28K(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)		CTAACATTGTCTTCAGAGGTA	0.328																																					p.K28K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G84A	6						.						159.0	156.0	157.0					6																	89650880		2203	4300	6503	89707599	SO:0001819	synonymous_variant	8732	exon2			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.84G>A	6.37:g.89650880C>T			89707599	NM_003800	E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	ENST00000369485.4	37	CCDS5017.1																																																																																				0.328	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		
PNRC1	10957	broad.mit.edu	37	6	89793717	89793717	+	Silent	SNP	G	G	A	rs147195455		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:89793717G>A	ENST00000336032.3	+	2	903	c.786G>A	c.(784-786)tcG>tcA	p.S262S	PNRC1_ENST00000354922.3_Silent_p.S77S|PNRC1_ENST00000369472.1_Silent_p.S77S	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S262S(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-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;0.102)		TTAAAAATTCGCATTTGAAGA	0.358										Multiple Myeloma(7;0.094)																											p.S262S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G786A	6						.	G		1,4405	2.1+/-5.4	0,1,2202	61.0	68.0	66.0		786	1.8	0.2	6	dbSNP_134	66	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PNRC1	NM_006813.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		262/328	89793717	4,13002	2203	4300	6503	89850436	SO:0001819	synonymous_variant	10957	exon2			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.786G>A	6.37:g.89793717G>A			89850436	NM_006813	B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	37	CCDS5018.1																																																																																				0.358	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813	
RRAGD	58528	broad.mit.edu	37	6	90088946	90088946	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:90088946G>T	ENST00000369415.4	-	4	1032	c.756C>A	c.(754-756)atC>atA	p.I252I	RRAGD_ENST00000492783.1_5'UTR|RRAGD_ENST00000359203.3_Silent_p.I101I	NM_021244.4	NP_067067.1			Ras-related GTP binding D									p.I252I(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TACTTACTGAGATAAAGATGT	0.318																																					p.I252I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C756A	6						.						71.0	74.0	73.0					6																	90088946		2202	4300	6502	90145665	SO:0001819	synonymous_variant	58528	exon4			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.756C>A	6.37:g.90088946G>T			90145665	NM_021244		Silent	SNP	ENST00000369415.4	37	CCDS5022.1																																																																																				0.318	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244	
CASP8AP2	9994	broad.mit.edu	37	6	90576717	90576717	+	RNA	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:90576717T>A	ENST00000551025.1	+	0	5145									caspase 8 associated protein 2									p.N1236K(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)		TTAAAAAAAATTTTAACATCT	0.333																																					p.N1236K	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3708A	6						.						21.0	22.0	22.0					6																	90576717		1796	4073	5869	90633438			9994	exon8			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576717T>A			90633438	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.333	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
EPHA7	2045	broad.mit.edu	37	6	94120442	94120442	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:94120442C>A	ENST00000369303.4	-	3	793	c.609G>T	c.(607-609)aaG>aaT	p.K203N	EPHA7_ENST00000369297.1_Missense_Mutation_p.K203N	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	203	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.K203N(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)		ACCAGCACTTCTTGTAGTACA	0.433																																					p.K203N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G609T	6						.						80.0	84.0	83.0					6																	94120442		2203	4300	6503	94177163	SO:0001583	missense	2045	exon3			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.609G>T	6.37:g.94120442C>A	ENSP00000358309:p.Lys203Asn		94177163	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095423	0.76870	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.10960	2.82;2.82	5.66	5.66	0.87406	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	M	0.85197	2.74	0.58432	D	0.999997	D;D;D;D	0.89917	0.989;0.999;0.999;1.0	D;D;D;D	0.83275	0.978;0.949;0.993;0.996	T	0.16335	-1.0406	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	203;203;203;203	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	N	203	ENSP00000358309:K203N;ENSP00000358303:K203N	ENSP00000358303:K203N	K	-	3	2	EPHA7	94177163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.826000	0.97356	0.655000	0.94253	AAG		0.433	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
EPHA7	2045	broad.mit.edu	37	6	94120823	94120823	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:94120823G>T	ENST00000369303.4	-	3	412	c.228C>A	c.(226-228)gtC>gtA	p.V76V	EPHA7_ENST00000369297.1_Silent_p.V76V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	76	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			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)		TGGGCTCCATGACTTGGCACA	0.418																																					p.V76V												.	.	0			c.C228A	6						.						109.0	114.0	112.0					6																	94120823		2200	4299	6499	94177544	SO:0001819	synonymous_variant	2045	exon3			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.228C>A	6.37:g.94120823G>T			94177544	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
UFL1	23376	broad.mit.edu	37	6	96973207	96973207	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:96973207G>T	ENST00000369278.4	+	4	353	c.287G>T	c.(286-288)aGa>aTa	p.R96I		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	96	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)	p.R96I(1)									ATTGAAAATAGAATTGGTGAC	0.274																																					p.R96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287T	6						.						89.0	109.0	103.0					6																	96973207		2202	4284	6486	97079928	SO:0001583	missense	23376	exon4			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.287G>T	6.37:g.96973207G>T	ENSP00000358283:p.Arg96Ile		97079928	NM_015323	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737677	0.89573	.	.	ENSG00000014123	ENST00000369278	T	0.44881	0.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.61036	1.89	0.80722	D	1	D	0.67145	0.996	D	0.69142	0.962	T	0.33317	-0.9873	10	0.20046	T	0.44	-21.883	18.6914	0.91585	0.0:0.0:1.0:0.0	.	96	O94874	UFL1_HUMAN	I	96	ENSP00000358283:R96I	ENSP00000358283:R96I	R	+	2	0	KIAA0776	97079928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.230000	0.78097	2.663000	0.90544	0.650000	0.86243	AGA		0.274	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
USP45	85015	broad.mit.edu	37	6	99891446	99891446	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:99891446G>T	ENST00000327681.6	-	15	2600	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	USP45_ENST00000369233.2_Missense_Mutation_p.H642N|USP45_ENST00000539675.1_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.H690N|USP45_ENST00000392738.2_Missense_Mutation_p.H370N	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	690	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.H690N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTACCTGATGAAATCTTTTC	0.343																																					p.H690N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2068A	6						.						52.0	52.0	52.0					6																	99891446		2203	4300	6503	99998167	SO:0001583	missense	85015	exon15			AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2068C>A	6.37:g.99891446G>T	ENSP00000333376:p.His690Asn		99998167	NM_001080481	B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512754	0.64522	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000369233	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.69	4.82	0.62117	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.173945	0.51477	D	0.000097	T	0.26340	0.0643	L	0.42632	1.34	0.80722	D	1	D;D	0.63046	0.992;0.985	D;P	0.63703	0.917;0.795	T	0.03112	-1.1071	10	0.46703	T	0.11	.	10.7149	0.46006	0.1452:0.0:0.8548:0.0	.	690;370	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	N	370;690;690;642	ENSP00000376495:H370N;ENSP00000424372:H690N;ENSP00000333376:H690N;ENSP00000358236:H642N	ENSP00000333376:H690N	H	-	1	0	USP45	99998167	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	6.444000	0.73452	1.413000	0.46997	0.563000	0.77884	CAT		0.343	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
KIF25	3834	broad.mit.edu	37	6	168440763	168440763	+	Silent	SNP	G	G	A	rs146483835		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:168440763G>A	ENST00000443060.2	+	7	904	c.513G>A	c.(511-513)tcG>tcA	p.S171S	KIF25_ENST00000354419.2_Silent_p.S171S|KIF25_ENST00000351261.3_Silent_p.S171S			Q9UIL4	KIF25_HUMAN	kinesin family member 25	171	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.S171S(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)		GCAGCGCCTCGAAACTGATGG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18640	0.0		0.0	False		,,,				2504	0.001				p.S171S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513A	6						.	G	,	3,4403	6.2+/-15.9	0,3,2200	93.0	87.0	89.0		513,513	-7.6	0.0	6	dbSNP_134	89	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	171/333,171/385	168440763	3,13003	2203	4300	6503	168183612	SO:0001819	synonymous_variant	3834	exon6			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.513G>A	6.37:g.168440763G>A			168183612	NM_030615	O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	CCDS5305.1																																																																																				0.607	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
MYH13	8735	broad.mit.edu	37	17	10227345	10227345	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:10227345C>A	ENST00000418404.3	-	22	3091	c.2928G>T	c.(2926-2928)gaG>gaT	p.E976D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E976D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	976					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.E976D(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						TCACCTTGTTCTCTGTGGCAT	0.483																																					p.E976D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2928T	17						.						93.0	88.0	90.0					17																	10227345		2197	4299	6496	10168070	SO:0001583	missense	8735	exon23			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.2928G>T	17.37:g.10227345C>A	ENSP00000404570:p.Glu976Asp		10168070	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488425	0.64074	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.85861	-2.04	4.37	3.4	0.38934	.	.	.	.	.	T	0.79873	0.4521	L	0.48935	1.535	0.31492	N	0.665896	B;B	0.28512	0.182;0.214	B;B	0.32289	0.076;0.143	T	0.75102	-0.3436	9	0.23891	T	0.37	.	9.884	0.41251	0.0:0.8342:0.0:0.1658	.	602;976	B4DFX9;Q9UKX3	.;MYH13_HUMAN	D	976;602	ENSP00000252172:E976D	ENSP00000252172:E976D	E	-	3	2	MYH13	10168070	0.026000	0.19158	1.000000	0.80357	0.981000	0.71138	-0.686000	0.05161	1.174000	0.42811	0.655000	0.94253	GAG		0.483	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	
MYH2	4620	broad.mit.edu	37	17	10443995	10443995	+	Silent	SNP	C	C	A	rs374415748		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:10443995C>A	ENST00000245503.5	-	11	1308	c.924G>T	c.(922-924)acG>acT	p.T308T	MYH2_ENST00000532183.2_Silent_p.T308T|MYH2_ENST00000397183.2_Silent_p.T308T|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	308	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.T308T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATATGGGTTCGTGGTAATCA	0.388																																					p.T308T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G924T	17						.						97.0	89.0	92.0					17																	10443995		2203	4300	6503	10384720	SO:0001819	synonymous_variant	4620	exon11				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.924G>T	17.37:g.10443995C>A			10384720	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	CCDS11156.1																																																																																				0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
DNAH9	1770	broad.mit.edu	37	17	11556132	11556132	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:11556132G>T	ENST00000262442.4	+	14	2476	c.2408G>T	c.(2407-2409)aGa>aTa	p.R803I	DNAH9_ENST00000454412.2_Missense_Mutation_p.R803I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	803	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.R803I(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)		CTTGAACAAAGAATTCAGAAA	0.358																																					p.R803I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2408T	17						.						110.0	108.0	108.0					17																	11556132		2203	4300	6503	11496857	SO:0001583	missense	1770	exon14			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.2408G>T	17.37:g.11556132G>T	ENSP00000262442:p.Arg803Ile		11496857	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872174	0.91587	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25912	1.81;1.77	5.38	5.38	0.77491	.	0.132404	0.50627	D	0.000104	T	0.56046	0.1959	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.54609	-0.8268	10	0.31617	T	0.26	.	19.4938	0.95064	0.0:0.0:1.0:0.0	.	803	Q9NYC9	DYH9_HUMAN	I	803	ENSP00000262442:R803I;ENSP00000414874:R803I	ENSP00000262442:R803I	R	+	2	0	DNAH9	11496857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.860000	0.92272	2.691000	0.91804	0.650000	0.86243	AGA		0.358	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ZNF624	57547	broad.mit.edu	37	17	16527011	16527011	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:16527011A>C	ENST00000311331.7	-	6	1280	c.1189T>G	c.(1189-1191)Ttt>Gtt	p.F397V		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	397					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.F397V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCACTAAAAGCTTTCCCG	0.403																																					p.F397V	NSCLC(186;1023 2134 13330 38202 39800)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1189G	17						.						97.0	97.0	97.0					17																	16527011		2203	4300	6503	16467736	SO:0001583	missense	57547	exon6			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1189T>G	17.37:g.16527011A>C	ENSP00000310472:p.Phe397Val		16467736	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.976164	0.53720	.	.	ENSG00000197566	ENST00000311331	T	0.46063	0.88	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70281	0.3206	H	0.95645	3.7	0.37254	D	0.906693	D	0.76494	0.999	D	0.74348	0.983	T	0.79152	-0.1921	9	0.87932	D	0	.	9.3624	0.38203	1.0:0.0:0.0:0.0	.	397	Q9P2J8	ZN624_HUMAN	V	397	ENSP00000310472:F397V	ENSP00000310472:F397V	F	-	1	0	ZNF624	16467736	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	8.390000	0.90175	1.528000	0.49103	0.455000	0.32223	TTT		0.403	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
FLII	2314	broad.mit.edu	37	17	18152023	18152023	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:18152023C>A	ENST00000327031.4	-	18	2256	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D	FLII_ENST00000579294.1_Missense_Mutation_p.E666D|FLII_ENST00000545457.2_Missense_Mutation_p.E622D|FLII_ENST00000379450.4_Missense_Mutation_p.E591D|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	677	Interaction with ACTL6A.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TGTTAATTTTCTCTGCAAAGA	0.562											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E677D												.	.	0			c.G2031T	17						.						263.0	285.0	278.0					17																	18152023		2203	4300	6503	18092748	SO:0001583	missense	2314	exon18			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2031G>T	17.37:g.18152023C>A	ENSP00000324573:p.Glu677Asp	723	18092748	NM_002018	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818003	0.71028	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.57273	0.41;0.41	5.54	3.44	0.39384	Gelsolin domain (1);	0.093509	0.64402	D	0.000001	T	0.60560	0.2278	L	0.48642	1.525	0.80722	D	1	D;D;P;P;D	0.76494	0.999;0.999;0.537;0.937;0.997	D;D;B;P;D	0.80764	0.994;0.994;0.315;0.861;0.992	T	0.57039	-0.7879	10	0.45353	T	0.12	-25.7083	7.3939	0.26926	0.1322:0.7119:0.0:0.1559	.	591;591;677;677;646	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	D	677;677;591	ENSP00000324573:E677D;ENSP00000368763:E591D	ENSP00000324573:E677D	E	-	3	2	FLII	18092748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.465000	0.45075	0.611000	0.30052	0.462000	0.41574	GAG		0.562	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018	
SRR	63826	broad.mit.edu	37	17	2224606	2224606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:2224606G>T	ENST00000344595.5	+	5	724	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	136					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)	p.E136*(1)		NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	TCAGTCCAGAGAAAATGTTGC	0.393																																					p.E136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G406T	17						.						91.0	101.0	98.0					17																	2224606		2203	4300	6503	2171356	SO:0001587	stop_gained	63826	exon5			AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.406G>T	17.37:g.2224606G>T	ENSP00000339435:p.Glu136*		2171356	NM_021947	D3DTI5|Q6IA55	Nonsense_Mutation	SNP	ENST00000344595.5	37	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	G	37	6.226365	0.97394	.	.	ENSG00000167720	ENST00000344595	.	.	.	5.86	4.82	0.62117	.	0.353536	0.32819	N	0.005615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.7794	8.6011	0.33745	0.1909:0.0:0.8091:0.0	.	.	.	.	X	136	.	ENSP00000339435:E136X	E	+	1	0	SRR	2171356	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.205000	0.42770	2.771000	0.95319	0.563000	0.77884	GAA		0.393	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2	NM_021947	
TSR1	55720	broad.mit.edu	37	17	2237999	2237999	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:2237999G>A	ENST00000301364.5	-	5	1827	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	SGSM2_ENST00000426855.2_5'Flank|SGSM2_ENST00000574563.1_5'Flank|SGSM2_ENST00000268989.3_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.R234W	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	250					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.R250W(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGGTAGGCCCGCCGATCTCGA	0.483																																					p.R250W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C748T	17						.						91.0	90.0	90.0					17																	2237999		2203	4300	6503	2184749	SO:0001583	missense	55720	exon5			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.748C>T	17.37:g.2237999G>A	ENSP00000301364:p.Arg250Trp		2184749	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879816	0.72294	.	.	ENSG00000167721	ENST00000301364	T	0.58506	0.33	5.4	4.42	0.53409	AARP2CN (2);	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87242	0.2267	10	0.87932	D	0	-5.8917	14.5363	0.67963	0.0:0.0:0.8523:0.1477	.	250	Q2NL82	TSR1_HUMAN	W	250	ENSP00000301364:R250W	ENSP00000301364:R250W	R	-	1	2	TSR1	2184749	1.000000	0.71417	0.993000	0.49108	0.624000	0.37722	6.189000	0.72051	1.257000	0.44085	-0.181000	0.13052	CGG		0.483	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
METTL16	79066	broad.mit.edu	37	17	2344815	2344815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:2344815G>A	ENST00000263092.6	-	7	894	c.767C>T	c.(766-768)gCg>gTg	p.A256V	METTL16_ENST00000538844.1_Missense_Mutation_p.A38V|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	256							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.A256V(2)		kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTTCAGAGGCGCCAGGCTGCA	0.418																																					p.A256V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C767T	17						.						74.0	74.0	74.0					17																	2344815		1864	4098	5962	2291565	SO:0001583	missense	79066	exon7			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.767C>T	17.37:g.2344815G>A	ENSP00000263092:p.Ala256Val		2291565	NM_024086	D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118941	0.77323	.	.	ENSG00000127804	ENST00000263092;ENST00000538844	T;T	0.48522	0.87;0.81	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	N	0.14661	0.345	0.80722	D	1	P	0.42584	0.784	B	0.38458	0.274	T	0.12630	-1.0540	10	0.37606	T	0.19	-8.8415	15.433	0.75116	0.0:0.0:1.0:0.0	.	256	Q86W50	MET16_HUMAN	V	256;38	ENSP00000263092:A256V;ENSP00000443633:A38V	ENSP00000263092:A256V	A	-	2	0	METTL16	2291565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.246000	0.89828	2.714000	0.92807	0.650000	0.86243	GCG		0.418	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086	
KCNJ12	3768	broad.mit.edu	37	17	21319683	21319683	+	Silent	SNP	G	G	A	rs111482429	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:21319683G>A	ENST00000583088.1	+	3	1924	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	KCNJ12_ENST00000331718.5_Silent_p.S343S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	343				S -> L (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.S343S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTGACTACTCGCACTTCCACA	0.582										Prostate(3;0.18)																											p.S343S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1029A	17						.	G		1,4405	2.1+/-5.4	0,1,2202	154.0	153.0	153.0		1029	-5.5	1.0	17	dbSNP_132	153	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		343/434	21319683	1,13005	2203	4300	6503	21260276	SO:0001819	synonymous_variant	3768	exon3			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1029G>A	17.37:g.21319683G>A			21260276	NM_021012	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	CCDS11219.1																																																																																				0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
EFCAB5	374786	broad.mit.edu	37	17	28296034	28296034	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:28296034T>G	ENST00000394835.3	+	4	608	c.416T>G	c.(415-417)cTg>cGg	p.L139R	EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000536908.2_Missense_Mutation_p.L83R|EFCAB5_ENST00000378738.3_Missense_Mutation_p.L139R|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.L139R|EFCAB5_ENST00000320856.5_Missense_Mutation_p.L139R	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	139							calcium ion binding (GO:0005509)	p.L139R(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGAAAATCTGAAGAAGGAA	0.378																																					p.L83R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T248G	17						.						37.0	34.0	35.0					17																	28296034		1816	4069	5885	25320160	SO:0001583	missense	374786	exon4			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.416T>G	17.37:g.28296034T>G	ENSP00000378312:p.Leu139Arg		25320160	NM_001145053	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	T	7.818	0.717225	0.15372	.	.	ENSG00000176927	ENST00000448319;ENST00000536908;ENST00000421238;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598	T;T;T;T;T	0.26660	1.73;2.76;2.76;2.06;1.72	5.48	4.39	0.52855	.	.	.	.	.	T	0.34337	0.0894	L	0.43152	1.355	0.21256	N	0.999747	P;P;P;P	0.50369	0.934;0.934;0.585;0.836	P;P;P;P	0.58077	0.832;0.784;0.577;0.577	T	0.13308	-1.0514	9	0.59425	D	0.04	0.572	6.0214	0.19630	0.1476:0.0834:0.0:0.769	.	83;139;139;139	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	R	83;83;83;139;139;139;139;83	ENSP00000440619:L83R;ENSP00000378312:L139R;ENSP00000322003:L139R;ENSP00000378309:L139R;ENSP00000368012:L139R	ENSP00000322003:L139R	L	+	2	0	EFCAB5	25320160	0.009000	0.17119	0.823000	0.32752	0.121000	0.20230	0.229000	0.17833	0.991000	0.38814	0.482000	0.46254	CTG		0.378	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529	
CPD	1362	broad.mit.edu	37	17	28789449	28789449	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:28789449T>G	ENST00000225719.4	+	20	3954	c.3878T>G	c.(3877-3879)aTa>aGa	p.I1293R	CPD_ENST00000543464.2_Missense_Mutation_p.I1046R	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1293	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.I1293R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GATAACCGGATATTTGGTTTG	0.358																																					p.I1046R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3137G	17						.						188.0	170.0	176.0					17																	28789449		2203	4300	6503	25813575	SO:0001583	missense	1362	exon20			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.3878T>G	17.37:g.28789449T>G	ENSP00000225719:p.Ile1293Arg		25813575	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594303	0.86953	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.13196	2.61;2.61	5.39	5.39	0.77823	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.051948	0.64402	D	0.000001	T	0.22166	0.0534	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.66196	0.77;0.942	T	0.03354	-1.1045	10	0.62326	D	0.03	-5.3444	14.5957	0.68403	0.0:0.0:0.0:1.0	.	1046;1293	F5GZH6;O75976	.;CBPD_HUMAN	R	1293;1046	ENSP00000225719:I1293R;ENSP00000444443:I1046R	ENSP00000225719:I1293R	I	+	2	0	CPD	25813575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	2.028000	0.59812	0.528000	0.53228	ATA		0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
ATAD5	79915	broad.mit.edu	37	17	29161838	29161838	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:29161838A>C	ENST00000321990.4	+	2	1117	c.739A>C	c.(739-741)Aac>Cac	p.N247H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	247					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.N247H(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)				AAGCCATGCAAACTCTAGAGA	0.338																																					p.N247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A739C	17						.						80.0	84.0	83.0					17																	29161838		2202	4300	6502	26185964	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.739A>C	17.37:g.29161838A>C	ENSP00000313171:p.Asn247His		26185964	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	A	0.920	-0.716215	0.03206	.	.	ENSG00000176208	ENST00000321990	T	0.17854	2.25	5.22	-3.02	0.05446	.	1.430800	0.04024	N	0.300303	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.36744	-0.9735	10	0.51188	T	0.08	.	7.4208	0.27071	0.4801:0.1193:0.4006:0.0	.	247;247	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	H	247	ENSP00000313171:N247H	ENSP00000313171:N247H	N	+	1	0	ATAD5	26185964	0.011000	0.17503	0.000000	0.03702	0.259000	0.26198	1.249000	0.32839	-0.759000	0.04684	0.524000	0.50904	AAC		0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
TEFM	79736	broad.mit.edu	37	17	29226442	29226442	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:29226442C>A	ENST00000581216.1	-	4	1449	c.828G>T	c.(826-828)atG>atT	p.M276I	TEFM_ENST00000579183.1_5'Flank|TEFM_ENST00000580840.1_3'UTR	NM_024683.3	NP_078959.3	Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	276					DNA metabolic process (GO:0006259)|oxidative phosphorylation (GO:0006119)|regulation of transcription, DNA-templated (GO:0006355)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	DNA polymerase processivity factor activity (GO:0030337)|poly(A) RNA binding (GO:0044822)	p.M276I(1)									CATTTCGATTCATGCTCAGCA	0.418																																					p.M276I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G828T	17						.						126.0	120.0	122.0					17																	29226442		1914	4134	6048	26250568	SO:0001583	missense	79736	exon4				CCDS42291.1	17q11.2	2011-12-12	2011-12-12	2011-12-12	ENSG00000172171	ENSG00000172171			26223	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 42"""	C17orf42		11468690, 10843809, 21278163	Standard	NM_024683		Approved	FLJ22729	uc002hfu.2	Q96QE5		ENST00000581216.1:c.828G>T	17.37:g.29226442C>A	ENSP00000462963:p.Met276Ile		26250568	NM_024683	E1P655|Q6GPG5|Q6PJ19|Q96H04|Q9H5Z9	Missense_Mutation	SNP	ENST00000581216.1	37	CCDS42291.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240548	0.39598	.	.	ENSG00000172171	ENST00000306049	.	.	.	6.06	1.85	0.25348	Ribonuclease H-like (1);	0.146425	0.85682	N	0.000000	T	0.44052	0.1275	L	0.42245	1.32	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20174	-1.0283	9	0.39692	T	0.17	-0.5288	6.9729	0.24658	0.1241:0.6825:0.0:0.1934	.	276	Q96QE5	TEFM_HUMAN	I	276	.	ENSP00000306574:M276I	M	-	3	0	C17orf42	26250568	1.000000	0.71417	0.417000	0.26559	0.978000	0.69477	3.253000	0.51469	0.137000	0.18759	-0.127000	0.14921	ATG		0.418	TEFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444498.1	NM_024683	
NF1	4763	broad.mit.edu	37	17	29556891	29556891	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:29556891A>C	ENST00000358273.4	+	22	3272	c.2889A>C	c.(2887-2889)caA>caC	p.Q963H	NF1_ENST00000356175.3_Missense_Mutation_p.Q963H	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	963					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q963H(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGTAGAACAAACCATAGCTA	0.363			"""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.Q963H		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|large_intestine(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	c.A2889C	17						.						92.0	93.0	93.0					17																	29556891		2203	4299	6502	26581017	SO:0001583	missense	4763	exon22	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.2889A>C	17.37:g.29556891A>C	ENSP00000351015:p.Gln963His		26581017	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	14.92	2.680169	0.47886	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65178	-0.14;2.69;2.37	5.66	4.55	0.56014	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	L	0.28400	0.85	0.80722	D	1	B;D;B	0.60575	0.005;0.988;0.028	B;D;B	0.74674	0.003;0.984;0.062	T	0.58584	-0.7611	10	0.22109	T	0.4	.	7.7302	0.28783	0.8155:0.0:0.1845:0.0	.	963;963;963	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	H	963;963;629	ENSP00000351015:Q963H;ENSP00000348498:Q963H;ENSP00000389907:Q629H	ENSP00000348498:Q963H	Q	+	3	2	NF1	26581017	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.643000	0.54374	2.145000	0.66743	0.374000	0.22700	CAA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
EVI2B	2124	broad.mit.edu	37	17	29631380	29631380	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:29631380A>C	ENST00000330927.4	-	2	1402	c.1248T>G	c.(1246-1248)gaT>gaG	p.D416E	EVI2B_ENST00000544462.1_Missense_Mutation_p.D431E|EVI2B_ENST00000577894.1_Missense_Mutation_p.D416E|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	416						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.D416E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CAAGGTTGGAATCTTCTTGGT	0.418																																					p.D416E												.	.	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.T1248G	17						.						117.0	108.0	111.0					17																	29631380		2203	4300	6503	26655506	SO:0001583	missense	2124	exon2				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1248T>G	17.37:g.29631380A>C	ENSP00000333779:p.Asp416Glu		26655506	NM_006495	B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	8.431	0.848544	0.17034	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.40476	1.04;1.03	4.98	-0.546	0.11840	.	0.815812	0.10505	N	0.666826	T	0.24084	0.0583	L	0.27053	0.805	0.19775	N	0.999952	B;B	0.15930	0.015;0.015	B;B	0.16722	0.016;0.016	T	0.28138	-1.0053	10	0.56958	D	0.05	-0.1565	0.8717	0.01215	0.3464:0.1581:0.1028:0.3927	.	431;416	B7Z4A7;P34910	.;EVI2B_HUMAN	E	416;431	ENSP00000333779:D416E;ENSP00000439738:D431E	ENSP00000333779:D416E	D	-	3	2	EVI2B	26655506	0.000000	0.05858	0.009000	0.14445	0.314000	0.28054	-0.389000	0.07342	0.201000	0.20466	-0.438000	0.05819	GAT		0.418	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
EVI2B	2124	broad.mit.edu	37	17	29632028	29632028	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:29632028A>C	ENST00000330927.4	-	2	754	c.600T>G	c.(598-600)taT>taG	p.Y200*	EVI2B_ENST00000544462.1_Nonsense_Mutation_p.Y215*|EVI2B_ENST00000577894.1_Nonsense_Mutation_p.Y200*|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	200						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.Y200*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		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;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		CTATTGAATTATAATTGTTTT	0.343																																					p.Y200X												.	.	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|large_intestine(1)|central_nervous_system(1)	c.T600G	17						.						165.0	169.0	168.0					17																	29632028		2203	4300	6503	26656154	SO:0001587	stop_gained	2124	exon2				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.600T>G	17.37:g.29632028A>C	ENSP00000333779:p.Tyr200*		26656154	NM_006495	B7Z4A7	Nonsense_Mutation	SNP	ENST00000330927.4	37	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614437	0.28712	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	.	.	.	5.46	-1.29	0.09288	.	0.896613	0.09320	N	0.818396	.	.	.	.	.	.	0.22066	N	0.99938	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6017	1.5382	0.02550	0.2741:0.1733:0.384:0.1686	.	.	.	.	X	200;215	.	ENSP00000333779:Y200X	Y	-	3	2	EVI2B	26656154	0.000000	0.05858	0.085000	0.20634	0.255000	0.26057	-0.477000	0.06583	0.054000	0.16065	0.402000	0.26972	TAT		0.343	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
SUZ12	23512	broad.mit.edu	37	17	30310020	30310020	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:30310020G>A	ENST00000322652.5	+	9	1149	c.920G>A	c.(919-921)cGc>cAc	p.R307H	SUZ12_ENST00000580398.1_Missense_Mutation_p.R284H	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	307					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R307H(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TCTAACAGGCGCTTACAGCTT	0.333			T	JAZF1	endometrial stromal tumours																																p.R307H			Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G920A	17						.						55.0	58.0	57.0					17																	30310020		2202	4280	6482	27334133	SO:0001583	missense	23512	exon9			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.920G>A	17.37:g.30310020G>A	ENSP00000316578:p.Arg307His		27334133	NM_015355	Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318426	0.40996	.	.	ENSG00000178691	ENST00000322652	T	0.52526	0.66	4.59	3.61	0.41365	.	0.050738	0.85682	N	0.000000	T	0.57740	0.2074	L	0.55834	1.745	0.58432	D	0.999998	P;D	0.76494	0.926;0.999	B;P	0.59703	0.158;0.862	T	0.58707	-0.7589	10	0.51188	T	0.08	-1.5675	12.7291	0.57187	0.0808:0.0:0.9192:0.0	.	307;307	A8K1U9;Q15022	.;SUZ12_HUMAN	H	307	ENSP00000316578:R307H	ENSP00000316578:R307H	R	+	2	0	SUZ12	27334133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	0.925000	0.37094	0.597000	0.82753	CGC		0.333	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355	
C17orf75	64149	broad.mit.edu	37	17	30658941	30658941	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:30658941A>C	ENST00000577809.1	-	10	1081	c.1032T>G	c.(1030-1032)caT>caG	p.H344Q	RP11-227G15.2_ENST00000580360.1_lincRNA|RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.H344Q	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	344								p.H344Q(1)		ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAAAGCATAATGATTCATTT	0.328																																					p.H344Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1032G	17						.						121.0	116.0	118.0					17																	30658941		1814	4080	5894	27683054	SO:0001583	missense	64149	exon10			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.1032T>G	17.37:g.30658941A>C	ENSP00000464275:p.His344Gln		27683054	NM_022344	Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786158	0.31593	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	M	0.63843	1.955	0.48040	D	0.999571	D	0.89917	1.0	D	0.83275	0.996	T	0.74044	-0.3791	9	0.87932	D	0	-17.1406	9.5439	0.39268	0.9156:0.0:0.0844:0.0	.	344	Q9HAS0	NJMU_HUMAN	Q	344	.	ENSP00000225805:H344Q	H	-	3	2	C17orf75	27683054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.495000	0.45337	2.254000	0.74563	0.459000	0.35465	CAT		0.328	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344	
MYO1D	4642	broad.mit.edu	37	17	31094749	31094749	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:31094749C>T	ENST00000318217.5	-	7	1040	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	MYO1D_ENST00000579584.1_Missense_Mutation_p.E246K|MYO1D_ENST00000583621.1_Missense_Mutation_p.E246K|MYO1D_ENST00000394649.4_Missense_Mutation_p.E158K	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	246	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E246K(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTCTGAATTCGGCAGCATCA	0.363																																					p.E246K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G736A	17						.						88.0	77.0	81.0					17																	31094749		2203	4300	6503	28118862	SO:0001583	missense	4642	exon7			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.736G>A	17.37:g.31094749C>T	ENSP00000324527:p.Glu246Lys		28118862	NM_015194	A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571597	0.65765	.	.	ENSG00000176658	ENST00000318217	T	0.72835	-0.69	6.0	5.01	0.66863	Myosin head, motor domain (2);	0.187967	0.25099	U	0.033151	T	0.70064	0.3181	M	0.62723	1.935	0.50467	D	0.999873	B;B	0.22080	0.064;0.064	B;B	0.26202	0.067;0.067	T	0.68534	-0.5383	10	0.56958	D	0.05	.	14.8407	0.70220	0.0:0.8553:0.1447:0.0	.	157;246	Q7Z3N6;O94832	.;MYO1D_HUMAN	K	246	ENSP00000324527:E246K	ENSP00000324527:E246K	E	-	1	0	MYO1D	28118862	1.000000	0.71417	0.942000	0.38095	0.967000	0.64934	7.487000	0.81328	1.505000	0.48720	0.655000	0.94253	GAA		0.363	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
CCT6B	10693	broad.mit.edu	37	17	33269504	33269504	+	Splice_Site	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:33269504T>G	ENST00000314144.5	-	7	999	c.884A>C	c.(883-885)aAg>aCg	p.K295T	CCT6B_ENST00000436961.3_Splice_Site_p.K250T|CCT6B_ENST00000421975.3_Splice_Site_p.K258T	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	295					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)	p.K295T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CTTTCTCACCTTTTGATTAAT	0.328																																					p.K258T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A773C	17						.						61.0	58.0	59.0					17																	33269504		2203	4296	6499	30293617	SO:0001630	splice_region_variant	10693	exon6			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.885+1A>C	17.37:g.33269504T>G			30293617	NM_001193529	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247073	0.59103	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	D;D;D	0.82526	-1.62;-1.62;-1.62	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.94545	0.8243	H	0.99565	4.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.995;0.986	D	0.95174	0.8293	10	0.87932	D	0	-10.1058	10.7098	0.45977	0.0:0.0:0.0:1.0	.	250;258;295	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	T	258;295;250	ENSP00000398044:K258T;ENSP00000327191:K295T;ENSP00000400917:K250T	ENSP00000327191:K295T	K	-	2	0	CCT6B	30293617	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	7.230000	0.78097	1.676000	0.50930	0.383000	0.25322	AAG		0.328	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584	Missense_Mutation
SLFN5	162394	broad.mit.edu	37	17	33591298	33591298	+	Missense_Mutation	SNP	G	G	A	rs568188480		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:33591298G>A	ENST00000299977.4	+	4	1383	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	412					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R412H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGAAATGCGCCCTTTCTCT	0.403																																					p.R412H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235A	17						.						85.0	84.0	84.0					17																	33591298		2203	4300	6503	30615411	SO:0001583	missense	162394	exon4			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1235G>A	17.37:g.33591298G>A	ENSP00000299977:p.Arg412His		30615411	NM_144975	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622580	0.46840	.	.	ENSG00000166750	ENST00000299977	T	0.01963	4.53	3.5	2.52	0.30459	.	0.194705	0.25570	N	0.029777	T	0.03390	0.0098	L	0.46614	1.455	0.09310	N	0.999997	D	0.69078	0.997	P	0.50082	0.63	T	0.44907	-0.9297	10	0.23891	T	0.37	.	6.6918	0.23177	0.134:0.0:0.866:0.0	.	412	Q08AF3	SLFN5_HUMAN	H	412	ENSP00000299977:R412H	ENSP00000299977:R412H	R	+	2	0	SLFN5	30615411	0.000000	0.05858	0.017000	0.16124	0.779000	0.44077	-1.723000	0.01866	0.810000	0.34279	0.563000	0.77884	CGC		0.403	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
SLFN11	91607	broad.mit.edu	37	17	33679741	33679741	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:33679741C>A	ENST00000394566.1	-	7	2612	c.2340G>T	c.(2338-2340)aaG>aaT	p.K780N	SLFN11_ENST00000308377.4_Missense_Mutation_p.K780N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	780					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGTATTTCTTAATTCGTA	0.463																																					p.K780N												.	.	0			c.G2340T	17						.						61.0	59.0	60.0					17																	33679741		2203	4300	6503	30703854	SO:0001583	missense	91607	exon6			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2340G>T	17.37:g.33679741C>A	ENSP00000378067:p.Lys780Asn		30703854	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	5.528	0.282395	0.10458	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81908	-1.55;-1.55	3.89	-0.407	0.12385	.	1.672360	0.03517	N	0.220424	T	0.79209	0.4407	L	0.53249	1.67	0.09310	N	1	B	0.32731	0.382	B	0.26969	0.075	T	0.65166	-0.6234	10	0.56958	D	0.05	.	10.3183	0.43751	0.6697:0.3303:0.0:0.0	.	780	Q7Z7L1	SLN11_HUMAN	N	780	ENSP00000312402:K780N;ENSP00000378067:K780N	ENSP00000312402:K780N	K	-	3	2	SLFN11	30703854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.620000	0.05565	-0.145000	0.11294	-0.182000	0.12963	AAG		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN13	146857	broad.mit.edu	37	17	33767977	33767977	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:33767977T>G	ENST00000285013.6	-	6	2606	c.2331A>C	c.(2329-2331)acA>acC	p.T777T	SLFN13_ENST00000533791.1_Silent_p.T777T|SLFN13_ENST00000526861.1_Silent_p.T777T|SLFN13_ENST00000534689.1_Silent_p.T459T|SLFN13_ENST00000360502.2_Silent_p.T459T|SLFN13_ENST00000542635.1_Silent_p.T777T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	777						intracellular (GO:0005622)	ATP binding (GO:0005524)	p.T777T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAATAATCTTTGTGTTGCCTG	0.408																																					p.T777T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2331C	17						.						82.0	83.0	82.0					17																	33767977		2203	4300	6503	30792090	SO:0001819	synonymous_variant	146857	exon6			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2331A>C	17.37:g.33767977T>G			30792090	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	CCDS32620.1																																																																																				0.408	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
GAS2L2	246176	broad.mit.edu	37	17	34073222	34073222	+	Missense_Mutation	SNP	C	C	T	rs139833672	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:34073222C>T	ENST00000254466.6	-	6	1321	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A416T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	432					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.A432T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGTTCCCGGCGTCGGTTCCC	0.587																																					p.A432T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294A	17						.	C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	123.0	135.0	131.0		1294	-3.3	0.0	17	dbSNP_134	131	0,8600		0,0,4300	no	missense	GAS2L2	NM_139285.3	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	432/881	34073222	3,13003	2203	4300	6503	31097335	SO:0001583	missense	246176	exon6			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1294G>A	17.37:g.34073222C>T	ENSP00000254466:p.Ala432Thr		31097335	NM_139285	Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	4.071	0.011006	0.07912	6.81E-4	0.0	ENSG00000132139	ENST00000254466	T	0.19105	2.17	5.3	-3.26	0.05064	.	1.554330	0.03483	N	0.215314	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	1	B	0.21688	0.059	B	0.10450	0.005	T	0.16394	-1.0404	10	0.11182	T	0.66	-0.1705	1.8325	0.03133	0.1273:0.3663:0.1243:0.3821	.	432	Q8NHY3	GA2L2_HUMAN	T	432	ENSP00000254466:A432T	ENSP00000254466:A432T	A	-	1	0	GAS2L2	31097335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.557000	0.02166	-0.740000	0.04803	0.655000	0.94253	GCC		0.587	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285	
TRPV3	162514	broad.mit.edu	37	17	3427599	3427599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:3427599C>A	ENST00000576742.1	-	13	1957	c.1636G>T	c.(1636-1638)Gag>Tag	p.E546*	TRPV3_ENST00000301365.4_Nonsense_Mutation_p.E546*|TRPV3_ENST00000572519.1_Nonsense_Mutation_p.E546*	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	546					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.E546K(1)|p.E546*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCGAGGTACTCTTTGTAGGCA	0.522																																					p.E546X												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|skin(1)	c.G1636T	17						.						118.0	107.0	110.0					17																	3427599		2203	4300	6503	3374349	SO:0001587	stop_gained	162514	exon13			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1636G>T	17.37:g.3427599C>A	ENSP00000461518:p.Glu546*		3374349	NM_145068	Q8NDW7|Q8NET9|Q8NFH2	Nonsense_Mutation	SNP	ENST00000576742.1	37	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	16.22	3.062595	0.55432	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	.	.	.	5.16	5.16	0.70880	.	0.225469	0.33253	N	0.005101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-15.5807	13.0489	0.58944	0.1607:0.8393:0.0:0.0	.	.	.	.	X	546;546;530	.	ENSP00000301365:E546X	E	-	1	0	TRPV3	3374349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.935000	0.48963	2.593000	0.87608	0.563000	0.77884	GAG		0.522	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
GPR179	440435	broad.mit.edu	37	17	36485803	36485803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:36485803C>A	ENST00000342292.4	-	11	3669	c.3649G>T	c.(3649-3651)Gaa>Taa	p.E1217*	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1217					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E1217*(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)				ACAGGGGTTTCTTTTGATTGC	0.577																																					p.E1217X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3649T	17						.						129.0	134.0	132.0					17																	36485803		1921	4125	6046	33739329	SO:0001587	stop_gained	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.3649G>T	17.37:g.36485803C>A	ENSP00000345060:p.Glu1217*		33739329	NM_001004334		Nonsense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929904	0.97116	.	.	ENSG00000188888	ENST00000342292	.	.	.	5.32	4.29	0.51040	.	0.497197	0.18488	N	0.139732	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.7248	5.3536	0.16050	0.2032:0.694:0.0:0.1028	.	.	.	.	X	1217	.	ENSP00000345060:E1217X	E	-	1	0	GPR179	33739329	0.001000	0.12720	0.057000	0.19452	0.002000	0.02628	1.105000	0.31086	2.770000	0.95276	0.407000	0.27541	GAA		0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
FBXO47	494188	broad.mit.edu	37	17	37119113	37119113	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:37119113A>C	ENST00000378079.2	-	2	365	c.166T>G	c.(166-168)Tta>Gta	p.L56V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	56	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.							p.L56V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AAATATTTTAAAATTATCTGG	0.363																																					p.L56V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T166G	17						.						34.0	37.0	36.0					17																	37119113		2202	4296	6498	34372639	SO:0001583	missense	494188	exon2				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.166T>G	17.37:g.37119113A>C	ENSP00000367319:p.Leu56Val		34372639	NM_001008777	B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.817403	0.50633	.	.	ENSG00000204952	ENST00000378079	T	0.66638	-0.22	5.14	1.72	0.24424	F-box domain, cyclin-like (2);	0.000000	0.64402	D	0.000002	T	0.67915	0.2944	L	0.29908	0.895	0.34007	D	0.65097	D	0.76494	0.999	D	0.87578	0.998	T	0.72127	-0.4384	10	0.66056	D	0.02	-10.1803	7.4931	0.27473	0.7459:0.0:0.2541:0.0	.	56	Q5MNV8	FBX47_HUMAN	V	56	ENSP00000367319:L56V	ENSP00000367319:L56V	L	-	1	2	FBXO47	34372639	0.946000	0.32159	0.833000	0.33012	0.919000	0.55068	1.311000	0.33562	0.010000	0.14839	-0.543000	0.04237	TTA		0.363	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777	
PLXDC1	57125	broad.mit.edu	37	17	37235397	37235397	+	Missense_Mutation	SNP	C	C	T	rs143709538		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:37235397C>T	ENST00000315392.4	-	10	1221	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	CTD-2206N4.4_ENST00000583447.1_RNA|AC091178.1_ENST00000410562.1_RNA|PLXDC1_ENST00000444911.2_Missense_Mutation_p.R297H|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	337					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.R337H(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGGCGATAGCGGTCAAAGCC	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23654	0.0		0.0	False		,,,				2504	0.0				p.R337H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	17						.	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	105.0	95.0	98.0		1010	5.4	1.0	17	dbSNP_134	98	0,8600		0,0,4300	yes	missense	PLXDC1	NM_020405.4	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	337/501	37235397	2,13004	2203	4300	6503	34488923	SO:0001583	missense	57125	exon10			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1010G>A	17.37:g.37235397C>T	ENSP00000323927:p.Arg337His		34488923	NM_020405	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	CCDS11333.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.30	2.495114	0.44352	4.54E-4	0.0	ENSG00000161381	ENST00000315392;ENST00000444911	T;T	0.17054	2.3;2.3	5.41	5.41	0.78517	.	0.059890	0.64402	D	0.000003	T	0.37999	0.1024	M	0.82132	2.575	0.80722	D	1	D;P	0.56521	0.976;0.858	P;B	0.55455	0.776;0.303	T	0.19063	-1.0317	10	0.87932	D	0	-36.7282	14.5769	0.68255	0.0:1.0:0.0:0.0	.	297;337	B4E173;Q8IUK5	.;PXDC1_HUMAN	H	337;297	ENSP00000323927:R337H;ENSP00000409687:R297H	ENSP00000323927:R337H	R	-	2	0	PLXDC1	34488923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.447000	0.66606	2.826000	0.97356	0.561000	0.74099	CGC		0.532	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	
CDK12	51755	broad.mit.edu	37	17	37665962	37665962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:37665962C>T	ENST00000447079.4	+	7	2647	c.2614C>T	c.(2614-2616)Caa>Taa	p.Q872*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q872*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	872	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.Q872*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTACAGTGGGCAAATCAAACT	0.368			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																											p.Q872X			Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2614T	17						.						126.0	125.0	125.0					17																	37665962		2203	4300	6503	34919488	SO:0001587	stop_gained	51755	exon7			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.2614C>T	17.37:g.37665962C>T	ENSP00000398880:p.Gln872*		34919488	NM_016507	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	39	7.859526	0.98528	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.11	5.11	0.69529	.	0.000000	0.43747	D	0.000539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-9.923	18.92	0.92521	0.0:1.0:0.0:0.0	.	.	.	.	X	872	.	ENSP00000407720:Q872X	Q	+	1	0	CDK12	34919488	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.776000	0.85560	2.551000	0.86045	0.650000	0.86243	CAA		0.368	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
IKZF3	22806	broad.mit.edu	37	17	37948975	37948975	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:37948975T>C	ENST00000346872.3	-	4	436	c.375A>G	c.(373-375)ttA>ttG	p.L125L	IKZF3_ENST00000439016.2_Silent_p.L125L|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Silent_p.L125L|IKZF3_ENST00000350532.3_Silent_p.L125L|IKZF3_ENST00000467757.1_Silent_p.L125L|IKZF3_ENST00000535189.1_Silent_p.L91L|IKZF3_ENST00000439167.2_Silent_p.L91L|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000346243.3_Silent_p.L125L|IKZF3_ENST00000377945.3_Silent_p.L125L	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	125					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L125L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGATGCAGGATAATCCACACA	0.388																																					p.L125L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A375G	17						.						170.0	149.0	156.0					17																	37948975		2203	4300	6503	35202501	SO:0001819	synonymous_variant	22806	exon4			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.375A>G	17.37:g.37948975T>C			35202501	NM_183230	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065453	0.20067	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.96	-0.123	0.13527	.	.	.	.	.	T	0.53546	0.1803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-6.4298	7.3906	0.26907	0.0:0.3893:0.1227:0.488	.	.	.	.	C	79	.	.	Y	-	2	0	IKZF3	35202501	0.992000	0.36948	0.988000	0.46212	0.998000	0.95712	0.247000	0.18179	-0.321000	0.08627	0.533000	0.62120	TAT		0.388	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
TOP2A	7153	broad.mit.edu	37	17	38556814	38556814	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:38556814T>G	ENST00000423485.1	-	22	2924	c.2766A>C	c.(2764-2766)gaA>gaC	p.E922D		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	922					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.E922D(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)	GCTCTGAGATTTCAATGGTTG	0.348																																					p.E922D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2766C	17						.						90.0	76.0	81.0					17																	38556814		1821	4083	5904	35810340	SO:0001583	missense	7153	exon22				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.2766A>C	17.37:g.38556814T>G	ENSP00000411532:p.Glu922Asp		35810340	NM_001067	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652757	0.47362	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.27256	1.68	5.31	1.81	0.25067	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.80982	2.52	0.58432	D	0.999999	D	0.62365	0.991	D	0.67103	0.949	T	0.41734	-0.9492	10	0.52906	T	0.07	.	9.657	0.39932	0.0:0.2765:0.0:0.7235	.	922	P11388	TOP2A_HUMAN	D	922;1002;945;958	ENSP00000411532:E922D	ENSP00000269577:E1002D	E	-	3	2	TOP2A	35810340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.631000	0.37092	0.393000	0.25203	0.533000	0.62120	GAA		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1		
CCR7	1236	broad.mit.edu	37	17	38711971	38711971	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:38711971G>A	ENST00000246657.2	-	3	222	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	CCR7_ENST00000579344.1_Missense_Mutation_p.R48W	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	54					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.R54W(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TTAAAGTTCCGCACGTCCTTC	0.483																																					p.R54W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C160T	17						.						113.0	98.0	103.0					17																	38711971		2203	4300	6503	35965497	SO:0001583	missense	1236	exon3				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.160C>T	17.37:g.38711971G>A	ENSP00000246657:p.Arg54Trp		35965497	NM_001838		Missense_Mutation	SNP	ENST00000246657.2	37	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597060	0.66332	.	.	ENSG00000126353	ENST00000246657	T	0.37915	1.17	4.74	3.75	0.43078	.	0.076485	0.56097	D	0.000034	T	0.58680	0.2139	M	0.87547	2.89	0.54753	D	0.999989	D	0.62365	0.991	P	0.56474	0.799	T	0.69764	-0.5057	10	0.87932	D	0	.	14.5151	0.67814	0.0:0.0:0.8522:0.1478	.	54	P32248	CCR7_HUMAN	W	54	ENSP00000246657:R54W	ENSP00000246657:R54W	R	-	1	2	CCR7	35965497	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.460000	0.53028	1.309000	0.44985	0.561000	0.74099	CGG		0.483	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1		
KRT37	8688	broad.mit.edu	37	17	39580489	39580489	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:39580489C>T	ENST00000225550.3	-	1	286	c.287G>A	c.(286-288)gGc>gAc	p.G96D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	96	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.G96D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGTGTTTTTGCCGTAGGCCCC	0.592																																					p.G96D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	17						.						89.0	74.0	79.0					17																	39580489		2203	4300	6503	36834015	SO:0001583	missense	8688	exon1			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.287G>A	17.37:g.39580489C>T	ENSP00000225550:p.Gly96Asp		36834015	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	5.376	0.254543	0.10185	.	.	ENSG00000108417	ENST00000225550	D	0.82433	-1.61	4.69	4.69	0.59074	.	0.260506	0.27181	N	0.020552	T	0.77519	0.4142	L	0.49778	1.585	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.62821	-0.6773	10	0.23302	T	0.38	.	13.103	0.59231	0.0:1.0:0.0:0.0	.	96	O76014	KRT37_HUMAN	D	96	ENSP00000225550:G96D	ENSP00000225550:G96D	G	-	2	0	KRT37	36834015	0.001000	0.12720	0.003000	0.11579	0.089000	0.18198	1.043000	0.30316	2.169000	0.68431	0.655000	0.94253	GGC		0.592	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
KRT9	3857	broad.mit.edu	37	17	39724630	39724630	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:39724630G>A	ENST00000246662.4	-	6	1243	c.1178C>T	c.(1177-1179)gCt>gTt	p.A393V	KRT9_ENST00000588431.1_Missense_Mutation_p.A160V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	393	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A393V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTTCTCCAGAGCTGCTTTCTA	0.522																																					p.A393V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1178T	17						.						112.0	113.0	113.0					17																	39724630		2203	4300	6503	36978156	SO:0001583	missense	3857	exon6				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1178C>T	17.37:g.39724630G>A	ENSP00000246662:p.Ala393Val		36978156	NM_000226	O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	ENST00000246662.4	37	CCDS32654.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683158	0.68157	.	.	ENSG00000171403	ENST00000246662	D	0.90261	-2.64	5.03	4.05	0.47172	Filament (1);	0.000000	0.32314	N	0.006268	D	0.94735	0.8301	M	0.82517	2.595	0.28936	N	0.891297	D	0.76494	0.999	D	0.69824	0.966	D	0.90662	0.4591	10	0.72032	D	0.01	.	11.817	0.52216	0.0:0.1327:0.7294:0.1378	.	393	P35527	K1C9_HUMAN	V	393	ENSP00000246662:A393V	ENSP00000246662:A393V	A	-	2	0	KRT9	36978156	0.025000	0.19082	0.948000	0.38648	0.598000	0.36846	2.016000	0.40971	1.083000	0.41159	0.471000	0.43371	GCT		0.522	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226	
TTC25	83538	broad.mit.edu	37	17	40094922	40094922	+	RNA	SNP	C	C	T	rs549565054		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:40094922C>T	ENST00000591658.1	+	0	806							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.Y246Y(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGCCGATCTACGCCAGGGAGC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.001				p.Y246Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C738T	17						.						127.0	134.0	132.0					17																	40094922		2059	4192	6251	37348448			83538	exon6			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40094922C>T			37348448	NM_031421	Q6NX40|Q6PJ04|Q9H0K5	Silent	SNP	ENST00000591658.1	37																																																																																					0.587	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421	
DHX58	79132	broad.mit.edu	37	17	40257053	40257053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:40257053C>A	ENST00000251642.3	-	10	1606	c.1384G>T	c.(1384-1386)Gaa>Taa	p.E462*		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	462	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.E462*(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGGAGATTTCATTGGTCAAG	0.577																																					p.E462X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1384T	17						.						96.0	97.0	97.0					17																	40257053		2203	4300	6503	37510579	SO:0001587	stop_gained	79132	exon10			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1384G>T	17.37:g.40257053C>A	ENSP00000251642:p.Glu462*		37510579	NM_024119	Q9HAM6	Nonsense_Mutation	SNP	ENST00000251642.3	37	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	39	7.856709	0.98528	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	.	.	.	4.77	4.77	0.60923	.	0.108403	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.3231	16.5266	0.84332	0.0:1.0:0.0:0.0	.	.	.	.	X	462;425	.	ENSP00000251642:E462X	E	-	1	0	DHX58	37510579	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.620000	0.83070	2.491000	0.84063	0.462000	0.41574	GAA		0.577	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119	
ZZEF1	23140	broad.mit.edu	37	17	3962535	3962535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:3962535G>A	ENST00000381638.2	-	31	5057	c.4933C>T	c.(4933-4935)Cga>Tga	p.R1645*	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1645							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R1645*(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						TAAGTGTCTCGAATTTCTTTG	0.363																																					p.R1645X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4933T	17						.						93.0	89.0	90.0					17																	3962535		2203	4300	6503	3909284	SO:0001587	stop_gained	23140	exon31			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.4933C>T	17.37:g.3962535G>A	ENSP00000371051:p.Arg1645*		3909284	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623732	0.66901	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8145	13.7494	0.62897	0.0:0.0:0.8462:0.1538	.	.	.	.	X	1645	.	ENSP00000371051:R1645X	R	-	1	2	ZZEF1	3909284	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	2.543000	0.45752	2.447000	0.82792	0.555000	0.69702	CGA		0.363	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
RND2	8153	broad.mit.edu	37	17	41180148	41180148	+	Missense_Mutation	SNP	G	G	A	rs369361646		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:41180148G>A	ENST00000587250.2	+	4	478	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	CTD-3199J23.4_ENST00000225973.5_lincRNA|RND2_ENST00000544533.1_Missense_Mutation_p.R124Q			P52198	RND2_HUMAN	Rho family GTPase 2	124					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R124Q(1)		large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTGGACATGCGGACTGACCTG	0.532																																					p.R124Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	17						.	G	GLN/ARG	0,4406		0,0,2203	145.0	103.0	118.0		371	5.3	1.0	17		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	RND2	NM_005440.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/228	41180148	1,13005	2203	4300	6503	38433674	SO:0001583	missense	8153	exon4			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"""ras homolog gene family, member N"""	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.371G>A	17.37:g.41180148G>A	ENSP00000466680:p.Arg124Gln		38433674	NM_005440	A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	ENST00000587250.2	37	CCDS11452.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411799	0.83340	0.0	1.16E-4	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.77229	-1.08	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90614	0.7057	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.92015	0.5621	10	0.87932	D	0	.	19.1238	0.93374	0.0:0.0:1.0:0.0	.	124	P52198	RND2_HUMAN	Q	124	ENSP00000439328:R124Q	ENSP00000225973:R124Q	R	+	2	0	RND2	38433674	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	9.623000	0.98386	2.765000	0.95021	0.591000	0.81541	CGG		0.532	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2	NM_005440	
NAGS	162417	broad.mit.edu	37	17	42085916	42085916	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:42085916G>A	ENST00000293404.3	+	7	1670	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	518	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.		A -> T (in NAGSD; markedly decreases activity). {ECO:0000269|PubMed:15878741}.		arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.A518T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGTCAACCACGCCAAGGGACT	0.552																																					p.A518T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1552A	17	GRCh37	CM052024	NAGS	M		.						171.0	162.0	165.0					17																	42085916		2203	4300	6503	39441442	SO:0001583	missense	162417	exon7			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1552G>A	17.37:g.42085916G>A	ENSP00000293404:p.Ala518Thr		39441442	NM_153006	B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956848	0.92726	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.94138	-3.36	5.33	5.33	0.75918	GCN5-related N-acetyltransferase (GNAT) domain (1);Domain of unknown function DUF619 (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.63843	1.955	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93987	0.7263	10	0.23302	T	0.38	-28.0339	16.505	0.84270	0.0:0.0:1.0:0.0	.	352;518	Q2NKP2;Q8N159	.;NAGS_HUMAN	T	352;518	ENSP00000293404:A518T	ENSP00000293404:A518T	A	+	1	0	NAGS	39441442	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	8.210000	0.89753	2.479000	0.83701	0.462000	0.41574	GCC		0.552	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006	
MAP3K14	9020	broad.mit.edu	37	17	43366611	43366611	+	RNA	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:43366611T>G	ENST00000344686.2	-	0	425							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)	p.K106T(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTGTACTGTTTGGACCCAGC	0.552																																					p.K106T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A317C	17						.						92.0	89.0	90.0					17																	43366611		1965	4166	6131	40722394			9020	exon3			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43366611T>G			40722394	NM_003954	A8K2D8|D3DX67|Q8IYN1	Missense_Mutation	SNP	ENST00000344686.2	37		.	.	.	.	.	.	.	.	.	.	T	20.5	3.996725	0.74818	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.3	5.3	0.74995	.	0.077061	0.53938	D	0.000057	T	0.56202	0.1969	.	.	.	0.34876	D	0.744093	P	0.52577	0.954	P	0.47981	0.563	T	0.71659	-0.4526	7	0.87932	D	0	.	12.9883	0.58604	0.0:0.0:0.0:1.0	.	106	Q99558	M3K14_HUMAN	T	106	.	ENSP00000342059:K106T	K	-	2	0	MAP3K14	40722394	1.000000	0.71417	0.897000	0.35233	0.844000	0.47949	4.805000	0.62561	2.009000	0.58944	0.379000	0.24179	AAA		0.552	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954	
MAPT	4137	broad.mit.edu	37	17	44039727	44039727	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:44039727C>T	ENST00000571987.1	+	1	24	c.24C>T	c.(22-24)ttC>ttT	p.F8F	MAPT_ENST00000420682.2_Silent_p.F8F|MAPT_ENST00000415613.2_Silent_p.F8F|MAPT_ENST00000340799.5_Silent_p.F8F|MAPT_ENST00000334239.8_Silent_p.F8F|MAPT_ENST00000535772.1_Silent_p.F8F|MAPT_ENST00000262410.5_Silent_p.F8F|MAPT_ENST00000446361.3_Silent_p.F8F|MAPT_ENST00000351559.5_Silent_p.F8F|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000431008.3_Silent_p.F8F|MAPT_ENST00000574436.1_Silent_p.F8F|MAPT_ENST00000344290.5_Silent_p.F8F			P10636	TAU_HUMAN	microtubule-associated protein tau	8					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.F8F(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GCCAGGAGTTCGAAGTGATGG	0.582																																					p.F8F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C24T	17						.						45.0	40.0	42.0					17																	44039727		2203	4300	6503	41395563	SO:0001819	synonymous_variant	4137	exon2			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.24C>T	17.37:g.44039727C>T			41395563	NM_016834	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	CCDS11501.1																																																																																				0.582	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
CDC27	996	broad.mit.edu	37	17	45216112	45216112	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:45216112G>A	ENST00000066544.3	-	13	1790	c.1697C>T	c.(1696-1698)tCg>tTg	p.S566L	CDC27_ENST00000531206.1_Missense_Mutation_p.S572L|CDC27_ENST00000527547.1_Missense_Mutation_p.S565L|CDC27_ENST00000446365.2_Missense_Mutation_p.S505L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	566					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.S572L(1)|p.S566L(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						TACCTCTGGCGAATTTTTATC	0.358																																					p.S572L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1715T	17						.						50.0	55.0	53.0					17																	45216112		2202	4299	6501	42571111	SO:0001583	missense	996	exon13			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.1697C>T	17.37:g.45216112G>A	ENSP00000066544:p.Ser566Leu		42571111	NM_001114091	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682257	0.88542	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.058252	0.64402	D	0.000001	T	0.67382	0.2887	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.76494	0.998;0.997;0.999;0.996	P;P;P;P	0.61940	0.896;0.814;0.876;0.685	T	0.76055	-0.3099	10	0.87932	D	0	-9.281	17.1488	0.86773	0.0:0.0:1.0:0.0	.	505;565;572;566	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	L	566;572;505;565	ENSP00000066544:S566L;ENSP00000434614:S572L;ENSP00000392802:S505L;ENSP00000437339:S565L	ENSP00000066544:S566L	S	-	2	0	CDC27	42571111	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.133000	0.77259	2.650000	0.89964	0.650000	0.86243	TCG		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
ITGB3	3690	broad.mit.edu	37	17	45361953	45361953	+	Missense_Mutation	SNP	G	G	A	rs5917	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:45361953G>A	ENST00000559488.1	+	4	522	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ITGB3_ENST00000435993.2_Missense_Mutation_p.R122Q|ITGB3_ENST00000560629.1_Silent_p.A157A|ITGB3_ENST00000571680.1_Missense_Mutation_p.R169Q	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:1430225}.		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.R169Q(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)	ACCCAGATGCGAAAGCTCACC	0.532													G|||	13	0.00259585	0.0	0.0115	5008	,	,		17059	0.004		0.0	False		,,,				2504	0.001				p.R169Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	17						.	G	GLN/ARG	0,4406		0,0,2203	124.0	121.0	122.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	506	4.9	1.0	17	dbSNP_52	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ITGB3	NM_000212.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	169/789	45361953	2,13004	2203	4300	6503	42716952	SO:0001583	missense	3690	exon4				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.506G>A	17.37:g.45361953G>A	ENSP00000452786:p.Arg169Gln		42716952	NM_000212	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	8	0.003663003663003663	0	0.0	6	0.016574585635359115	2	0.0034965034965034965	0	0.0	G	13.41	2.228941	0.39399	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.92348	-3.02	5.86	4.89	0.63831	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.286751	0.44483	D	0.000455	T	0.77191	0.4094	N	0.17901	0.54	0.37985	D	0.933725	P;P	0.49358	0.923;0.551	B;B	0.42188	0.379;0.08	D	0.83827	0.0250	10	0.42905	T	0.14	.	12.9189	0.58220	0.0787:0.0:0.9213:0.0	rs5917;rs52822157;rs61156821;rs5917	169;169	P05106;Q2YFE1	ITB3_HUMAN;.	Q	169;122	ENSP00000407801:R122Q	ENSP00000262017:R169Q	R	+	2	0	C17orf57	42716952	0.998000	0.40836	0.991000	0.47740	0.150000	0.21749	2.422000	0.44696	1.482000	0.48325	0.655000	0.94253	CGA		0.532	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
EFCAB13	124989	broad.mit.edu	37	17	45438851	45438851	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:45438851A>G	ENST00000331493.2	+	10	1180	c.769A>G	c.(769-771)Att>Gtt	p.I257V	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	257						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.I257V(1)									AAACCGTGAAATTTTAGAAGA	0.333																																					p.I257V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A769G	17						.						161.0	159.0	160.0					17																	45438851		2203	4300	6503	42793850	SO:0001583	missense	124989	exon10			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.769A>G	17.37:g.45438851A>G	ENSP00000332111:p.Ile257Val		42793850	NM_152347	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	A	3.849	-0.032291	0.07543	.	.	ENSG00000178852	ENST00000331493;ENST00000344176	T	0.40756	1.02	3.78	3.78	0.43462	EF-hand-like domain (1);	0.795723	0.10704	N	0.643726	T	0.34135	0.0887	L	0.36672	1.1	0.26277	N	0.978333	B;B	0.15473	0.013;0.013	B;B	0.11329	0.006;0.006	T	0.24799	-1.0150	10	0.72032	D	0.01	-11.5194	9.0868	0.36586	1.0:0.0:0.0:0.0	.	209;257	Q8N7U2;Q8IY85	.;CQ057_HUMAN	V	257;209	ENSP00000332111:I257V	ENSP00000332111:I257V	I	+	1	0	C17orf57	42793850	0.031000	0.19500	0.009000	0.14445	0.027000	0.11550	1.991000	0.40727	1.696000	0.51158	0.482000	0.46254	ATT		0.333	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
KAT7	11143	broad.mit.edu	37	17	47875855	47875855	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:47875855G>A	ENST00000259021.4	+	4	795	c.515G>A	c.(514-516)cGc>cAc	p.R172H	KAT7_ENST00000509773.1_Intron|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.R172H|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000503935.2_Missense_Mutation_p.R16H|KAT7_ENST00000435742.2_Missense_Mutation_p.R16H	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	172					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.R172H(1)									CGCCCCAAGCGCCGTCGCTTC	0.502																																					p.R172H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	17						.						120.0	104.0	109.0					17																	47875855		2203	4300	6503	45230854	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.515G>A	17.37:g.47875855G>A	ENSP00000259021:p.Arg172His		45230854	NM_007067	B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665634	0.88251	.	.	ENSG00000136504	ENST00000259021;ENST00000424009;ENST00000506533;ENST00000503935;ENST00000435742	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.925;0.925;0.966	T	0.74586	-0.3616	9	0.51188	T	0.08	-14.468	20.2388	0.98366	0.0:0.0:1.0:0.0	.	165;172;172	B4DGY4;O95251;G5E9K7	.;KAT7_HUMAN;.	H	172;172;16;16;16	.	ENSP00000259021:R172H	R	+	2	0	KAT7	45230854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.841000	0.99482	2.890000	0.99128	0.650000	0.86243	CGC		0.502	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067	
TOB1	10140	broad.mit.edu	37	17	48940590	48940590	+	Missense_Mutation	SNP	T	T	G	rs575736346		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:48940590T>G	ENST00000268957.3	-	3	1217	c.789A>C	c.(787-789)aaA>aaC	p.K263N	TOB1_ENST00000499247.2_Missense_Mutation_p.K263N|TOB1_ENST00000509385.1_5'Flank	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	263					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.K263N(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAGCAGAGGTTTTctgctgtt	0.537																																					p.K263N	NSCLC(144;643 1919 24513 29423 40686)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A789C	17						.						49.0	47.0	48.0					17																	48940590		2203	4300	6503	46295589	SO:0001583	missense	10140	exon1			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.789A>C	17.37:g.48940590T>G	ENSP00000268957:p.Lys263Asn		46295589	NM_005749	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414415	0.25465	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.46063	0.88;0.88	6.06	4.96	0.65561	.	0.442853	0.18251	N	0.146950	T	0.31979	0.0814	L	0.51422	1.61	0.58432	D	0.999993	B	0.17852	0.024	B	0.10450	0.005	T	0.15867	-1.0422	10	0.18710	T	0.47	.	5.609	0.17394	0.0:0.2278:0.0:0.7722	.	263	P50616	TOB1_HUMAN	N	263	ENSP00000427695:K263N;ENSP00000268957:K263N	ENSP00000268957:K263N	K	-	3	2	TOB1	46295589	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.460000	0.45031	2.323000	0.78572	0.528000	0.53228	AAA		0.537	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1		
GP1BA	2811	broad.mit.edu	37	17	4836490	4836490	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:4836490G>A	ENST00000329125.5	+	2	666	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	197					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.E197E(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TCCTCCAAGAGAACTCGCTGT	0.527																																					p.E197E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G591A	17						.						60.0	59.0	59.0					17																	4836490		1886	4122	6008	4777270	SO:0001819	synonymous_variant	2811	exon2				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.591G>A	17.37:g.4836490G>A			4777270	NM_000173	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	CCDS54068.1																																																																																				0.527	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1		
SPAG9	9043	broad.mit.edu	37	17	49071214	49071214	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:49071214A>C	ENST00000262013.7	-	19	2517	c.2309T>G	c.(2308-2310)gTt>gGt	p.V770G	SPAG9_ENST00000510283.1_Missense_Mutation_p.V613G|SPAG9_ENST00000357122.4_Missense_Mutation_p.V756G|SPAG9_ENST00000505279.1_Missense_Mutation_p.V760G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	770					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.V756G(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATAATAAGAACTTTTGTAGC	0.418																																					p.V756G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2267G	17						.						113.0	98.0	103.0					17																	49071214		2203	4300	6503	46426213	SO:0001583	missense	9043	exon18			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2309T>G	17.37:g.49071214A>C	ENSP00000262013:p.Val770Gly		46426213	NM_003971	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.382207|4.382207	0.82792|0.82792	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000513906|ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	.|T;T;T;T	.|0.47528	.|0.84;0.84;0.84;0.85	5.93|5.93	5.93|5.93	0.95920|0.95920	.|WD40 repeat-like-containing domain (1);	.|0.115737	.|0.64402	.|D	.|0.000017	T|T	0.71710|0.71710	0.3372|0.3372	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D;D	.|0.67145	.|0.906;0.979;0.979;0.963;0.989;0.996	.|P;P;D;P;P;D	.|0.66847	.|0.713;0.897;0.947;0.852;0.869;0.929	T|T	0.76948|0.76948	-0.2770|-0.2770	5|10	.|0.87932	.|D	.|0	-17.3557|-17.3557	16.3766|16.3766	0.83401|0.83401	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|756;770;760;770;756;613	.|O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.|.;.;.;JIP4_HUMAN;.;.	V|G	29|770;527;517;307;613;760;756;368	.|ENSP00000262013:V770G;ENSP00000423165:V613G;ENSP00000426900:V760G;ENSP00000349636:V756G	.|ENSP00000262013:V770G	F|V	-|-	1|2	0|0	SPAG9|SPAG9	46426213|46426213	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.346000|4.346000	0.59367|0.59367	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.418	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
ZFP3	124961	broad.mit.edu	37	17	4995549	4995549	+	Missense_Mutation	SNP	G	G	T	rs369205257		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:4995549G>T	ENST00000318833.3	+	2	1086	c.750G>T	c.(748-750)gaG>gaT	p.E250D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	250					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.E250D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATACTGGAGAGAAACCATATG	0.383																																					p.E250D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G750T	17						.	G	ASP/GLU	1,4405	2.1+/-5.4	0,1,2202	64.0	65.0	65.0		750	2.0	1.0	17		65	0,8600		0,0,4300	no	missense	ZFP3	NM_153018.2	45	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	250/503	4995549	1,13005	2203	4300	6503	4936273	SO:0001583	missense	124961	exon2			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.750G>T	17.37:g.4995549G>T	ENSP00000320347:p.Glu250Asp		4936273	NM_153018	A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162951	0.57476	2.27E-4	0.0	ENSG00000180787	ENST00000318833	T	0.26810	1.71	3.93	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36972	N	0.002308	T	0.37544	0.1007	M	0.67397	2.05	0.35045	D	0.760062	P	0.45672	0.864	P	0.54346	0.749	T	0.50955	-0.8766	10	0.72032	D	0.01	-14.2886	8.2559	0.31756	0.2006:0.0:0.7994:0.0	.	250	Q96NJ6	ZFP3_HUMAN	D	250	ENSP00000320347:E250D	ENSP00000320347:E250D	E	+	3	2	ZFP3	4936273	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.208000	0.42797	0.640000	0.30582	-0.253000	0.11424	GAG		0.383	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018	
USP6	9098	broad.mit.edu	37	17	5051946	5051946	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:5051946A>G	ENST00000574788.1	+	30	4757	c.2527A>G	c.(2527-2529)Act>Gct	p.T843A	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.T526A|USP6_ENST00000250066.6_Missense_Mutation_p.T843A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	843	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.T843A(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						AATGCCAAACACTGTTGTGCC	0.438			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.T843A			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2527G	17						.						150.0	127.0	135.0					17																	5051946		2203	4300	6503	4992670	SO:0001583	missense	9098	exon22			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.2527A>G	17.37:g.5051946A>G	ENSP00000460380:p.Thr843Ala		4992670	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260811	0.23051	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14144	2.95;2.53	2.79	2.79	0.32731	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	L	0.40543	1.245	0.44852	D	0.997863	D;B	0.67145	0.996;0.327	D;B	0.76071	0.987;0.299	T	0.01249	-1.1406	10	0.32370	T	0.25	.	9.0444	0.36338	1.0:0.0:0.0:0.0	.	526;843	P35125-2;P35125	.;UBP6_HUMAN	A	843;526	ENSP00000250066:T843A;ENSP00000305473:T526A	ENSP00000250066:T843A	T	+	1	0	USP6	4992670	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.323000	0.90002	1.281000	0.44480	0.163000	0.16589	ACT		0.438	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
KIF2B	84643	broad.mit.edu	37	17	51901813	51901813	+	Missense_Mutation	SNP	G	G	T	rs139282377		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:51901813G>T	ENST00000268919.4	+	1	1575	c.1419G>T	c.(1417-1419)aaG>aaT	p.K473N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	473	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.K473N(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						AGATTAACAAGAGTCTTCTAG	0.507																																					p.K473N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1419T	17						.						48.0	44.0	45.0					17																	51901813		2203	4300	6503	49256812	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.1419G>T	17.37:g.51901813G>T	ENSP00000268919:p.Lys473Asn		49256812	NM_032559	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961346	0.53400	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.77620	-1.11	5.73	-0.141	0.13452	Kinesin, motor domain (4);	0.000000	0.46758	D	0.000269	D	0.85600	0.5734	M	0.86651	2.83	0.39734	D	0.971651	D	0.56287	0.975	P	0.61275	0.886	D	0.85703	0.1314	10	0.66056	D	0.02	.	10.3473	0.43913	0.5117:0.0:0.4883:0.0	.	473	Q8N4N8	KIF2B_HUMAN	N	473;361	ENSP00000268919:K473N	ENSP00000268919:K473N	K	+	3	2	KIF2B	49256812	0.998000	0.40836	0.997000	0.53966	0.941000	0.58515	0.352000	0.20113	0.058000	0.16222	-0.345000	0.07892	AAG		0.507	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
NUP88	4927	broad.mit.edu	37	17	5308516	5308516	+	Missense_Mutation	SNP	G	G	A	rs370008628		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:5308516G>A	ENST00000573584.1	-	6	1414	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	302					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)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.A302V(2)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ATCTTCAGCCGCAGGATGCAT	0.438																																					p.A302V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C905T	17						.	G	VAL/ALA	0,4406		0,0,2203	171.0	133.0	146.0		905	4.8	1.0	17		146	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUP88	NM_002532.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	302/742	5308516	1,13005	2203	4300	6503	5249240	SO:0001583	missense	4927	exon6			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.905C>T	17.37:g.5308516G>A	ENSP00000458954:p.Ala302Val		5249240	NM_002532	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145788	0.94603	0.0	1.16E-4	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.91635	0.936;0.874;0.999	T	0.75912	-0.3150	9	0.35671	T	0.21	-13.1062	17.4474	0.87581	0.0:0.0:1.0:0.0	.	302;171;302	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	V	302;171	.	ENSP00000225696:A302V	A	-	2	0	NUP88	5249240	1.000000	0.71417	0.968000	0.41197	0.952000	0.60782	9.497000	0.97970	2.677000	0.91161	0.655000	0.94253	GCG		0.438	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532	
STXBP4	252983	broad.mit.edu	37	17	53124456	53124456	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:53124456T>G	ENST00000376352.2	+	12	1159	c.952T>G	c.(952-954)Tta>Gta	p.L318V	STXBP4_ENST00000434978.2_Intron	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	318					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L318V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ATAGGAAAAATTATTGGAATC	0.323																																					p.L318V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T952G	17						.						71.0	80.0	77.0					17																	53124456		2203	4300	6503	50479455	SO:0001583	missense	252983	exon12			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.952T>G	17.37:g.53124456T>G	ENSP00000365530:p.Leu318Val		50479455	NM_178509	Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	T	15.84	2.950935	0.53186	.	.	ENSG00000166263	ENST00000376352	T	0.60920	0.15	4.8	-0.669	0.11388	.	0.000000	0.64402	D	0.000001	T	0.70701	0.3254	M	0.81239	2.535	0.33062	D	0.534177	D	0.89917	1.0	D	0.91635	0.999	T	0.74044	-0.3791	10	0.87932	D	0	-9.5534	7.6642	0.28421	0.0:0.4938:0.0:0.5061	.	318	Q6ZWJ1	STXB4_HUMAN	V	318	ENSP00000365530:L318V	ENSP00000365530:L318V	L	+	1	2	STXBP4	50479455	0.092000	0.21681	0.474000	0.27266	0.879000	0.50718	-0.087000	0.11215	-0.015000	0.14150	0.477000	0.44152	TTA		0.323	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
NLRP1	22861	broad.mit.edu	37	17	5461802	5461802	+	Silent	SNP	G	G	A	rs199601083		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:5461802G>A	ENST00000572272.1	-	4	2213	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	NLRP1_ENST00000269280.4_Silent_p.F738F|NLRP1_ENST00000345221.3_Silent_p.F738F|NLRP1_ENST00000262467.5_Silent_p.F738F|NLRP1_ENST00000577119.1_Silent_p.F738F|NLRP1_ENST00000354411.3_Silent_p.F738F|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	738					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.F738F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCATTTCTTCGAAATGGGCCA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21748	0.001		0.0	False		,,,				2504	0.0				p.F738F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2214T	17						.						83.0	84.0	84.0					17																	5461802		2203	4300	6503	5402526	SO:0001819	synonymous_variant	22861	exon4			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2214C>T	17.37:g.5461802G>A			5402526	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	CCDS42246.1																																																																																				0.512	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
NLRP1	22861	broad.mit.edu	37	17	5462129	5462129	+	Missense_Mutation	SNP	G	G	T	rs149035689	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:5462129G>T	ENST00000572272.1	-	4	1886	c.1887C>A	c.(1885-1887)ttC>ttA	p.F629L	NLRP1_ENST00000269280.4_Missense_Mutation_p.F629L|NLRP1_ENST00000345221.3_Missense_Mutation_p.F629L|NLRP1_ENST00000262467.5_Missense_Mutation_p.F629L|NLRP1_ENST00000577119.1_Missense_Mutation_p.F629L|NLRP1_ENST00000354411.3_Missense_Mutation_p.F629L|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	629	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.F629L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTGCTGCAAAGAACTCTTGGA	0.443													G|||	22	0.00439297	0.0	0.0	5008	,	,		23678	0.0		0.0	False		,,,				2504	0.0225				p.F629L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1887A	17						.	G	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	0,4406		0,0,2203	70.0	67.0	68.0		1887,1887,1887,1887,1887	3.3	1.0	17	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	22,22,22,22,22	0,4,6499	TT,TG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	629/1376,629/1430,629/1474,629/1444,629/1400	5462129	4,13002	2203	4300	6503	5402853	SO:0001583	missense	22861	exon4			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1887C>A	17.37:g.5462129G>T	ENSP00000460475:p.Phe629Leu		5402853	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092846	0.76756	0.0	4.65E-4	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	D;D;D;D;D	0.87256	-2.23;-2.23;-2.11;-2.08;-2.11	4.31	3.34	0.38264	NACHT nucleoside triphosphatase (1);	0.000000	0.40728	N	0.001038	D	0.92303	0.7558	M	0.85099	2.735	0.31181	N	0.702059	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.997	D	0.89301	0.3626	10	0.66056	D	0.02	.	7.4972	0.27496	0.1147:0.0:0.8853:0.0	.	629;629;629;629;629	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	L	629	ENSP00000442029:F629L;ENSP00000262467:F629L;ENSP00000269280:F629L;ENSP00000346390:F629L;ENSP00000324366:F629L	ENSP00000262467:F629L	F	-	3	2	NLRP1	5402853	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.667000	0.25112	2.438000	0.82558	0.650000	0.86243	TTC		0.443	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
MPO	4353	broad.mit.edu	37	17	56353037	56353037	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:56353037C>T	ENST00000225275.3	-	8	1407	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.E443K	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	411					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.E411K(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)	GAGGTGAGCTCGGGCATCTCA	0.577																																					p.E411K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1231A	17						.						99.0	77.0	84.0					17																	56353037		2203	4300	6503	53708036	SO:0001583	missense	4353	exon8				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.1231G>A	17.37:g.56353037C>T	ENSP00000225275:p.Glu411Lys		53708036	NM_000250	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434659	0.25813	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68331	-0.32;-0.32	4.5	4.5	0.54988	.	0.052888	0.64402	D	0.000001	T	0.54095	0.1837	L	0.28504	0.86	0.42072	D	0.991216	P	0.47677	0.899	B	0.43478	0.421	T	0.54662	-0.8260	10	0.06625	T	0.88	-16.8629	16.5452	0.84443	0.0:1.0:0.0:0.0	.	411	P05164	PERM_HUMAN	K	443;411	ENSP00000344419:E443K;ENSP00000225275:E411K	ENSP00000225275:E411K	E	-	1	0	MPO	53708036	0.999000	0.42202	0.957000	0.39632	0.900000	0.52787	7.749000	0.85096	2.217000	0.71921	0.462000	0.41574	GAG		0.577	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
PPM1E	22843	broad.mit.edu	37	17	57050201	57050201	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:57050201G>T	ENST00000308249.2	+	6	1254	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	98					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)	p.K375N(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AGGATGAAAAGCAGAGAATTG	0.388																																					p.K375N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1125T	17						.						202.0	191.0	195.0					17																	57050201		2203	4300	6503	54404983	SO:0001583	missense	22843	exon6			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1125G>T	17.37:g.57050201G>T	ENSP00000312411:p.Lys375Asn		54404983	NM_014906	Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389730	0.82902	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.19394	2.15	5.58	4.62	0.57501	.	0.089858	0.85682	D	0.000000	T	0.47581	0.1453	M	0.78637	2.42	0.54753	D	0.999989	D;D	0.76494	0.997;0.999	D;D	0.75484	0.963;0.986	T	0.53387	-0.8446	10	0.87932	D	0	-14.5582	14.4122	0.67121	0.071:0.0:0.929:0.0	.	384;375	Q8WY54-3;Q8WY54-2	.;.	N	375;226	ENSP00000312411:K375N	ENSP00000312411:K375N	K	+	3	2	PPM1E	54404983	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.752000	0.68728	1.353000	0.45828	0.563000	0.77884	AAG		0.388	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906	
TRIM37	4591	broad.mit.edu	37	17	57057918	57057918	+	IGR	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:57057918G>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.K598N	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K598N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTGCACCAAAGAAAGCAAATC	0.423									Mulibrey Nanism																												p.K598N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1794T	17						.						89.0	87.0	88.0					17																	57057918		2203	4300	6503	54412700	SO:0001628	intergenic_variant	22843	exon7	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057918G>T			54412700	NM_014906	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387043	0.61956	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.24538	1.85	5.58	5.58	0.84498	.	0.496191	0.23768	N	0.044747	T	0.37679	0.1012	L	0.27053	0.805	0.45852	D	0.998717	D;D	0.63046	0.99;0.992	P;P	0.59357	0.814;0.856	T	0.17992	-1.0351	10	0.87932	D	0	-13.8069	19.5533	0.95330	0.0:0.0:1.0:0.0	.	607;598	Q8WY54-3;Q8WY54-2	.;.	N	598;449	ENSP00000312411:K598N	ENSP00000312411:K598N	K	+	3	2	PPM1E	54412700	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.778000	0.75043	2.639000	0.89480	0.491000	0.48974	AAG		0.423	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294	
SMG8	55181	broad.mit.edu	37	17	57288143	57288143	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:57288143C>G	ENST00000543872.2	+	2	995	c.731C>G	c.(730-732)gCc>gGc	p.A244G	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.A244G|SMG8_ENST00000300917.5_Missense_Mutation_p.A244G|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	244					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.A244G(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTTAAAACAGCCATTAAGGAT	0.488																																					p.A244G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C731G	17						.						69.0	77.0	74.0					17																	57288143		2203	4300	6503	54642925	SO:0001583	missense	55181	exon1			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.731C>G	17.37:g.57288143C>G	ENSP00000438748:p.Ala244Gly		54642925	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804006	0.50315	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.46063	0.88;0.88	5.99	5.99	0.97316	.	0.092240	0.85682	D	0.000000	T	0.40932	0.1137	L	0.44542	1.39	0.50171	D	0.99985	P	0.47253	0.892	B	0.43018	0.405	T	0.33343	-0.9872	10	0.72032	D	0.01	-11.7805	15.0003	0.71466	0.0:0.8583:0.1417:0.0	.	244	Q8ND04	SMG8_HUMAN	G	244	ENSP00000300917:A244G;ENSP00000438748:A244G	ENSP00000300917:A244G	A	+	2	0	SMG8	54642925	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.696000	0.68287	2.840000	0.97914	0.655000	0.94253	GCC		0.488	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
SMG8	55181	broad.mit.edu	37	17	57288341	57288341	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:57288341G>T	ENST00000543872.2	+	2	1193	c.929G>T	c.(928-930)aGa>aTa	p.R310I	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R310I|SMG8_ENST00000300917.5_Missense_Mutation_p.R310I|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	310					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R310I(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CAGATCTATAGAATCTTCCGG	0.512																																					p.R310I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929T	17						.						66.0	65.0	65.0					17																	57288341		2203	4300	6503	54643123	SO:0001583	missense	55181	exon1			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.929G>T	17.37:g.57288341G>T	ENSP00000438748:p.Arg310Ile		54643123	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490954	0.64074	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.45276	0.9;0.9	5.88	5.88	0.94601	.	0.133149	0.64402	D	0.000003	T	0.58581	0.2132	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.61658	0.892	T	0.56171	-0.8023	10	0.56958	D	0.05	-19.5567	19.2147	0.93772	0.0:0.0:1.0:0.0	.	310	Q8ND04	SMG8_HUMAN	I	310	ENSP00000300917:R310I;ENSP00000438748:R310I	ENSP00000300917:R310I	R	+	2	0	SMG8	54643123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.592000	0.82676	2.769000	0.95229	0.655000	0.94253	AGA		0.512	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
USP32	84669	broad.mit.edu	37	17	58260756	58260756	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:58260756A>C	ENST00000300896.4	-	31	4087	c.3893T>G	c.(3892-3894)aTt>aGt	p.I1298S	USP32_ENST00000592339.1_Missense_Mutation_p.I968S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1298	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.I1298S(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)			AAATTTGACAATTTTCTGTGA	0.418																																					p.I1298S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3893G	17						.						67.0	72.0	70.0					17																	58260756		2203	4300	6503	55615538	SO:0001583	missense	84669	exon31			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.3893T>G	17.37:g.58260756A>C	ENSP00000300896:p.Ile1298Ser		55615538	NM_032582	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601683	0.87055	.	.	ENSG00000170832	ENST00000300896	T	0.27890	1.64	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	L	0.43152	1.355	0.80722	D	1	D	0.57257	0.979	P	0.52343	0.696	T	0.15838	-1.0423	10	0.52906	T	0.07	.	16.1069	0.81230	1.0:0.0:0.0:0.0	.	1298	Q8NFA0	UBP32_HUMAN	S	1298	ENSP00000300896:I1298S	ENSP00000300896:I1298S	I	-	2	0	USP32	55615538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.803000	0.91915	2.198000	0.70561	0.528000	0.53228	ATT		0.418	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
DCAF7	10238	broad.mit.edu	37	17	61655832	61655832	+	Splice_Site	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:61655832T>C	ENST00000310827.4	+	2	357	c.140T>C	c.(139-141)gTt>gCt	p.V47A	DCAF7_ENST00000431926.1_Splice_Site_p.V47A|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	47					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.V47A(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ATGTTACAGGTTCAGCTTGTT	0.418																																					p.V47A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T140C	17						.						148.0	146.0	147.0					17																	61655832		1942	4155	6097	59009564	SO:0001630	splice_region_variant	10238	exon2			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.139-1T>C	17.37:g.61655832T>C			59009564	NM_005828	B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37		.	.	.	.	.	.	.	.	.	.	T	26.4	4.732582	0.89482	.	.	ENSG00000136485	ENST00000310827;ENST00000431926	T;T	0.70045	-0.45;-0.45	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.92367	3.3	0.80722	D	1	D	0.53885	0.963	P	0.56127	0.792	D	0.87677	0.2545	10	0.87932	D	0	-16.2529	15.8433	0.78868	0.0:0.0:0.0:1.0	.	47	P61962	DCAF7_HUMAN	A	47	ENSP00000308344:V47A;ENSP00000402312:V47A	ENSP00000308344:V47A	V	+	2	0	DCAF7	59009564	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.040000	0.89188	2.154000	0.67381	0.524000	0.50904	GTT		0.418	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828	Missense_Mutation
DDX42	11325	broad.mit.edu	37	17	61886998	61886998	+	Nonsense_Mutation	SNP	C	C	T	rs200692919		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:61886998C>T	ENST00000578681.1	+	12	1832	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	DDX42_ENST00000359353.5_Nonsense_Mutation_p.R292*|DDX42_ENST00000389924.2_Nonsense_Mutation_p.R411*|DDX42_ENST00000457800.2_Nonsense_Mutation_p.R411*|DDX42_ENST00000583590.1_Nonsense_Mutation_p.R411*	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	411	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R411*(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						TGAAGCAGATCGAATGTTTGA	0.368																																					p.R411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1231T	17						.						236.0	208.0	217.0					17																	61886998		2203	4300	6503	59240730	SO:0001587	stop_gained	11325	exon11			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.1231C>T	17.37:g.61886998C>T	ENSP00000464050:p.Arg411*		59240730	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Nonsense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	38	7.195534	0.98129	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	.	.	.	5.65	3.53	0.40419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7788	13.7118	0.62672	0.3953:0.6047:0.0:0.0	.	.	.	.	X	411;411;147	.	ENSP00000352308:R147X	R	+	1	2	DDX42	59240730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.353000	0.52247	1.339000	0.45563	0.563000	0.77884	CGA		0.368	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
PSMC5	5705	broad.mit.edu	37	17	61902489	61902489	+	5'Flank	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:61902489G>T	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.F210L|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						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 programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.F210L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGGGGTCAAAGAATTTACTGT	0.428																																					p.F210L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C630A	17						.						79.0	83.0	82.0					17																	61902489		2203	4300	6503	59256221	SO:0001631	upstream_gene_variant	117246	exon8			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902489G>T	Exception_encountered		59256221	NM_017647	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419466	0.25552	.	.	ENSG00000108592	ENST00000427159	T	0.39592	1.07	5.04	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.25901	0.0631	N	0.17901	0.54	0.41463	D	0.988053	B	0.29432	0.244	B	0.37198	0.243	T	0.04065	-1.0980	10	0.08837	T	0.75	-13.7967	8.4788	0.33030	0.2544:0.0:0.7456:0.0	.	210	Q8IY81	RRMJ3_HUMAN	L	210	ENSP00000396673:F210L	ENSP00000396673:F210L	F	-	3	2	FTSJ3	59256221	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	0.614000	0.24314	0.322000	0.23283	-0.219000	0.12488	TTC		0.428	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
GH1	2688	broad.mit.edu	37	17	61995750	61995750	+	Missense_Mutation	SNP	C	C	T	rs140787052		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:61995750C>T	ENST00000323322.5	-	2	169	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	GH1_ENST00000351388.4_Missense_Mutation_p.A43T|GH1_ENST00000458650.2_Missense_Mutation_p.A43T|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.A43T	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	43					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.A43T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						AGACGATGGGCGCGGAGCATA	0.587																																					p.A43T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	17						.	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,	0,4406		0,0,2203	163.0	170.0	168.0		127,127,127,127,	2.9	1.0	17	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,intron	GH1	NM_000515.3,NM_022559.2,NM_022560.2,NM_022561.2,NM_022562.2	58,58,58,58,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	43/218,43/203,43/178,43/123,	61995750	1,13005	2203	4300	6503	59349482	SO:0001583	missense	2688	exon2			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.127G>A	17.37:g.61995750C>T	ENSP00000312673:p.Ala43Thr		59349482	NM_022560	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	16.76	3.211959	0.58452	0.0	1.16E-4	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.93307	-3.2;-2.84;-3.2;-3.2	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.118143	0.64402	D	0.000020	D	0.96907	0.8990	M	0.93939	3.475	0.25871	N	0.983703	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.972;0.995;1.0;1.0	D	0.90653	0.4584	10	0.87932	D	0	.	9.3531	0.38151	0.0:1.0:0.0:0.0	.	43;43;43;43;43	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	T	43	ENSP00000312673:A43T;ENSP00000408486:A43T;ENSP00000343791:A43T;ENSP00000339278:A43T	ENSP00000312673:A43T	A	-	1	0	GH1	59349482	0.985000	0.35326	0.999000	0.59377	0.598000	0.36846	2.748000	0.47483	1.594000	0.50039	0.298000	0.19748	GCC		0.587	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515	
SCN4A	6329	broad.mit.edu	37	17	62022957	62022957	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:62022957C>A	ENST00000435607.1	-	19	3559	c.3483G>T	c.(3481-3483)atG>atT	p.M1161I	SCN4A_ENST00000578147.1_Missense_Mutation_p.M1161I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1161					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M1161I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAGCACATTCATGATGGAGG	0.582																																					p.M1161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3483T	17						.						173.0	174.0	174.0					17																	62022957		2202	4300	6502	59376689	SO:0001583	missense	6329	exon19			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3483G>T	17.37:g.62022957C>A	ENSP00000396320:p.Met1161Ile		59376689	NM_000334	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	c	17.47	3.398430	0.62177	.	.	ENSG00000007314	ENST00000435607	D	0.98313	-4.86	3.9	3.9	0.45041	Ion transport (1);	0.087528	0.85682	D	0.000000	D	0.96642	0.8904	L	0.55103	1.725	0.31123	N	0.708629	B	0.22003	0.063	B	0.22152	0.038	D	0.96766	0.9565	10	0.72032	D	0.01	.	15.4374	0.75157	0.0:1.0:0.0:0.0	.	1161	P35499	SCN4A_HUMAN	I	1161	ENSP00000396320:M1161I	ENSP00000396320:M1161I	M	-	3	0	SCN4A	59376689	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.682000	0.54656	2.193000	0.70182	0.556000	0.70494	ATG		0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
CEP95	90799	broad.mit.edu	37	17	62528035	62528035	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:62528035C>T	ENST00000556440.2	+	14	2077	c.1567C>T	c.(1567-1569)Cgt>Tgt	p.R523C	CEP95_ENST00000553412.1_Missense_Mutation_p.R359C|AC009994.2_ENST00000579926.1_RNA|CEP95_ENST00000577476.1_3'UTR	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	523						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.R523C(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAAGCTGTTCGTAAAGGAAC	0.363																																					p.R523C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1567T	17						.						49.0	45.0	46.0					17																	62528035		1813	4080	5893	59958497	SO:0001583	missense	90799	exon14			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.1567C>T	17.37:g.62528035C>T	ENSP00000450461:p.Arg523Cys		59958497	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	c	4.165	0.029042	0.08054	.	.	ENSG00000258890	ENST00000556440;ENST00000553412	T;T	0.30448	1.54;1.53	5.87	0.414	0.16406	.	0.820841	0.11437	N	0.564153	T	0.10423	0.0255	N	0.03608	-0.345	0.09310	N	1	P	0.45078	0.85	B	0.36885	0.235	T	0.12553	-1.0543	10	0.38643	T	0.18	0.0101	4.3562	0.11179	0.0:0.3761:0.3064:0.3176	.	523	Q96GE4	CEP95_HUMAN	C	523;359	ENSP00000450461:R523C;ENSP00000450906:R359C	ENSP00000440121:R359C	R	+	1	0	CEP95	59958497	1.000000	0.71417	0.024000	0.17045	0.002000	0.02628	1.725000	0.38074	0.102000	0.17638	-0.808000	0.03180	CGT		0.363	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
RGS9	8787	broad.mit.edu	37	17	63204065	63204065	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:63204065C>A	ENST00000262406.9	+	16	1296	c.1229C>A	c.(1228-1230)tCt>tAt	p.S410Y	RGS9_ENST00000449996.3_Missense_Mutation_p.S407Y|RGS9_ENST00000443584.3_Missense_Mutation_p.S407Y	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	410	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.S410Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TATTTAAAATCTCCGATCTAT	0.398																																					p.S410Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1229A	17						.						111.0	95.0	100.0					17																	63204065		1834	4084	5918	60634527	SO:0001583	missense	8787	exon16			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1229C>A	17.37:g.63204065C>A	ENSP00000262406:p.Ser410Tyr		60634527	NM_003835	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694561	0.48202	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.53423	0.62;0.62	5.34	5.34	0.76211	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	H	0.96662	3.86	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	0.87105	0.2181	10	0.87932	D	0	.	19.412	0.94677	0.0:1.0:0.0:0.0	.	410;410;407	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	Y	410;407	ENSP00000262406:S410Y;ENSP00000396329:S407Y	ENSP00000262406:S410Y	S	+	2	0	RGS9	60634527	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.618000	0.83043	2.646000	0.89796	0.655000	0.94253	TCT		0.398	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
NOL11	25926	broad.mit.edu	37	17	65733770	65733770	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:65733770T>G	ENST00000253247.4	+	12	1480	c.1365T>G	c.(1363-1365)tgT>tgG	p.C455W	NOL11_ENST00000535137.1_Missense_Mutation_p.C273W	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	455					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.C455W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCCGGAACTGTCTGATGCAGC	0.428																																					p.C455W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1365G	17						.						144.0	129.0	134.0					17																	65733770		2203	4300	6503	63164232	SO:0001583	missense	25926	exon12			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1365T>G	17.37:g.65733770T>G	ENSP00000253247:p.Cys455Trp		63164232	NM_015462	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	4.299	0.054754	0.08291	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.44083	0.93	4.87	4.87	0.63330	.	1.047520	0.07348	N	0.881885	T	0.35682	0.0940	L	0.44542	1.39	0.48830	D	0.99971	P	0.52463	0.953	B	0.40101	0.319	T	0.32981	-0.9886	10	0.62326	D	0.03	-1.9099	6.4717	0.22011	0.0:0.1796:0.0:0.8204	.	455	Q9H8H0	NOL11_HUMAN	W	455;273	ENSP00000253247:C455W	ENSP00000253247:C455W	C	+	3	2	NOL11	63164232	0.033000	0.19621	0.996000	0.52242	0.188000	0.23474	0.157000	0.16402	1.930000	0.55929	0.533000	0.62120	TGT		0.428	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462	
BPTF	2186	broad.mit.edu	37	17	65916139	65916139	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:65916139G>A	ENST00000321892.4	+	15	5876	c.5815G>A	c.(5815-5817)Gaa>Aaa	p.E1939K	BPTF_ENST00000335221.5_Missense_Mutation_p.E1939K|BPTF_ENST00000306378.6_Missense_Mutation_p.E1813K|BPTF_ENST00000424123.3_Missense_Mutation_p.E1800K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1939					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAACATCCGAAACTGAAAT	0.343																																					p.E1813K												.	.	0			c.G5437A	17						.						111.0	114.0	113.0					17																	65916139		2203	4300	6503	63346601	SO:0001583	missense	2186	exon13			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5815G>A	17.37:g.65916139G>A	ENSP00000315454:p.Glu1939Lys		63346601	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.448874	0.84101	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.13307	2.6;2.6;2.6	5.65	5.65	0.86999	.	.	.	.	.	T	0.36496	0.0969	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.66084	0.941;0.555	T	0.02789	-1.1110	9	0.72032	D	0.01	-19.2322	19.7228	0.96150	0.0:0.0:1.0:0.0	.	1813;1939	Q12830-2;Q12830-4	.;.	K	1813;1939;1939	ENSP00000307208:E1813K;ENSP00000334351:E1939K;ENSP00000315454:E1939K	ENSP00000307208:E1813K	E	+	1	0	BPTF	63346601	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	9.860000	0.99555	2.667000	0.90743	0.655000	0.94253	GAA		0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA8	10351	broad.mit.edu	37	17	66880487	66880487	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:66880487A>G	ENST00000269080.2	-	26	3617	c.3480T>C	c.(3478-3480)ttT>ttC	p.F1160F	ABCA8_ENST00000586539.1_Silent_p.F1200F|ABCA8_ENST00000430352.2_Silent_p.F1200F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1160					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.F1160F(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)					GGAATACCAGAAATGGCTGTA	0.308																																					p.F1160F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3480C	17						.						51.0	58.0	56.0					17																	66880487		2200	4298	6498	64392082	SO:0001819	synonymous_variant	10351	exon26			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.3480T>C	17.37:g.66880487A>G			64392082	NM_007168	A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	CCDS11680.1																																																																																				0.308	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
KIAA0753	9851	broad.mit.edu	37	17	6526372	6526372	+	Missense_Mutation	SNP	G	G	A	rs199499810		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:6526372G>A	ENST00000361413.3	-	6	1292	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R13W|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R13W	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	312						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R312W(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGTAAGGCCCGAATGGCTCCT	0.488													G|||	0	0.0	0.0	0.0	5008	,	,		17516	0.0		0.0	False		,,,				2504	0.0				p.R312W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C934T	17						.						39.0	39.0	39.0					17																	6526372		1910	4109	6019	6467096	SO:0001583	missense	9851	exon6				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.934C>T	17.37:g.6526372G>A	ENSP00000355250:p.Arg312Trp		6467096	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	26.4	4.734461	0.89482	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	T;T	0.11169	2.8;2.8	5.7	5.7	0.88788	.	0.179664	0.47852	D	0.000209	T	0.28167	0.0695	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01386	-1.1368	10	0.87932	D	0	-7.4425	17.7581	0.88456	0.0:0.0:1.0:0.0	.	312	Q2KHM9	K0753_HUMAN	W	312;13	ENSP00000355250:R312W;ENSP00000444634:R13W	ENSP00000355250:R312W	R	-	1	2	KIAA0753	6467096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.796000	0.55507	2.878000	0.98634	0.650000	0.86243	CGG		0.488	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA9	10350	broad.mit.edu	37	17	66987015	66987015	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:66987015C>T	ENST00000340001.4	-	29	4011	c.3800G>A	c.(3799-3801)aGa>aAa	p.R1267K	ABCA9_ENST00000453985.2_Missense_Mutation_p.R1229K|ABCA9_ENST00000370732.2_Missense_Mutation_p.R1267K|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1267					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1267K(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)					ATTCACTGTTCTCATTCTTTC	0.388																																					p.R1267K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3800A	17						.						204.0	172.0	183.0					17																	66987015		2203	4300	6503	64498610	SO:0001583	missense	10350	exon29			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.3800G>A	17.37:g.66987015C>T	ENSP00000342216:p.Arg1267Lys		64498610	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363188	0.24684	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88896	-2.28;-2.44	5.4	4.43	0.53597	.	0.128183	0.34750	N	0.003707	D	0.85712	0.5760	L	0.53780	1.695	0.27761	N	0.943823	B;B	0.27286	0.174;0.025	B;B	0.33254	0.16;0.053	T	0.76438	-0.2959	10	0.30854	T	0.27	.	9.3295	0.38012	0.0:0.7734:0.146:0.0806	.	1267;1267	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	1267;1212;1267	ENSP00000342216:R1267K;ENSP00000359767:R1267K	ENSP00000342216:R1267K	R	-	2	0	ABCA9	64498610	0.947000	0.32204	0.835000	0.33067	0.178000	0.23041	0.250000	0.18235	1.291000	0.44653	0.655000	0.94253	AGA		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
TEKT1	83659	broad.mit.edu	37	17	6704232	6704232	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:6704232T>G	ENST00000338694.2	-	7	1012	c.883A>C	c.(883-885)Aat>Cat	p.N295H	TEKT1_ENST00000535086.1_Missense_Mutation_p.N149H	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	295						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.N295H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GCTGTAATATTTTTCTCCTGG	0.512																																					p.N295H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A883C	17						.						118.0	121.0	120.0					17																	6704232		2203	4300	6503	6644956	SO:0001583	missense	83659	exon7				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.883A>C	17.37:g.6704232T>G	ENSP00000341346:p.Asn295His		6644956	NM_053285	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428077	0.83667	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02787	4.16;4.16	5.85	5.85	0.93711	.	0.091207	0.64402	D	0.000001	T	0.10551	0.0258	M	0.73319	2.225	0.53688	D	0.999978	P	0.47677	0.899	P	0.54431	0.752	T	0.01114	-1.1447	10	0.42905	T	0.14	.	14.4944	0.67674	0.0:0.0:0.0:1.0	.	295	Q969V4	TEKT1_HUMAN	H	295;149	ENSP00000341346:N295H;ENSP00000444142:N149H	ENSP00000341346:N295H	N	-	1	0	TEKT1	6644956	1.000000	0.71417	0.967000	0.41034	0.935000	0.57460	5.675000	0.68123	2.371000	0.80710	0.533000	0.62120	AAT		0.512	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
GPS2	2874	broad.mit.edu	37	17	7217623	7217623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:7217623G>A	ENST00000380728.2	-	4	604	c.304C>T	c.(304-306)Cga>Tga	p.R102*	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Nonsense_Mutation_p.R102*|NEURL4_ENST00000574120.1_5'Flank|GPS2_ENST00000391950.3_Nonsense_Mutation_p.R102*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	102					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.R102*(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)				TGTTCCTTTCGCCTCCGTTTT	0.453																																					p.R102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C304T	17						.						157.0	152.0	154.0					17																	7217623		2203	4300	6503	7158347	SO:0001587	stop_gained	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.304C>T	17.37:g.7217623G>A	ENSP00000370104:p.Arg102*		7158347	NM_004489	B4DXA1|Q6FHM8	Nonsense_Mutation	SNP	ENST00000380728.2	37	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	37	6.142223	0.97320	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.69	3.7	0.42460	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4307	0.50038	0.0:0.0:0.8189:0.1811	.	.	.	.	X	102	.	ENSP00000319371:R102X	R	-	1	2	GPS2	7158347	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	4.711000	0.61881	1.185000	0.42971	-0.282000	0.10007	CGA		0.453	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	
ABCA10	10349	broad.mit.edu	37	17	67183946	67183946	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:67183946G>T	ENST00000269081.4	-	20	3115	c.2206C>A	c.(2206-2208)Ctt>Att	p.L736I	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	736					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L736I(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)					AGAGAACAAAGAACCTGTTCC	0.383																																					p.L736I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2206A	17						.						173.0	162.0	166.0					17																	67183946		2203	4300	6503	64695541	SO:0001583	missense	10349	exon20			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.2206C>A	17.37:g.67183946G>T	ENSP00000269081:p.Leu736Ile		64695541	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104852	0.37145	.	.	ENSG00000154263	ENST00000269081	T	0.78595	-1.19	2.76	-1.03	0.10102	.	.	.	.	.	T	0.70343	0.3213	M	0.83603	2.65	0.09310	N	1	B;P	0.39022	0.439;0.655	B;B	0.35859	0.097;0.212	T	0.58847	-0.7564	9	0.32370	T	0.25	.	0.5859	0.00720	0.2199:0.1523:0.3196:0.3083	.	736;736	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	I	736	ENSP00000269081:L736I	ENSP00000269081:L736I	L	-	1	0	ABCA10	64695541	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-1.186000	0.03070	-0.484000	0.06763	0.411000	0.27672	CTT		0.383	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ST6GALNAC2	10610	broad.mit.edu	37	17	74574851	74574851	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:74574851G>A	ENST00000225276.5	-	2	492	c.173C>T	c.(172-174)tCt>tTt	p.S58F	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	58					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)	p.S58F(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCTGTCCAAGAATTCGATGC	0.493																																					p.S58F												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C173T	17						.						165.0	139.0	148.0					17																	74574851		2203	4300	6503	72086446	SO:0001583	missense	10610	exon2			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.173C>T	17.37:g.74574851G>A	ENSP00000225276:p.Ser58Phe		72086446	NM_006456	Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011432	0.19277	.	.	ENSG00000070731	ENST00000225276	T	0.33216	1.42	4.31	2.23	0.28157	.	0.762517	0.11741	N	0.534072	T	0.25382	0.0617	L	0.48642	1.525	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24119	-1.0169	10	0.54805	T	0.06	-0.9307	6.1582	0.20350	0.2579:0.0:0.7421:0.0	.	58	Q9UJ37	SIA7B_HUMAN	F	58	ENSP00000225276:S58F	ENSP00000225276:S58F	S	-	2	0	ST6GALNAC2	72086446	0.001000	0.12720	0.000000	0.03702	0.136000	0.21042	0.744000	0.26245	0.348000	0.23949	0.561000	0.74099	TCT		0.493	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456	
FXR2	9513	broad.mit.edu	37	17	7496783	7496783	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:7496783C>T	ENST00000250113.7	-	12	1602	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	423						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.R423Q(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCCATAGGTTCGAGTCGCATG	0.647																																					p.R423Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268A	17						.						21.0	24.0	23.0					17																	7496783		2087	4197	6284	7437508	SO:0001583	missense	9513	exon12			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.1268G>A	17.37:g.7496783C>T	ENSP00000250113:p.Arg423Gln		7437508	NM_004860	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.794949	0.96952	.	.	ENSG00000129245	ENST00000250113	T	0.56275	0.47	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	M	0.62723	1.935	0.58432	D	0.999999	D	0.69078	0.997	D	0.70227	0.968	T	0.62020	-0.6942	10	0.23891	T	0.37	-2.7089	16.162	0.81727	0.0:1.0:0.0:0.0	.	423	P51116	FXR2_HUMAN	Q	423	ENSP00000250113:R423Q	ENSP00000250113:R423Q	R	-	2	0	FXR2	7437508	0.994000	0.37717	0.979000	0.43373	0.974000	0.67602	5.559000	0.67326	2.683000	0.91414	0.313000	0.20887	CGA		0.647	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
SHBG	6462	broad.mit.edu	37	17	7535297	7535297	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:7535297G>T	ENST00000380450.4	+	6	847	c.816G>T	c.(814-816)gaG>gaT	p.E272D	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Missense_Mutation_p.E160D|SHBG_ENST00000575903.1_Missense_Mutation_p.E254D|SHBG_ENST00000572262.1_Missense_Mutation_p.E160D|SHBG_ENST00000340624.5_Missense_Mutation_p.E214D|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.E214D|SHBG_ENST00000574539.1_Missense_Mutation_p.E214D|SHBG_ENST00000416273.3_Missense_Mutation_p.E272D|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	272	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)|p.E272D(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	GGACACCAGAGAACCCATCTT	0.582																																					p.E272D												.	.	3	Substitution - Missense(1)|Unknown(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|bone(1)	c.G816T	17						.						132.0	137.0	135.0					17																	7535297		2203	4300	6503	7476022	SO:0001583	missense	6462	exon6				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.816G>T	17.37:g.7535297G>T	ENSP00000369816:p.Glu272Asp		7476022	NM_001040	B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Missense_Mutation	SNP	ENST00000380450.4	37	CCDS11117.1	.	.	.	.	.	.	.	.	.	.	G	8.809	0.934832	0.18206	.	.	ENSG00000129214	ENST00000340624;ENST00000416273;ENST00000441313;ENST00000380450	D;D;T	0.87966	-2.32;-2.1;-1.11	4.62	-0.463	0.12164	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.556821	0.17944	N	0.156745	T	0.78666	0.4319	M	0.65975	2.015	0.09310	N	1	P;P;P;P;P;P	0.45827	0.867;0.729;0.665;0.61;0.791;0.61	B;B;B;B;B;B	0.38264	0.21;0.269;0.119;0.104;0.212;0.073	T	0.67772	-0.5584	10	0.15952	T	0.53	-7.1549	4.0269	0.09692	0.3301:0.4235:0.2464:0.0	.	272;267;218;191;272;214	F5H5Z8;P04278-2;E9PH59;B0FWH5;P04278;B4DYU0	.;.;.;.;SHBG_HUMAN;.	D	214;272;218;272	ENSP00000345675:E214D;ENSP00000388867:E272D;ENSP00000369816:E272D	ENSP00000345675:E214D	E	+	3	2	SHBG	7476022	0.000000	0.05858	0.037000	0.18230	0.334000	0.28698	-0.120000	0.10660	0.069000	0.16605	0.563000	0.77884	GAG		0.582	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040	
TNRC6C	57690	broad.mit.edu	37	17	76089174	76089174	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:76089174C>A	ENST00000588061.1	+	17	4858	c.4131C>A	c.(4129-4131)atC>atA	p.I1377I	TNRC6C_ENST00000301624.4_Silent_p.I1377I|TNRC6C_ENST00000335749.4_Silent_p.I1374I|TNRC6C_ENST00000541771.1_Silent_p.I1377I|TNRC6C_ENST00000588847.1_Silent_p.I1374I|TNRC6C_ENST00000544502.1_Silent_p.I1374I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1377	Required for interaction with PABPC1.|Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I1377I(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)			GTGATAAAATCTCAAATGGCT	0.512																																					p.I1377I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4131A	17						.						63.0	60.0	61.0					17																	76089174		2004	4188	6192	73600769	SO:0001819	synonymous_variant	57690	exon16			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.4131C>A	17.37:g.76089174C>A			73600769	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	CCDS45798.1																																																																																				0.512	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
RPTOR	57521	broad.mit.edu	37	17	78704377	78704377	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:78704377C>T	ENST00000306801.3	+	5	887	c.525C>T	c.(523-525)atC>atT	p.I175I	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Silent_p.I175I|RPTOR_ENST00000570891.1_Silent_p.I175I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	175					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|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.I175I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCAGTACATCCCTCTGTCCA	0.512																																					p.I175I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	17						.						161.0	110.0	127.0					17																	78704377		2203	4300	6503	76318972	SO:0001819	synonymous_variant	57521	exon5				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.525C>T	17.37:g.78704377C>T			76318972	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	CCDS11773.1																																																																																				0.512	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
KRBA2	124751	broad.mit.edu	37	17	8274700	8274700	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:8274700A>C	ENST00000331336.2	-	1	158	c.153T>G	c.(151-153)aaT>aaG	p.N51K	RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Intron	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	51	KRAB.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CTTCTAAATAATTCCAATCTT	0.443																																					p.N51K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T153G	17						.						125.0	128.0	127.0					17																	8274700		2203	4300	6503	8215425	SO:0001583	missense	124751	exon1			BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.153T>G	17.37:g.8274700A>C	ENSP00000328017:p.Asn51Lys		8215425	NM_213597	Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	A	0.120	-1.126787	0.01770	.	.	ENSG00000184619	ENST00000331336	T	0.01516	4.81	2.26	-2.85	0.05734	Krueppel-associated box (3);	.	.	.	.	T	0.00524	0.0017	N	0.00465	-1.465	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45366	-0.9266	9	0.30854	T	0.27	.	0.9757	0.01425	0.4088:0.2672:0.1824:0.1417	.	51	Q6ZNG9	KRBA2_HUMAN	K	51	ENSP00000328017:N51K	ENSP00000328017:N51K	N	-	3	2	KRBA2	8215425	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.504000	0.00964	-0.684000	0.05183	-0.396000	0.06452	AAT		0.443	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597	
NDEL1	81565	broad.mit.edu	37	17	8363382	8363382	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:8363382G>A	ENST00000334527.7	+	8	1045	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NDEL1_ENST00000299734.7_Missense_Mutation_p.R283Q|NDEL1_ENST00000402554.3_Missense_Mutation_p.R283Q|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	283	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						CAAGCATCACGAAAATCCTAT	0.408																																					p.R283Q												.	.	0			c.G848A	17						.						142.0	134.0	137.0					17																	8363382		2203	4300	6503	8304107	SO:0001583	missense	81565	exon8			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.848G>A	17.37:g.8363382G>A	ENSP00000333982:p.Arg283Gln		8304107	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	33	5.251801	0.95336	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.0	5.0	0.66597	NUDE protein, C-terminal (1);	0.051735	0.85682	D	0.000000	T	0.61261	0.2333	L	0.53249	1.67	0.80722	D	1	P;P	0.47484	0.841;0.896	B;P	0.46389	0.366;0.515	T	0.62053	-0.6935	9	0.42905	T	0.14	-2.6334	18.8403	0.92182	0.0:0.0:1.0:0.0	.	283;283	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	Q	283;283;338;283	.	ENSP00000299734:R283Q	R	+	2	0	NDEL1	8304107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.719000	0.91436	2.761000	0.94854	0.491000	0.48974	CGA		0.408	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
NDEL1	81565	broad.mit.edu	37	17	8366645	8366645	+	Intron	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:8366645A>C	ENST00000334527.7	+	8	1141				NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.K318Q|NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1						activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.K318Q(1)		large_intestine(6)|lung(4)|skin(3)	13						TAGGCAAGAAAAAGTCATATT	0.378																																					p.K318Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A952C	17						.						288.0	264.0	272.0					17																	8366645		2202	4298	6500	8307370	SO:0001627	intron_variant	81565	exon9			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.944+3167A>C	17.37:g.8366645A>C			8307370	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168693	0.57584	.	.	ENSG00000166579	ENST00000380025	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	T	0.52041	0.1710	L	0.36672	1.1	0.80722	D	1	P	0.42078	0.77	B	0.42995	0.404	T	0.55736	-0.8094	8	0.51188	T	0.08	.	14.3373	0.66600	1.0:0.0:0.0:0.0	.	318	A6NIZ0	.	Q	318	.	ENSP00000369364:K318Q	K	+	1	0	NDEL1	8307370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.294000	0.72738	2.167000	0.68274	0.482000	0.46254	AAA		0.378	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
STX8	9482	broad.mit.edu	37	17	9471774	9471774	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:9471774C>T	ENST00000306357.4	-	2	458	c.31G>A	c.(31-33)Gat>Aat	p.D11N	STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_Intron	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	11					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.D11N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						CAAGTAGAATCGTATGTGGAG	0.403																																					p.D11N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	17						.						125.0	101.0	109.0					17																	9471774		2203	4300	6503	9412499	SO:0001583	missense	9482	exon2			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.31G>A	17.37:g.9471774C>T	ENSP00000305255:p.Asp11Asn		9412499	NM_004853	O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831684	0.91036	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.52099	D	0.999948	D	0.69078	0.997	P	0.56088	0.791	T	0.73094	-0.4091	9	0.40728	T	0.16	0.7227	16.6943	0.85330	0.0:1.0:0.0:0.0	.	11	Q9UNK0	STX8_HUMAN	N	11	.	ENSP00000305255:D11N	D	-	1	0	STX8	9412499	0.995000	0.38212	0.965000	0.40720	0.975000	0.68041	4.039000	0.57325	2.680000	0.91292	0.655000	0.94253	GAT		0.403	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853	
RPTOR	57521	broad.mit.edu	37	17	78796075	78796075	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr17:78796075C>T	ENST00000306801.3	+	8	1327	c.965C>T	c.(964-966)aCc>aTc	p.T322I	RPTOR_ENST00000537330.1_Missense_Mutation_p.T137I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.T322I|RPTOR_ENST00000570891.1_Missense_Mutation_p.T322I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	322					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATCACAGACACCATCGCGTGG	0.642																																					p.T322I												.	.	0			c.C965T	17						.						180.0	177.0	178.0					17																	78796075		2203	4300	6503	76410670	SO:0001583	missense	57521	exon8				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.965C>T	17.37:g.78796075C>T	ENSP00000307272:p.Thr322Ile		76410670	NM_020761	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411695	0.83340	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.55760	0.5;0.56	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.989	D	0.85251	0.1044	10	0.66056	D	0.02	.	18.0485	0.89340	0.0:1.0:0.0:0.0	.	322;137;322	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	I	137;322;322	ENSP00000307272:T322I;ENSP00000442479:T322I	ENSP00000307272:T322I	T	+	2	0	RPTOR	76410670	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	7.303000	0.78871	2.263000	0.75096	0.591000	0.81541	ACC		0.642	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
POTED	317754	broad.mit.edu	37	21	14983023	14983023	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:14983023C>T	ENST00000299443.5	+	1	526	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	158						plasma membrane (GO:0005886)		p.I158I(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGGATCTCATCGTCATGCTCA	0.567																																					p.I158I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474T	21						.						8.0	13.0	12.0					21																	14983023		644	2835	3479	13904894	SO:0001819	synonymous_variant	317754	exon1			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.474C>T	21.37:g.14983023C>T			13904894	NM_174981	C9JCF7	Silent	SNP	ENST00000299443.5	37	CCDS13562.1																																																																																				0.567	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
LIPI	149998	broad.mit.edu	37	21	15558316	15558316	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:15558316T>G	ENST00000536861.1	-	3	506	c.507A>C	c.(505-507)ggA>ggC	p.G169G	LIPI_ENST00000344577.2_Silent_p.G190G			Q6XZB0	LIPI_HUMAN	lipase, member I	169					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.G190G(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)		GAAATATCTTTCCAACAAATC	0.313																																					p.G190G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A570C	21						.						102.0	101.0	101.0					21																	15558316		2203	4300	6503	14480187	SO:0001819	synonymous_variant	149998	exon3			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.507A>C	21.37:g.15558316T>G			14480187	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Silent	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	T	9.493	1.101071	0.20552	.	.	ENSG00000188992	ENST00000400211	.	.	.	5.12	3.94	0.45596	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50775	-0.8788	4	.	.	.	.	6.6752	0.23090	0.0:0.0786:0.1555:0.7658	.	.	.	.	Q	49	.	.	K	-	1	0	LIPI	14480187	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.031000	0.30165	0.869000	0.35703	0.528000	0.53228	AAA		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
SAMSN1	64092	broad.mit.edu	37	21	15882734	15882734	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:15882734C>T	ENST00000400566.1	-	5	539	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	SAMSN1_ENST00000285670.2_Missense_Mutation_p.R221Q|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	153					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.R153Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GTCATCCAGTCGAAAGCTGTC	0.478																																					p.R153Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	21						.						117.0	113.0	115.0					21																	15882734		2123	4253	6376	14804605	SO:0001583	missense	64092	exon5			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.458G>A	21.37:g.15882734C>T	ENSP00000383411:p.Arg153Gln		14804605	NM_022136	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656334	0.88056	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.53423	0.62;0.62	5.78	5.78	0.91487	.	0.065563	0.64402	D	0.000018	T	0.72145	0.3424	M	0.83483	2.645	0.52099	D	0.999947	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.68236	-0.5462	10	0.27082	T	0.32	-9.5361	20.012	0.97458	0.0:1.0:0.0:0.0	.	221;153	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	Q	221;153	ENSP00000285670:R221Q;ENSP00000383411:R153Q	ENSP00000285670:R221Q	R	-	2	0	SAMSN1	14804605	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.451000	0.60047	2.731000	0.93534	0.655000	0.94253	CGA		0.478	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
CXADR	1525	broad.mit.edu	37	21	18924180	18924180	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:18924180G>A	ENST00000284878.7	+	3	1072	c.324G>A	c.(322-324)acG>acA	p.T108T	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Silent_p.T108T|CXADR_ENST00000400166.1_Silent_p.T108T|CXADR_ENST00000306618.10_Silent_p.T108T|CXADR_ENST00000400169.1_Silent_p.T108T	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	108	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)	p.T108T(2)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAATGTAACGAATTTACAAC	0.358																																					p.T108T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.G324A	21						.						80.0	81.0	80.0					21																	18924180		2203	4300	6503	17846051	SO:0001819	synonymous_variant	1525	exon3			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.324G>A	21.37:g.18924180G>A			17846051	NM_001338	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	ENST00000284878.7	37	CCDS33519.1																																																																																				0.358	CXADR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000158209.1		
TMPRSS15	5651	broad.mit.edu	37	21	19666595	19666595	+	Silent	SNP	G	G	A	rs370908748		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:19666595G>A	ENST00000284885.3	-	21	2511	c.2478C>T	c.(2476-2478)tgC>tgT	p.C826C		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	826	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.C826C(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						ACCCATACACGCAGTGTGCGG	0.582																																					p.C826C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2478T	21						.	G		1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		2478	-9.1	0.4	21		56	0,8600		0,0,4300	no	coding-synonymous	TMPRSS15	NM_002772.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		826/1020	19666595	1,13005	2203	4300	6503	18588466	SO:0001819	synonymous_variant	5651	exon21				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.2478C>T	21.37:g.19666595G>A			18588466	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	broad.mit.edu	37	21	22707852	22707852	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:22707852G>T	ENST00000400546.1	+	7	1014	c.765G>T	c.(763-765)gaG>gaT	p.E255D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E113D|NCAM2_ENST00000535285.1_Missense_Mutation_p.E280D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	255	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E255D(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGAAAATGAGAAGTACATAT	0.368																																					p.E255D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G765T	21						.						78.0	72.0	74.0					21																	22707852		1861	4102	5963	21629723	SO:0001583	missense	4685	exon7				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.765G>T	21.37:g.22707852G>T	ENSP00000383392:p.Glu255Asp		21629723	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	9.515	1.106700	0.20714	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.34859	1.34;1.34;1.34	5.32	2.92	0.33932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047118	0.85682	D	0.000000	T	0.22044	0.0531	N	0.21373	0.66	0.58432	D	0.999996	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.14578	0.011;0.006;0.004	T	0.05099	-1.0906	10	0.25106	T	0.35	-27.8052	8.8264	0.35059	0.7728:0.0:0.2272:0.0	.	280;113;255	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	D	255;113;280	ENSP00000383392:E255D;ENSP00000284894:E113D;ENSP00000441887:E280D	ENSP00000284894:E113D	E	+	3	2	NCAM2	21629723	0.957000	0.32711	0.995000	0.50966	0.339000	0.28857	0.069000	0.14552	0.349000	0.23975	-0.550000	0.04213	GAG		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
ADAMTS5	11096	broad.mit.edu	37	21	28307000	28307000	+	Missense_Mutation	SNP	C	C	T	rs546124249	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:28307000C>T	ENST00000284987.5	-	4	1595	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	492	Disintegrin.				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.D492N(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						TGGGTGGCATCGTAGGTCTGT	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		17153	0.0		0.0	False		,,,				2504	0.002				p.D492N	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1474A	21						.						105.0	85.0	92.0					21																	28307000		2203	4300	6503	27228871	SO:0001583	missense	11096	exon4			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.1474G>A	21.37:g.28307000C>T	ENSP00000284987:p.Asp492Asn		27228871	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962868	0.92791	.	.	ENSG00000154736	ENST00000284987	T	0.08896	3.04	5.0	5.0	0.66597	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	L	0.46947	1.48	0.58432	D	0.999999	D	0.76494	0.999	P	0.54856	0.762	T	0.00394	-1.1767	10	0.40728	T	0.16	.	18.5013	0.90882	0.0:1.0:0.0:0.0	.	492	Q9UNA0	ATS5_HUMAN	N	492	ENSP00000284987:D492N	ENSP00000284987:D492N	D	-	1	0	ADAMTS5	27228871	1.000000	0.71417	0.827000	0.32855	0.863000	0.49368	5.553000	0.67287	2.624000	0.88883	0.557000	0.71058	GAT		0.572	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
RWDD2B	10069	broad.mit.edu	37	21	30378937	30378937	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:30378937C>T	ENST00000493196.1	-	5	861	c.761G>A	c.(760-762)cGc>cAc	p.R254H	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	254								p.R254H(2)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTCTCGATGGCGAATTAAAAT	0.308																																					p.R254H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G761A	21						.						65.0	60.0	62.0					21																	30378937		2203	4300	6503	29300808	SO:0001583	missense	10069	exon5			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.761G>A	21.37:g.30378937C>T	ENSP00000418693:p.Arg254His		29300808	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823178	0.71143	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.45	3.61	0.41365	Domain of unknown function DUF1115 (1);	0.162838	0.56097	D	0.000026	T	0.80082	0.4558	M	0.89840	3.065	0.45194	D	0.998203	D;B	0.89917	1.0;0.445	D;B	0.81914	0.995;0.077	T	0.80079	-0.1532	9	0.40728	T	0.16	-15.0736	10.6268	0.45512	0.1323:0.7992:0.0:0.0685	.	254;254	Q53FD2;P57060	.;RWD2B_HUMAN	H	254	.	ENSP00000418693:R254H	R	-	2	0	RWDD2B	29300808	1.000000	0.71417	0.904000	0.35570	0.567000	0.35839	7.264000	0.78432	0.825000	0.34637	0.650000	0.86243	CGC		0.308	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
RWDD2B	10069	broad.mit.edu	37	21	30380791	30380791	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:30380791C>A	ENST00000493196.1	-	2	319	c.219G>T	c.(217-219)aaG>aaT	p.K73N	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	73	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.K73N(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CCATTGTCTTCTTTTCAATAC	0.408																																					p.K73N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G219T	21						.						103.0	97.0	99.0					21																	30380791		2203	4300	6503	29302662	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.219G>T	21.37:g.30380791C>A	ENSP00000418693:p.Lys73Asn		29302662	NM_016940		Missense_Mutation	SNP	ENST00000493196.1	37	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170880	0.38315	.	.	ENSG00000156253	ENST00000493196	T	0.28895	1.59	5.65	5.65	0.86999	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.272209	0.44097	D	0.000482	T	0.26774	0.0655	L	0.38838	1.175	0.40436	D	0.979993	P	0.36110	0.537	B	0.42282	0.382	T	0.03524	-1.1028	10	0.20519	T	0.43	-30.0093	9.036	0.36289	0.1577:0.7676:0.0:0.0747	.	73	P57060	RWD2B_HUMAN	N	73	ENSP00000418693:K73N	ENSP00000418693:K73N	K	-	3	2	RWDD2B	29302662	0.602000	0.26916	1.000000	0.80357	0.991000	0.79684	0.635000	0.24629	2.941000	0.99782	0.655000	0.94253	AAG		0.408	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		
CLDN8	9073	broad.mit.edu	37	21	31587958	31587958	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:31587958T>C	ENST00000399899.1	-	1	433	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	CLDN8_ENST00000286809.1_Missense_Mutation_p.M96V	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	96					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.M96V(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						ATGGCCATCATGAAAGCCAAG	0.522																																					p.M96V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286G	21						.						115.0	93.0	100.0					21																	31587958		2203	4300	6503	30509829	SO:0001583	missense	9073	exon1			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.286A>G	21.37:g.31587958T>C	ENSP00000382783:p.Met96Val		30509829	NM_199328	D3DSE3|Q53EX7	Missense_Mutation	SNP	ENST00000399899.1	37	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	T	9.690	1.151545	0.21371	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.87491	-2.26;-2.26	4.84	2.4	0.29515	.	0.145348	0.64402	D	0.000011	T	0.75398	0.3844	L	0.28776	0.89	0.30607	N	0.75985	B	0.02656	0.0	B	0.12156	0.007	T	0.62905	-0.6755	10	0.22706	T	0.39	.	5.4049	0.16316	0.0:0.1539:0.2796:0.5665	.	96	P56748	CLD8_HUMAN	V	96	ENSP00000382783:M96V;ENSP00000286809:M96V	ENSP00000286809:M96V	M	-	1	0	CLDN8	30509829	0.006000	0.16342	1.000000	0.80357	0.964000	0.63967	-0.225000	0.09151	0.410000	0.25675	0.528000	0.53228	ATG		0.522	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328	
CLDN8	9073	broad.mit.edu	37	21	31588225	31588225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:31588225C>A	ENST00000399899.1	-	1	166	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	CLDN8_ENST00000286809.1_Nonsense_Mutation_p.E7*	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	7					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.E7*(1)|p.E7Q(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CCAGCGATTTCTAAGGCATGG	0.512																																					p.E7X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G19T	21						.						69.0	62.0	64.0					21																	31588225		2203	4300	6503	30510096	SO:0001587	stop_gained	9073	exon1			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.19G>T	21.37:g.31588225C>A	ENSP00000382783:p.Glu7*		30510096	NM_199328	D3DSE3|Q53EX7	Nonsense_Mutation	SNP	ENST00000399899.1	37	CCDS13587.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296636	0.60086	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	.	.	.	5.17	4.28	0.50868	.	0.118364	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.91	0.79467	0.0:0.1377:0.8623:0.0	.	.	.	.	X	7	.	ENSP00000286809:E7X	E	-	1	0	CLDN8	30510096	1.000000	0.71417	0.519000	0.27824	0.050000	0.14768	1.440000	0.35024	1.548000	0.49413	-0.153000	0.13522	GAA		0.512	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182260.1	NM_199328	
KRTAP24-1	643803	broad.mit.edu	37	21	31655189	31655189	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:31655189C>A	ENST00000340345.4	-	1	87	c.62G>T	c.(61-63)aGa>aTa	p.R21I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	21						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R21I(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ACAGTGAGTTCTGTATGATGT	0.493																																					p.R21I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G62T	21						.						54.0	55.0	54.0					21																	31655189		1989	4186	6175	30577060	SO:0001583	missense	643803	exon1			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.62G>T	21.37:g.31655189C>A	ENSP00000339238:p.Arg21Ile		30577060	NM_001085455	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718876	0.30503	.	.	ENSG00000188694	ENST00000340345	T	0.06687	3.27	5.06	3.22	0.36961	.	0.467297	0.19537	N	0.111895	T	0.24160	0.0585	M	0.75777	2.31	0.09310	N	0.999993	D	0.69078	0.997	D	0.70487	0.969	T	0.02837	-1.1104	10	0.72032	D	0.01	-7.3789	8.2231	0.31554	0.0:0.8087:0.0:0.1913	.	21	Q3LI83	KR241_HUMAN	I	21	ENSP00000339238:R21I	ENSP00000339238:R21I	R	-	2	0	KRTAP24-1	30577060	0.012000	0.17670	0.005000	0.12908	0.080000	0.17528	0.658000	0.24979	0.772000	0.33382	0.591000	0.81541	AGA		0.493	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
KRTAP13-3	337960	broad.mit.edu	37	21	31798108	31798108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:31798108G>T	ENST00000390690.2	-	1	178	c.123C>A	c.(121-123)tgC>tgA	p.C41*		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	41						intermediate filament (GO:0005882)		p.C41*(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGCTGGGAGAGCAGAGGTCAG	0.592																																					p.C41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C123A	21						.						66.0	73.0	71.0					21																	31798108		2203	4300	6503	30719979	SO:0001587	stop_gained	337960	exon1			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.123C>A	21.37:g.31798108G>T	ENSP00000375109:p.Cys41*		30719979	NM_181622	Q3LI78	Nonsense_Mutation	SNP	ENST00000390690.2	37	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	-	12.64	1.997274	0.35226	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	.	.	.	4.12	1.22	0.21188	.	0.000000	0.45606	U	0.000359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7465	6.3725	0.21489	0.1894:0.1532:0.6574:0.0	.	.	.	.	X	41	.	ENSP00000375109:C41X	C	-	3	2	KRTAP13-3	30719979	0.693000	0.27728	0.798000	0.32154	0.111000	0.19643	0.131000	0.15870	0.022000	0.15160	-0.813000	0.03139	TGC		0.592	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2		
SCAF4	57466	broad.mit.edu	37	21	33065732	33065732	+	Missense_Mutation	SNP	C	C	T	rs139069393	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:33065732C>T	ENST00000286835.7	-	12	1770	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	SCAF4_ENST00000399804.1_Missense_Mutation_p.R463Q|SCAF4_ENST00000434667.3_Missense_Mutation_p.R448Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	463						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R463Q(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						GGACCGAGATCGAGAACGTCG	0.493																																					p.R448Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1343A	21						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	109.0	88.0	95.0		1343,1388,1388	5.2	1.0	21	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SCAF4	NM_001145444.1,NM_001145445.1,NM_020706.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	448/1133,463/1126,463/1148	33065732	1,13005	2203	4300	6503	31987603	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.1388G>A	21.37:g.33065732C>T	ENSP00000286835:p.Arg463Gln		31987603	NM_001145444	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045109	0.93685	0.0	1.16E-4	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.41758	0.99;0.99;0.99	5.2	5.2	0.72013	.	0.162764	0.42294	D	0.000738	T	0.68348	0.2991	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.988;0.996;0.992	T	0.73129	-0.4080	10	0.72032	D	0.01	-13.2899	18.7325	0.91741	0.0:1.0:0.0:0.0	.	448;463;463;463	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	Q	448;463;463	ENSP00000402377:R448Q;ENSP00000286835:R463Q;ENSP00000382703:R463Q	ENSP00000286835:R463Q	R	-	2	0	SCAF4	31987603	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.555000	0.82223	2.413000	0.81919	0.557000	0.71058	CGA		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
SYNJ1	8867	broad.mit.edu	37	21	34029021	34029021	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:34029021C>A	ENST00000322229.7	-	20	2770	c.2771G>T	c.(2770-2772)aGt>aTt	p.S924I	SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382499.2_Missense_Mutation_p.S963I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S963I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S919I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.S924I			O43426	SYNJ1_HUMAN	synaptojanin 1	924	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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.S924I(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						TTCACCAAAACTTGCAAACTG	0.328																																					p.S963I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2888T	21						.						34.0	35.0	34.0					21																	34029021		2202	4300	6502	32950892	SO:0001583	missense	8867	exon21			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.2771G>T	21.37:g.34029021C>A	ENSP00000322234:p.Ser924Ile		32950892	NM_003895	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772113	0.31320	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.93712	-2.43;-3.27;-3.27;-2.43;-2.43	5.35	2.96	0.34315	Domain of unknown function DUF1866 (1);Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.569294	0.20445	N	0.092204	D	0.84606	0.5509	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.27013	0.051;0.166;0.135;0.052;0.145	B;B;B;B;B	0.28784	0.049;0.094;0.043;0.094;0.029	T	0.75199	-0.3402	10	0.54805	T	0.06	.	5.2177	0.15352	0.0:0.2277:0.2512:0.5211	.	919;963;924;924;924	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	I	919;924;963;963;924	ENSP00000371931:S919I;ENSP00000349903:S924I;ENSP00000371939:S963I;ENSP00000409667:S963I;ENSP00000322234:S924I	ENSP00000322234:S924I	S	-	2	0	SYNJ1	32950892	0.977000	0.34250	0.997000	0.53966	0.981000	0.71138	0.828000	0.27435	0.340000	0.23745	-0.339000	0.08088	AGT		0.328	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PAXBP1	94104	broad.mit.edu	37	21	34107355	34107355	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:34107355T>G	ENST00000331923.4	-	18	2849	c.2660A>C	c.(2659-2661)aAa>aCa	p.K887T	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000458479.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	887					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K887T(1)									TGCAAGGAGTTTTACTATCTG	0.318																																					p.K887T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2660C	21						.						68.0	62.0	64.0					21																	34107355		2201	4299	6500	33029226	SO:0001583	missense	94104	exon18			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2660A>C	21.37:g.34107355T>G	ENSP00000328992:p.Lys887Thr		33029226	NM_016631	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.973932	0.53720	.	.	ENSG00000159086	ENST00000331923	T	0.26223	1.75	4.98	4.98	0.66077	.	0.153604	0.56097	D	0.000026	T	0.38719	0.1051	L	0.47716	1.5	0.80722	D	1	D;D	0.64830	0.991;0.994	P;P	0.58013	0.831;0.725	T	0.08472	-1.0720	10	0.42905	T	0.14	-14.1959	15.0402	0.71785	0.0:0.0:0.0:1.0	.	887;396	Q9Y5B6;B3KSC0	GCFC1_HUMAN;.	T	887	ENSP00000328992:K887T	ENSP00000328992:K887T	K	-	2	0	GCFC1	33029226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.343000	0.59348	2.178000	0.69098	0.460000	0.39030	AAA		0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
DNAJC28	54943	broad.mit.edu	37	21	34861073	34861073	+	Nonsense_Mutation	SNP	C	C	A	rs138072076	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:34861073C>A	ENST00000314399.3	-	2	1066	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.E210*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.E210*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	210								p.E210*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						GCCATGGATTCTTGAATGAGG	0.378																																					p.E210X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G628T	21						.	C	stop/GLU,stop/GLU	0,4406		0,0,2203	176.0	170.0	172.0		628,628	5.4	1.0	21	dbSNP_134	172	4,8596	3.7+/-12.6	0,4,4296	no	stop-gained,stop-gained	DNAJC28	NM_001040192.1,NM_017833.3	,	0,4,6499	AA,AC,CC		0.0465,0.0,0.0308	,	210/389,210/389	34861073	4,13002	2203	4300	6503	33782943	SO:0001587	stop_gained	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.628G>T	21.37:g.34861073C>A	ENSP00000320303:p.Glu210*		33782943	NM_001040192	D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	C	39	7.632363	0.98399	0.0	4.65E-4	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-25.8209	17.9044	0.88914	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000320303:E210X	E	-	1	0	DNAJC28	33782943	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.257000	0.78362	2.530000	0.85305	0.655000	0.94253	GAA		0.378	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
TTC3	7267	broad.mit.edu	37	21	38460148	38460148	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:38460148G>T	ENST00000399017.2	+	3	2907	c.160G>T	c.(160-162)Gat>Tat	p.D54Y	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.D54Y|TTC3_ENST00000354749.2_Missense_Mutation_p.D54Y|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.D54Y	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	54					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D54Y(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCAATATAAAGATTATATCCA	0.313																																					p.D54Y	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G160T	21						.						71.0	73.0	72.0					21																	38460148		2203	4299	6502	37382018	SO:0001583	missense	7267	exon3			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.160G>T	21.37:g.38460148G>T	ENSP00000381981:p.Asp54Tyr		37382018	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819241	0.50633	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.50813	2.55;0.73;2.55;2.88;2.88;2.88	3.99	3.1	0.35709	.	0.653275	0.13886	N	0.355963	T	0.58264	0.2110	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58983	-0.7539	10	0.72032	D	0.01	-16.8034	6.848	0.23998	0.1243:0.0:0.8757:0.0	.	54	P53804	TTC3_HUMAN	Y	54	ENSP00000403943:D54Y;ENSP00000408456:D54Y;ENSP00000391891:D54Y;ENSP00000347889:D54Y;ENSP00000381981:D54Y;ENSP00000346791:D54Y	ENSP00000346791:D54Y	D	+	1	0	TTC3	37382018	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	1.805000	0.38883	2.198000	0.70561	0.655000	0.94253	GAT		0.313	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38523141	38523141	+	Nonsense_Mutation	SNP	G	G	T	rs546272125		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:38523141G>T	ENST00000399017.2	+	25	4980	c.2233G>T	c.(2233-2235)Gaa>Taa	p.E745*	TTC3_ENST00000540756.1_Nonsense_Mutation_p.E435*|TTC3_ENST00000355666.1_Nonsense_Mutation_p.E745*|TTC3_ENST00000354749.2_Nonsense_Mutation_p.E745*|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	745					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E745*(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGTCATAAAAGAAAAGGTTCC	0.303																																					p.E745X	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2233T	21						.						59.0	63.0	62.0					21																	38523141		2202	4297	6499	37445011	SO:0001587	stop_gained	7267	exon25			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2233G>T	21.37:g.38523141G>T	ENSP00000381981:p.Glu745*		37445011	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Nonsense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.265286|7.265286	0.98175|0.98175	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749|ENST00000414818	.|T	.|0.60920	.|0.15	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.347184|.	0.24896|.	N|.	0.034736|.	.|T	.|0.61837	.|0.2379	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72969	.|-0.4130	.|5	0.25106|0.66056	T|D	0.35|0.02	-27.9912|-27.9912	7.8839|7.8839	0.29637|0.29637	0.0862:0.1637:0.7501:0.0|0.0862:0.1637:0.7501:0.0	.|.	.|.	.|.	.|.	X|N	745;745;727;745;435;745;745|108	.|ENSP00000414658:K108N	ENSP00000346791:E745X|ENSP00000414658:K108N	E|K	+|+	1|3	0|2	TTC3|TTC3	37445011|37445011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.477000|1.477000	0.35431|0.35431	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.303	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38564433	38564433	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:38564433T>G	ENST00000399017.2	+	41	7883	c.5136T>G	c.(5134-5136)atT>atG	p.I1712M	TTC3_ENST00000355666.1_Missense_Mutation_p.I1712M|TTC3_ENST00000354749.2_Missense_Mutation_p.I1712M|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1712					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I1712M(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGAACAAATTAAGGCAATTA	0.353																																					p.I1712M	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5136G	21						.						60.0	59.0	60.0					21																	38564433		2202	4300	6502	37486303	SO:0001583	missense	7267	exon41			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5136T>G	21.37:g.38564433T>G	ENSP00000381981:p.Ile1712Met		37486303	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589308	0.28357	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.16196	2.36;2.36;2.36	5.09	-0.234	0.13074	.	0.095787	0.45606	D	0.000360	T	0.12817	0.0311	L	0.58810	1.83	0.43569	D	0.995893	B	0.09022	0.002	B	0.09377	0.004	T	0.16364	-1.0405	10	0.87932	D	0	-14.423	0.8314	0.01131	0.1598:0.1817:0.1661:0.4923	.	1712	P53804	TTC3_HUMAN	M	1712	ENSP00000347889:I1712M;ENSP00000381981:I1712M;ENSP00000346791:I1712M	ENSP00000346791:I1712M	I	+	3	3	TTC3	37486303	0.437000	0.25593	0.057000	0.19452	0.978000	0.69477	0.451000	0.21779	-0.202000	0.10268	-0.481000	0.04817	ATT		0.353	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
BRWD1	54014	broad.mit.edu	37	21	40578199	40578199	+	Splice_Site	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:40578199A>C	ENST00000333229.2	-	37	4526	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	BRWD1_ENST00000342449.3_Splice_Site_p.I1400S|BRWD1_ENST00000380800.3_Splice_Site_p.I1400S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1400	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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.I1400S(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)				CATACTATAAATCTGCAAGGA	0.264																																					p.I1400S	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4199G	21						.						24.0	26.0	25.0					21																	40578199		2198	4293	6491	39500069	SO:0001630	splice_region_variant	54014	exon37			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.4198-1T>G	21.37:g.40578199A>C			39500069	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.83|18.83	3.708152|3.708152	0.68615|0.68615	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.22743	.|1.94;1.94;1.94	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Bromodomain (6);	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.58878|0.58878	0.2153|0.2153	H|H	0.95114|0.95114	3.625|3.625	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.992;0.996;1.0	T|T	0.73062|0.73062	-0.4101|-0.4101	5|10	.|0.87932	.|D	.|0	-8.1425|-8.1425	14.4775|14.4775	0.67557|0.67557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1400;1400;1400	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	E|S	337|1400;1400;1400;356	.|ENSP00000330753:I1400S;ENSP00000344333:I1400S;ENSP00000370178:I1400S	.|ENSP00000330753:I1400S	D|I	-|-	3|2	2|0	BRWD1|BRWD1	39500069|39500069	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.815000|0.815000	0.46073|0.46073	8.392000|8.392000	0.90180|0.90180	1.831000|1.831000	0.53308|0.53308	0.459000|0.459000	0.35465|0.35465	GAT|ATT		0.264	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	Missense_Mutation
TMPRSS2	7113	broad.mit.edu	37	21	42870052	42870052	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:42870052C>A	ENST00000332149.5	-	2	143	c.9G>T	c.(7-9)ttG>ttT	p.L3F	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.L3F|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.L40F|TMPRSS2_ENST00000497881.1_5'UTR	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	3					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L3F(2)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTACTGAGTTCAAAGCCATCT	0.393			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																p.L40F			Dom	yes		21	21q22.3	7113	"""transmembrane protease, serine 2"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G120T	21						.						130.0	110.0	117.0					21																	42870052		2203	4300	6503	41791922	SO:0001583	missense	7113	exon2			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.9G>T	21.37:g.42870052C>A	ENSP00000330330:p.Leu3Phe		41791922	NM_001135099	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744818	0.30865	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	D;D;D;D;T	0.90004	-2.5;-2.6;-2.5;-2.51;-0.44	4.65	-0.526	0.11913	.	0.626656	0.12995	N	0.422136	D	0.89223	0.6654	L	0.59436	1.845	0.32745	N	0.507216	D;D	0.56746	0.977;0.961	P;P	0.56648	0.803;0.64	D	0.85969	0.1475	10	0.39692	T	0.17	.	7.6167	0.28163	0.0:0.3781:0.0:0.6219	.	40;3	F8WES1;O15393	.;TMPS2_HUMAN	F	3;40;3;3;3;3	ENSP00000330330:L3F;ENSP00000381588:L40F;ENSP00000391216:L3F;ENSP00000389006:L3F;ENSP00000397846:L3F	ENSP00000330330:L3F	L	-	3	2	TMPRSS2	41791922	0.961000	0.32948	0.797000	0.32132	0.953000	0.61014	-0.177000	0.09796	-0.276000	0.09206	-0.768000	0.03414	TTG		0.393	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1		
UMODL1	89766	broad.mit.edu	37	21	43536048	43536048	+	Missense_Mutation	SNP	G	G	A	rs371088374		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:43536048G>A	ENST00000408910.2	+	14	2428	c.2428G>A	c.(2428-2430)Gca>Aca	p.A810T	UMODL1_ENST00000400424.2_Missense_Mutation_p.A738T|UMODL1_ENST00000400427.1_Missense_Mutation_p.A866T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A938T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	810	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.A738T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCGCAACGCAAGCAGCCA	0.468																																					p.A866T	Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2596A	21						.	G	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3875		0,1,1937	94.0	96.0	96.0		2428,2596,2212,2812	-8.5	0.0	21		96	0,8284		0,0,4142	no	missense,missense,missense,missense	UMODL1	NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3	58,58,58,58	0,1,6079	AA,AG,GG		0.0,0.0258,0.0082	benign,benign,benign,benign	810/1319,866/1375,738/1247,938/1447	43536048	1,12159	1938	4142	6080	42409117	SO:0001583	missense	89766	exon13				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2428G>A	21.37:g.43536048G>A	ENSP00000386147:p.Ala810Thr		42409117	NM_001199527	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815527	0.16607	2.58E-4	0.0	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.39	-8.46	0.00942	SEA (1);	1.311000	0.05592	N	0.574917	T	0.13157	0.0319	N	0.14661	0.345	0.09310	N	1	B;P	0.43431	0.078;0.807	B;B	0.31495	0.016;0.131	T	0.25012	-1.0144	9	.	.	.	-0.7016	6.3136	0.21178	0.5089:0.0:0.2453:0.2458	.	938;810	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	866;738;938;810	ENSP00000383279:A866T;ENSP00000383276:A738T;ENSP00000386126:A938T;ENSP00000386147:A810T	.	A	+	1	0	UMODL1	42409117	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-1.673000	0.01462	-0.367000	0.07326	GCA		0.468	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
UBASH3A	53347	broad.mit.edu	37	21	43838606	43838606	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr21:43838606G>A	ENST00000319294.6	+	7	965	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.E274K|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.E274K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E312K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCAGCAGGACGAAGCCAGCGA	0.592																																					p.E274K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820A	21						.						75.0	75.0	75.0					21																	43838606		2203	4300	6503	42711675	SO:0001583	missense	53347	exon6			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.934G>A	21.37:g.43838606G>A	ENSP00000317327:p.Glu312Lys		42711675	NM_001001895	G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112384	0.77210	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.28069	1.63;1.63;1.63	5.13	5.13	0.70059	Src homology-3 domain (4);	0.000000	0.64402	D	0.000006	T	0.51193	0.1660	M	0.83012	2.62	0.20563	N	0.999881	D;D;D	0.76494	0.999;0.996;0.997	P;P;P	0.61328	0.853;0.806;0.887	T	0.50250	-0.8850	10	0.40728	T	0.16	-22.353	9.4398	0.38661	0.1624:0.0:0.8376:0.0	.	274;274;312	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	K	274;312;274	ENSP00000291535:E274K;ENSP00000317327:E312K;ENSP00000381408:E274K	ENSP00000291535:E274K	E	+	1	0	UBASH3A	42711675	0.926000	0.31397	1.000000	0.80357	0.988000	0.76386	3.282000	0.51693	2.389000	0.81357	0.591000	0.81541	GAA		0.592	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
CLEC16A	23274	broad.mit.edu	37	16	11071092	11071092	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:11071092C>T	ENST00000409790.1	+	8	969	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R245W	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.R247W(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						GCATCGGAATCGGGGTAAACT	0.517																																					p.R247W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C739T	16						.						131.0	130.0	130.0					16																	11071092		2040	4191	6231	10978593	SO:0001583	missense	23274	exon7			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.739C>T	16.37:g.11071092C>T	ENSP00000387122:p.Arg247Trp		10978593	NM_015226		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047592	0.75846	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.48522	0.81	5.81	4.81	0.61882	.	0.045054	0.85682	D	0.000000	T	0.62539	0.2436	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.95	T	0.63642	-0.6591	10	0.72032	D	0.01	-22.7045	11.1775	0.48607	0.3505:0.6495:0.0:0.0	.	247;245	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	W	247;247;245	ENSP00000387122:R247W	ENSP00000386495:R245W	R	+	1	2	CLEC16A	10978593	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.561000	0.53770	2.746000	0.94184	0.655000	0.94253	CGG		0.517	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
PRM1	5619	broad.mit.edu	37	16	11375010	11375010	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:11375010C>T	ENST00000312511.3	-	1	197	c.86G>A	c.(85-87)aGc>aAc	p.S29N	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	29					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.0?(1)|p.S29N(1)		large_intestine(2)|skin(2)	4						TGTCTGGCAGCTCCGCCTCCT	0.627																																					p.S29N												.	.	2	Substitution - Missense(1)|Whole gene deletion(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G86A	16						.						117.0	107.0	110.0					16																	11375010		2197	4300	6497	11282511	SO:0001583	missense	5619	exon1				CCDS10547.1	16p13.2	2009-08-06			ENSG00000175646	ENSG00000175646			9447	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 1"""	182880					Standard	NM_002761		Approved	CT94.1	uc002dav.3	P04553	OTTHUMG00000090521	ENST00000312511.3:c.86G>A	16.37:g.11375010C>T	ENSP00000310515:p.Ser29Asn		11282511	NM_002761		Missense_Mutation	SNP	ENST00000312511.3	37	CCDS10547.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858743	0.17178	.	.	ENSG00000175646	ENST00000312511	.	.	.	4.49	1.23	0.21249	.	1.115980	0.06875	N	0.801427	T	0.33059	0.0850	.	.	.	0.09310	N	1	B	0.30211	0.273	B	0.34093	0.175	T	0.41466	-0.9507	8	0.87932	D	0	-2.9089	3.1596	0.06516	0.1787:0.5477:0.1736:0.1	.	29	P04553	HSP1_HUMAN	N	29	.	ENSP00000310515:S29N	S	-	2	0	PRM1	11282511	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.538000	0.23160	0.482000	0.27582	0.484000	0.47621	AGC		0.627	PRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207010.1		
RSL1D1	26156	broad.mit.edu	37	16	11941570	11941570	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:11941570A>C	ENST00000571133.1	-	3	411	c.339T>G	c.(337-339)ttT>ttG	p.F113L	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	113					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.F113L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						GCTTTCTATAAAACTGTTCTG	0.343																																					p.F113L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T339G	16						.						97.0	92.0	93.0					16																	11941570		2197	4300	6497	11849071	SO:0001583	missense	26156	exon3			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.339T>G	16.37:g.11941570A>C	ENSP00000460871:p.Phe113Leu		11849071	NM_015659	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092185	0.36952	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.38560	1.13	5.0	2.73	0.32206	Ribosomal protein L1, superfamily (1);	0.343779	0.34291	N	0.004083	T	0.32255	0.0823	L	0.41573	1.285	0.80722	D	1	P;P	0.42337	0.776;0.47	P;B	0.44811	0.461;0.178	T	0.06445	-1.0826	10	0.14656	T	0.56	-10.7138	6.3555	0.21398	0.3746:0.0:0.6254:0.0	.	113;113	Q32Q62;O76021	.;RL1D1_HUMAN	L	113	ENSP00000347897:F113L	ENSP00000347897:F113L	F	-	3	2	RSL1D1	11849071	1.000000	0.71417	0.928000	0.36995	0.453000	0.32348	0.653000	0.24902	0.462000	0.27095	-0.624000	0.04008	TTT		0.343	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	
MYH11	4629	broad.mit.edu	37	16	15851731	15851731	+	Missense_Mutation	SNP	C	C	T	rs112553563	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:15851731C>T	ENST00000300036.5	-	13	1637	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	MYH11_ENST00000396324.3_Missense_Mutation_p.D517N|MYH11_ENST00000576790.2_Missense_Mutation_p.D510N|MYH11_ENST00000452625.2_Missense_Mutation_p.D517N	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	510	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.D510N(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						AGCCCAAAGTCGATGAAGTTC	0.602			T	CBFB	AML																																p.D517N			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1549A	16						.						166.0	130.0	142.0					16																	15851731		2197	4300	6497	15759232	SO:0001583	missense	4629	exon14			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.1528G>A	16.37:g.15851731C>T	ENSP00000300036:p.Asp510Asn		15759232	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514322	0.96402	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.91	4.91	0.64330	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.84727	0.5536	M	0.82323	2.585	0.80722	D	1	P;D;D;D;D;D	0.53462	0.884;0.96;0.96;0.96;0.96;0.96	D;P;P;D;P;P	0.66196	0.942;0.89;0.89;0.917;0.89;0.89	D	0.87449	0.2400	10	0.87932	D	0	.	17.1125	0.86679	0.0:1.0:0.0:0.0	.	517;510;510;517;510;517	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	N	510;510;517;517;517	ENSP00000300036:D510N;ENSP00000345136:D510N;ENSP00000379616:D517N;ENSP00000407821:D517N	ENSP00000300036:D510N	D	-	1	0	MYH11	15759232	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.747000	0.85070	2.265000	0.75225	0.462000	0.41574	GAC		0.602	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
TMC5	79838	broad.mit.edu	37	16	19451918	19451918	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:19451918G>T	ENST00000396229.2	+	3	1307	c.558G>T	c.(556-558)aaG>aaT	p.K186N	TMC5_ENST00000541464.1_Missense_Mutation_p.K186N|TMC5_ENST00000381414.4_Missense_Mutation_p.K186N|TMC5_ENST00000542583.2_Missense_Mutation_p.K186N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	186					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K186N(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						GATCCAGAAAGAATCTGGAAC	0.468																																					p.K186N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G558T	16						.						101.0	98.0	99.0					16																	19451918		1924	4158	6082	19359419	SO:0001583	missense	79838	exon3			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.558G>T	16.37:g.19451918G>T	ENSP00000379531:p.Lys186Asn		19359419	NM_001105248	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	3.495	-0.103121	0.06967	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.70164	-0.38;-0.25;-0.46;-0.46	5.04	-2.18	0.07037	.	5.593870	0.00166	N	0.000000	T	0.35480	0.0933	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.15178	-1.0446	10	0.24483	T	0.36	-9.137	0.9522	0.01378	0.3751:0.1535:0.3146:0.1568	.	186;186;186	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	N	186	ENSP00000441227:K186N;ENSP00000370822:K186N;ENSP00000379531:K186N;ENSP00000446274:K186N	ENSP00000370822:K186N	K	+	3	2	TMC5	19359419	0.048000	0.20356	0.066000	0.19879	0.247000	0.25773	-0.169000	0.09911	-0.116000	0.11893	0.591000	0.81541	AAG		0.468	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
GDE1	51573	broad.mit.edu	37	16	19522173	19522173	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:19522173G>A	ENST00000353258.3	-	3	711	c.531C>T	c.(529-531)ggC>ggT	p.G177G		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	177	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.G177G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TGTGTGCATGGCCTTTGACAT	0.373																																					p.G177G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	16						.						177.0	167.0	170.0					16																	19522173		2197	4300	6497	19429674	SO:0001819	synonymous_variant	51573	exon3				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.531C>T	16.37:g.19522173G>A			19429674	NM_016641	O43334|Q6PKF7|Q7KYR4	Silent	SNP	ENST00000353258.3	37	CCDS10578.1																																																																																				0.373	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641	
PDILT	204474	broad.mit.edu	37	16	20373756	20373756	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:20373756G>T	ENST00000302451.4	-	10	1634	c.1386C>A	c.(1384-1386)ttC>ttA	p.F462L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	462					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.F462L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACAGCCTGAAGAATGGGTACC	0.463																																					p.F462L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1386A	16						.						170.0	135.0	147.0					16																	20373756		2203	4300	6503	20281257	SO:0001583	missense	204474	exon10				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1386C>A	16.37:g.20373756G>T	ENSP00000305465:p.Phe462Leu		20281257	NM_174924	Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921363	0.52653	.	.	ENSG00000169340	ENST00000302451	T	0.03152	4.03	5.0	4.05	0.47172	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.163737	0.56097	D	0.000030	T	0.05686	0.0149	N	0.11427	0.14	0.32319	N	0.562667	D	0.63046	0.992	D	0.65773	0.938	T	0.19353	-1.0308	10	0.72032	D	0.01	.	7.643	0.28305	0.1865:0.0:0.8135:0.0	.	462	Q8N807	PDILT_HUMAN	L	462	ENSP00000305465:F462L	ENSP00000305465:F462L	F	-	3	2	PDILT	20281257	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.647000	0.46639	1.336000	0.45506	0.563000	0.77884	TTC		0.463	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ERN2	10595	broad.mit.edu	37	16	23722319	23722319	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:23722319C>A	ENST00000457008.2	-	2	152	c.114G>T	c.(112-114)gaG>gaT	p.E38D	CTD-2385L22.1_ENST00000563611.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.E86D					endoplasmic reticulum to nucleus signaling 2									p.E86D(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCAGGAGGTTCTCTGGCCTGA	0.582																																					p.E86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	16						.						107.0	98.0	101.0					16																	23722319		2197	4300	6497	23629820	SO:0001583	missense	10595	exon2			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.114G>T	16.37:g.23722319C>A	ENSP00000413812:p.Glu38Asp		23629820	NM_033266		Missense_Mutation	SNP	ENST00000457008.2	37		.	.	.	.	.	.	.	.	.	.	C	12.60	1.986300	0.35036	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.55588	0.51;0.51	5.61	-0.587	0.11690	.	0.100033	0.64402	N	0.000003	T	0.43233	0.1238	M	0.64404	1.975	0.40887	D	0.984043	B;B	0.16603	0.018;0.001	B;B	0.19666	0.026;0.002	T	0.21348	-1.0248	10	0.36615	T	0.2	.	6.9666	0.24627	0.0:0.5286:0.2376:0.2338	.	38;38	E7ETG2;A5YM65	.;.	D	86;38	ENSP00000256797:E86D;ENSP00000413812:E38D	ENSP00000256797:E86D	E	-	3	2	ERN2	23629820	0.975000	0.34042	0.943000	0.38184	0.977000	0.68977	0.189000	0.17037	0.039000	0.15632	0.563000	0.77884	GAG		0.582	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
CACNG3	10368	broad.mit.edu	37	16	24372804	24372804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:24372804G>T	ENST00000005284.3	+	4	1770	c.568G>T	c.(568-570)Gaa>Taa	p.E190*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	190					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	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.E190*(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATCATCGCAGAAATTGTAGG	0.468																																					p.E190X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G568T	16						.						126.0	127.0	127.0					16																	24372804		2197	4300	6497	24280305	SO:0001587	stop_gained	10368	exon4			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.568G>T	16.37:g.24372804G>T	ENSP00000005284:p.Glu190*		24280305	NM_006539		Nonsense_Mutation	SNP	ENST00000005284.3	37	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	46	12.905747	0.99705	.	.	ENSG00000006116	ENST00000005284	.	.	.	4.96	4.01	0.46588	.	0.049960	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-11.2351	15.153	0.72717	0.0:0.1421:0.8579:0.0	.	.	.	.	X	190	.	ENSP00000005284:E190X	E	+	1	0	CACNG3	24280305	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	7.662000	0.83803	1.081000	0.41110	-0.121000	0.15023	GAA		0.468	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:24581622C>T	ENST00000319715.4	+	17	4043	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.A1170V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1204					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1204V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368																																					p.A1170V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3509T	16						.						42.0	47.0	45.0					16																	24581622		2197	4298	6495	24489123	SO:0001583	missense	5930	exon16				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3611C>T	16.37:g.24581622C>T	ENSP00000317872:p.Ala1204Val		24489123	NM_018703	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	c	9.642	1.139303	0.21205	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.17213	2.29;2.29	5.59	4.65	0.58169	.	0.314743	0.27227	N	0.020321	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.19679	-1.0298	10	0.41790	T	0.15	-2.5212	6.7918	0.23703	0.1431:0.7081:0.0:0.1488	.	1170;1204	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	1204;1170	ENSP00000317872:A1204V;ENSP00000316291:A1170V	ENSP00000317872:A1204V	A	+	2	0	RBBP6	24489123	0.998000	0.40836	0.735000	0.30896	0.050000	0.14768	2.636000	0.46545	1.368000	0.46115	-0.119000	0.15052	GCG		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910	
ZKSCAN2	342357	broad.mit.edu	37	16	25258337	25258337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:25258337G>A	ENST00000328086.7	-	5	1983	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	394					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R394*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AACTTGGTTCGACACTGTTCT	0.473																																					p.R394X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1180T	16						.						139.0	129.0	132.0					16																	25258337		2197	4300	6497	25165838	SO:0001587	stop_gained	342357	exon5			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1180C>T	16.37:g.25258337G>A	ENSP00000331626:p.Arg394*		25165838	NM_001012981	A1L3B4|Q6ZN77	Nonsense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	44	11.192526	0.99528	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	.	.	.	5.76	3.65	0.41850	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.0843	11.7888	0.52057	0.0:0.0:0.6854:0.3146	.	.	.	.	X	394	.	ENSP00000331626:R394X	R	-	1	2	ZKSCAN2	25165838	0.997000	0.39634	0.997000	0.53966	0.994000	0.84299	1.924000	0.40065	1.531000	0.49152	0.655000	0.94253	CGA		0.473	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
HS3ST4	9951	broad.mit.edu	37	16	26147061	26147061	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:26147061G>T	ENST00000331351.5	+	2	1255	c.863G>T	c.(862-864)aGa>aTa	p.R288I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	288					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R288I(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGGTGGTGAGAAACCCCGTG	0.512																																					p.R288I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G863T	16						.						143.0	131.0	135.0					16																	26147061		1568	3582	5150	26054562	SO:0001583	missense	9951	exon2			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.863G>T	16.37:g.26147061G>T	ENSP00000330606:p.Arg288Ile		26054562	NM_006040	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236830	0.79800	.	.	ENSG00000182601	ENST00000331351	D	0.84370	-1.84	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000007	D	0.92414	0.7592	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91291	0.5059	10	0.33940	T	0.23	.	18.0433	0.89325	0.0:0.0:1.0:0.0	.	288	Q9Y661	HS3S4_HUMAN	I	288	ENSP00000330606:R288I	ENSP00000330606:R288I	R	+	2	0	HS3ST4	26054562	1.000000	0.71417	0.815000	0.32552	0.985000	0.73830	9.787000	0.99055	2.491000	0.84063	0.655000	0.94253	AGA		0.512	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
ZNF200	7752	broad.mit.edu	37	16	3274570	3274570	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:3274570T>A	ENST00000431561.3	-	5	1122	c.510A>T	c.(508-510)gaA>gaT	p.E170D	ZNF200_ENST00000575948.1_Missense_Mutation_p.E169D|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.E169D|ZNF200_ENST00000414144.2_Missense_Mutation_p.E170D|ZNF200_ENST00000396870.4_Missense_Mutation_p.E169D|ZNF200_ENST00000396868.3_Missense_Mutation_p.E169D	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	170					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.E170D(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TTTCTACAGGTTCCCTCTCAG	0.418																																					p.E170D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A510T	16						.						80.0	80.0	80.0					16																	3274570		2197	4300	6497	3214571	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.510A>T	16.37:g.3274570T>A	ENSP00000395723:p.Glu170Asp		3214571	NM_003454	D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	T	9.877	1.200474	0.22121	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.07114	3.22;3.25;3.31	5.0	3.89	0.44902	.	0.175046	0.27535	N	0.018934	T	0.09512	0.0234	L	0.54323	1.7	0.09310	N	1	B;B;B	0.14805	0.006;0.006;0.011	B;B;B	0.18263	0.009;0.009;0.021	T	0.20605	-1.0270	10	0.62326	D	0.03	-5.0367	7.9476	0.29995	0.1821:0.0:0.0:0.8179	.	169;170;169	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	D	170;169;169;169;170	ENSP00000380077:E169D;ENSP00000380080:E169D;ENSP00000395723:E170D	ENSP00000380077:E169D	E	-	3	2	ZNF200	3214571	0.173000	0.23056	0.303000	0.25071	0.009000	0.06853	0.688000	0.25422	0.889000	0.36185	0.374000	0.22700	GAA		0.418	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1		
SEZ6L2	26470	broad.mit.edu	37	16	29907158	29907158	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:29907158C>T	ENST00000308713.5	-	4	1062	c.535G>A	c.(535-537)Gag>Aag	p.E179K	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E135K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E109K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	179	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.E179K(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTCGCCCTCGGAGATGTTG	0.557																																					p.E179K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535A	16						.						77.0	77.0	77.0					16																	29907158		2197	4300	6497	29814659	SO:0001583	missense	26470	exon4			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.535G>A	16.37:g.29907158C>T	ENSP00000312550:p.Glu179Lys		29814659	NM_201575	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629999	0.87660	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.18338	2.22;2.22;2.22	5.69	5.69	0.88448	CUB (5);	0.231262	0.29940	N	0.010806	T	0.23846	0.0577	L	0.46157	1.445	0.42555	D	0.993122	P;D;P;P;P	0.53745	0.89;0.962;0.893;0.912;0.953	P;P;B;B;B	0.48334	0.483;0.574;0.251;0.367;0.438	T	0.01010	-1.1482	10	0.21540	T	0.41	.	18.5897	0.91206	0.0:1.0:0.0:0.0	.	135;179;109;179;109	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	K	109;179;135	ENSP00000310206:E109K;ENSP00000312550:E179K;ENSP00000439412:E135K	ENSP00000312550:E179K	E	-	1	0	SEZ6L2	29814659	0.962000	0.33011	0.995000	0.50966	0.995000	0.86356	6.753000	0.74904	2.700000	0.92200	0.561000	0.74099	GAG		0.557	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
ABCC11	85320	broad.mit.edu	37	16	48244912	48244912	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:48244912C>A	ENST00000394747.1	-	10	1904	c.1555G>T	c.(1555-1557)Gaa>Taa	p.E519*	ABCC11_ENST00000353782.5_Nonsense_Mutation_p.E519*|ABCC11_ENST00000356608.2_Nonsense_Mutation_p.E519*|ABCC11_ENST00000537808.1_Nonsense_Mutation_p.E519*|ABCC11_ENST00000394748.1_Nonsense_Mutation_p.E519*	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	519	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|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)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.E519*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CTGTTCCCTTCTTCCTCTGGC	0.622																																					p.E519X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1555T	16						.						102.0	85.0	91.0					16																	48244912		2201	4300	6501	46802413	SO:0001587	stop_gained	85320	exon11			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1555G>T	16.37:g.48244912C>A	ENSP00000378230:p.Glu519*		46802413	NM_145186	Q8TDJ0|Q96JA6|Q9BX80	Nonsense_Mutation	SNP	ENST00000394747.1	37	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929042	0.92389	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	.	.	.	4.64	0.708	0.18144	.	0.889352	0.09855	N	0.747087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-1.9391	5.4001	0.16291	0.0:0.0981:0.3734:0.5286	.	.	.	.	X	519	.	ENSP00000311326:E519X	E	-	1	0	ABCC11	46802413	0.000000	0.05858	0.051000	0.19133	0.116000	0.19942	-0.103000	0.10940	-0.134000	0.11516	-0.300000	0.09419	GAA		0.622	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
LONP2	83752	broad.mit.edu	37	16	48385596	48385596	+	Silent	SNP	C	C	T	rs150743514		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:48385596C>T	ENST00000285737.4	+	15	2535	c.2442C>T	c.(2440-2442)aaC>aaT	p.N814N	LONP2_ENST00000535754.1_Silent_p.N770N|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.N814N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCCAGGCAACGTACGACAGG	0.473																																					p.N814N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2442T	16						.	C		0,4400		0,0,2200	91.0	88.0	89.0		2442	-12.1	0.0	16	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LONP2	NM_031490.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		814/853	48385596	1,12999	2200	4300	6500	46943097	SO:0001819	synonymous_variant	83752	exon15			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2442C>T	16.37:g.48385596C>T			46943097	NM_031490		Silent	SNP	ENST00000285737.4	37	CCDS10734.1																																																																																				0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
N4BP1	9683	broad.mit.edu	37	16	48595229	48595229	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:48595229A>C	ENST00000262384.3	-	2	1561	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	442					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.F442C(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAACTGAGAAAATTTTTCTAC	0.358																																					p.F442C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1325G	16						.						104.0	97.0	99.0					16																	48595229		1857	4100	5957	47152730	SO:0001583	missense	9683	exon2			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.1325T>G	16.37:g.48595229A>C	ENSP00000262384:p.Phe442Cys		47152730	NM_153029	A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	A	9.122	1.009348	0.19277	.	.	ENSG00000102921	ENST00000262384	T	0.44482	0.92	5.38	1.46	0.22682	.	1.017860	0.07817	N	0.959136	T	0.28067	0.0692	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24012	-1.0172	10	0.39692	T	0.17	-3.8546	6.7142	0.23294	0.6535:0.1262:0.2203:0.0	.	442	O75113	N4BP1_HUMAN	C	442	ENSP00000262384:F442C	ENSP00000262384:F442C	F	-	2	0	N4BP1	47152730	0.000000	0.05858	0.017000	0.16124	0.827000	0.46813	0.418000	0.21230	0.431000	0.26258	0.383000	0.25322	TTT		0.358	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	
UBN1	29855	broad.mit.edu	37	16	4910871	4910871	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:4910871T>G	ENST00000396658.4	+	6	1581	c.878T>G	c.(877-879)tTt>tGt	p.F293C	UBN1_ENST00000545171.1_Missense_Mutation_p.F293C|UBN1_ENST00000590769.1_Missense_Mutation_p.F293C|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.F293C	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	293					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F293C(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTCTCACTCTTTGGCTCTACT	0.572																																					p.F293C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T878G	16						.						158.0	127.0	137.0					16																	4910871		2197	4300	6497	4850872	SO:0001583	missense	29855	exon6			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.878T>G	16.37:g.4910871T>G	ENSP00000379894:p.Phe293Cys		4850872	NM_016936	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196696	0.58126	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51325	1.3;0.71;1.3	5.77	5.77	0.91146	.	0.162599	0.56097	D	0.000036	T	0.62877	0.2464	L	0.59436	1.845	0.39588	D	0.969542	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.949	T	0.66689	-0.5860	10	0.62326	D	0.03	-17.2381	11.4648	0.50232	0.1342:0.0:0.0:0.8658	.	293;293	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	C	293	ENSP00000262376:F293C;ENSP00000442379:F293C;ENSP00000379894:F293C	ENSP00000262376:F293C	F	+	2	0	UBN1	4850872	1.000000	0.71417	0.995000	0.50966	0.605000	0.37080	4.451000	0.60047	2.326000	0.78906	0.533000	0.62120	TTT		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936	
N4BP1	9683	broad.mit.edu	37	16	48595972	48595972	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:48595972C>T	ENST00000262384.3	-	2	818	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	194					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.E194E(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CAAAGAGATTCTCCTCACCTT	0.383																																					p.E194E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G582A	16						.						102.0	90.0	93.0					16																	48595972		1855	4094	5949	47153473	SO:0001819	synonymous_variant	9683	exon2			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.582G>A	16.37:g.48595972C>T			47153473	NM_153029	A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	CCDS45479.1																																																																																				0.383	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664	
NOD2	64127	broad.mit.edu	37	16	50744798	50744798	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:50744798C>A	ENST00000300589.2	+	4	1081	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	326	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.L326I(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAGGAATTTCTCTTTGTCTT	0.592																																					p.L326I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976A	16						.						45.0	42.0	43.0					16																	50744798		2198	4300	6498	49302299	SO:0001583	missense	64127	exon4			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.976C>A	16.37:g.50744798C>A	ENSP00000300589:p.Leu326Ile		49302299	NM_022162	E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	7.424	0.637229	0.14386	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79352	-1.26	5.62	2.63	0.31362	NACHT nucleoside triphosphatase (1);	0.000000	0.56097	D	0.000027	T	0.82263	0.4999	M	0.72894	2.215	0.24537	N	0.994084	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.87578	0.998;0.948;0.998	T	0.69624	-0.5095	10	0.18710	T	0.47	.	5.0975	0.14740	0.2893:0.5555:0.0:0.1552	.	110;299;326	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	I	299;326	ENSP00000300589:L326I	ENSP00000300589:L326I	L	+	1	0	NOD2	49302299	0.151000	0.22747	0.323000	0.25347	0.082000	0.17680	0.503000	0.22610	0.328000	0.23435	-0.463000	0.05309	CTC		0.592	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162	
CHD9	80205	broad.mit.edu	37	16	53326847	53326847	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:53326847A>G	ENST00000398510.3	+	28	5480	c.5393A>G	c.(5392-5394)aAc>aGc	p.N1798S	CHD9_ENST00000566029.1_Missense_Mutation_p.N1798S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1798S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1798S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1798					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.N1798S(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)				ACTAATAAAAACAGACAAATT	0.438																																					p.N1798S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5393G	16						.						114.0	107.0	109.0					16																	53326847		1902	4128	6030	51884348	SO:0001583	missense	80205	exon29			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.5393A>G	16.37:g.53326847A>G	ENSP00000381522:p.Asn1798Ser		51884348	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	13.53	2.264997	0.40095	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T;T	0.78816	-1.21;-1.21	5.35	4.21	0.49690	.	0.000000	0.64402	D	0.000009	T	0.56572	0.1994	N	0.08118	0	0.28447	N	0.916534	B;B;B;B	0.14438	0.001;0.01;0.002;0.003	B;B;B;B	0.17433	0.002;0.018;0.002;0.004	T	0.52328	-0.8590	10	0.56958	D	0.05	-13.7578	7.106	0.25364	0.777:0.1485:0.0745:0.0	.	166;1798;1798;1798	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1798;1798;166	ENSP00000396345:N1798S;ENSP00000381522:N1798S	ENSP00000381522:N1798S	N	+	2	0	CHD9	51884348	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.534000	0.53568	2.023000	0.59567	0.482000	0.46254	AAC		0.438	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
NLRC5	84166	broad.mit.edu	37	16	57115519	57115519	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:57115519T>C	ENST00000262510.6	+	48	5711	c.5486T>C	c.(5485-5487)aTc>aCc	p.I1829T	NLRC5_ENST00000539144.1_Missense_Mutation_p.I1800T|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.I1800T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1829					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.I1829T(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)				ATCCAAGTCATCCGGTAACAG	0.622																																					p.I1829T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5486C	16						.						88.0	92.0	91.0					16																	57115519		2198	4300	6498	55673020	SO:0001583	missense	84166	exon48			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.5486T>C	16.37:g.57115519T>C	ENSP00000262510:p.Ile1829Thr		55673020	NM_032206	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.416129	0.62511	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.56941	0.43;0.43;0.43	4.45	4.45	0.53987	.	.	.	.	.	T	0.67515	0.2901	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.71331	-0.4625	9	0.72032	D	0.01	.	10.3736	0.44068	0.0:0.0:0.0:1.0	.	1829	Q86WI3	NLRC5_HUMAN	T	1829;1800;1800	ENSP00000262510:I1829T;ENSP00000308886:I1800T;ENSP00000441727:I1800T	ENSP00000262510:I1829T	I	+	2	0	NLRC5	55673020	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.490000	0.53245	1.762000	0.52044	0.459000	0.35465	ATC		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
RSPRY1	89970	broad.mit.edu	37	16	57246917	57246917	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:57246917T>G	ENST00000537866.1	+	5	1423	c.550T>G	c.(550-552)Tta>Gta	p.L184V	RSPRY1_ENST00000394420.4_Missense_Mutation_p.L184V			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	184						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.L184V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						AATTCTCAATTTAAATGGAGA	0.433																																					p.L184V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T550G	16						.						107.0	112.0	110.0					16																	57246917		2198	4300	6498	55804418	SO:0001583	missense	89970	exon5			AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.550T>G	16.37:g.57246917T>G	ENSP00000443176:p.Leu184Val		55804418	NM_133368	Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.868577	0.51588	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	T;T	0.64085	-0.08;-0.08	5.37	4.28	0.50868	.	0.238371	0.36409	N	0.002609	T	0.52075	0.1712	L	0.53249	1.67	0.58432	D	0.999999	P	0.35411	0.5	B	0.25614	0.062	T	0.52079	-0.8623	10	0.49607	T	0.09	.	11.1537	0.48476	0.0:0.0722:0.0:0.9278	.	184	Q96DX4	RSPRY_HUMAN	V	184	ENSP00000377942:L184V;ENSP00000443176:L184V	ENSP00000377942:L184V	L	+	1	2	RSPRY1	55804418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.698000	0.54771	0.887000	0.36136	0.529000	0.55759	TTA		0.433	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368	
TSNAXIP1	55815	broad.mit.edu	37	16	67858496	67858496	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:67858496G>T	ENST00000388833.3	+	6	707	c.330G>T	c.(328-330)agG>agT	p.R110S	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R95S|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R164S	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1									p.R110S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCCACCAAAGGGAGAAGATTC	0.542																																					p.R110S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G330T	16						.						53.0	53.0	53.0					16																	67858496		1910	4138	6048	66415997	SO:0001583	missense	55815	exon6			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.330G>T	16.37:g.67858496G>T	ENSP00000373485:p.Arg110Ser		66415997	NM_018430		Missense_Mutation	SNP	ENST00000388833.3	37	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357853	0.61403	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	T;T	0.00995	5.46;5.46	6.17	4.19	0.49359	.	0.146689	0.43416	D	0.000574	T	0.01835	0.0058	M	0.66939	2.045	0.38429	D	0.946384	P;P;P	0.46142	0.873;0.873;0.763	B;B;B	0.42282	0.382;0.382;0.242	T	0.59118	-0.7514	10	0.72032	D	0.01	-29.0475	11.8927	0.52638	0.1397:0.0:0.8603:0.0	.	95;164;110	E7ENJ7;B4DXD0;Q2TAA8	.;.;TXIP1_HUMAN	S	95;110	ENSP00000411472:R95S;ENSP00000373485:R110S	ENSP00000373485:R110S	R	+	3	2	TSNAXIP1	66415997	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.332000	0.33805	1.599000	0.50093	0.655000	0.94253	AGG		0.542	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430	
CDH1	999	broad.mit.edu	37	16	68857307	68857307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:68857307G>T	ENST00000261769.5	+	13	2133	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E587*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	648	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.E648*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCCAGCCCAAGAATCTATCAT	0.398			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												p.E648X		yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1942T	16						.						63.0	65.0	64.0					16																	68857307		2198	4300	6498	67414808	SO:0001587	stop_gained	999	exon13	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1942G>T	16.37:g.68857307G>T	ENSP00000261769:p.Glu648*		67414808	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472817	0.96274	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	6.04	5.09	0.68999	.	0.120446	0.36932	N	0.002339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.0494	0.58946	0.0744:0.0:0.9256:0.0	.	.	.	.	X	648;666;587	.	ENSP00000261769:E648X	E	+	1	0	CDH1	67414808	0.998000	0.40836	0.021000	0.16686	0.013000	0.08279	3.321000	0.51999	1.561000	0.49584	0.563000	0.77884	GAA		0.398	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
COG4	25839	broad.mit.edu	37	16	70551549	70551549	+	Missense_Mutation	SNP	G	G	A	rs149620212	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:70551549G>A	ENST00000323786.5	-	3	370	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	COG4_ENST00000564653.1_Missense_Mutation_p.R117C|COG4_ENST00000393612.4_Missense_Mutation_p.R113C	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	113	Interacts with STX5.				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.R117C(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)				TCAAGCTGACGAACTTTGCTG	0.458													g|||	2	0.000399361	0.0	0.0014	5008	,	,		15606	0.0		0.0	False		,,,				2504	0.001				p.R117C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C349T	16						.		CYS/ARG,CYS/ARG	0,4396		0,0,2198	137.0	121.0	126.0		349,349	5.3	1.0	16	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COG4	NM_001195139.1,NM_015386.2	180,180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	117/769,117/790	70551549	1,12995	2198	4300	6498	69109050	SO:0001583	missense	25839	exon3			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.349C>T	16.37:g.70551549G>A	ENSP00000315775:p.Arg117Cys		69109050	NM_015386	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	g	20.6	4.015934	0.75161	0.0	1.16E-4	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.47869	0.83;0.83;0.83	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.77365	-0.2615	10	0.87932	D	0	-5.2429	19.0495	0.93038	0.0:0.0:1.0:0.0	.	112;113	Q6PIW8;Q9H9E3	.;COG4_HUMAN	C	117;113;113;40	ENSP00000315775:R117C;ENSP00000377236:R113C;ENSP00000461912:R40C	ENSP00000315775:R117C	R	-	1	0	COG4	69109050	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.144000	0.58057	2.496000	0.84212	0.450000	0.29827	CGT		0.458	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		
SF3B3	23450	broad.mit.edu	37	16	70582330	70582330	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:70582330C>T	ENST00000302516.5	+	11	1598	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	463					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.R463C(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTGGACAGTGCGTCGACACAT	0.478																																					p.R463C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1387T	16						.						159.0	135.0	143.0					16																	70582330		2198	4300	6498	69139831	SO:0001583	missense	23450	exon11			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1387C>T	16.37:g.70582330C>T	ENSP00000305790:p.Arg463Cys		69139831	NM_012426	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327134	0.41197	.	.	ENSG00000189091	ENST00000302516	T	0.47177	0.85	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	L	0.57536	1.79	0.80722	D	1	P	0.34662	0.462	B	0.37239	0.244	T	0.51100	-0.8748	10	0.72032	D	0.01	.	13.0613	0.59008	0.2657:0.7343:0.0:0.0	.	463	Q15393	SF3B3_HUMAN	C	463	ENSP00000305790:R463C	ENSP00000305790:R463C	R	+	1	0	SF3B3	69139831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.991000	0.56973	2.752000	0.94435	0.655000	0.94253	CGT		0.478	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426	
HYDIN	54768	broad.mit.edu	37	16	71218803	71218803	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:71218803C>T	ENST00000393567.2	-	3	376	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	HYDIN_ENST00000321489.5_Missense_Mutation_p.E76K|HYDIN_ENST00000538248.1_Missense_Mutation_p.E103K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E93K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E76K|HYDIN_ENST00000393550.2_Missense_Mutation_p.E76K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E76K|HYDIN_ENST00000288168.10_Missense_Mutation_p.E93K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	76					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.E76K(4)		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)				TCTAAGAGTTCGATGATCTGT	0.468																																					p.E76K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G226A	16						.						169.0	151.0	157.0					16																	71218803		2198	4299	6497	69776304	SO:0001583	missense	54768	exon3			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.226G>A	16.37:g.71218803C>T	ENSP00000377197:p.Glu76Lys		69776304	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927616	0.73327	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.17370	5.38;3.54;3.52;3.52;3.53;3.54;3.16;2.28	5.86	3.91	0.45181	.	0.667620	0.11055	U	0.604588	T	0.36608	0.0973	M	0.73217	2.22	0.31277	N	0.691014	D;D;P;D;P	0.67145	0.996;0.996;0.948;0.996;0.77	P;D;P;D;B	0.63793	0.867;0.918;0.577;0.918;0.138	T	0.23440	-1.0188	10	0.30078	T	0.28	.	10.4921	0.44756	0.0:0.5218:0.4039:0.0743	.	103;93;93;76;76	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	K	76;76;76;76;76;103;93;93;76	ENSP00000377197:E76K;ENSP00000398544:E76K;ENSP00000394826:E76K;ENSP00000314736:E76K;ENSP00000444970:E103K;ENSP00000437341:E93K;ENSP00000288168:E93K;ENSP00000377181:E76K	ENSP00000288168:E93K	E	-	1	0	HYDIN	69776304	0.399000	0.25287	0.832000	0.32986	0.924000	0.55760	0.817000	0.27281	0.821000	0.34540	-0.136000	0.14681	GAA		0.468	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	71482693	71482693	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:71482693C>A	ENST00000393539.2	-	6	2048	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R412I|ZNF23_ENST00000428724.2_Missense_Mutation_p.R354I|ZNF23_ENST00000564528.1_Missense_Mutation_p.R354I|ZNF23_ENST00000357254.4_Missense_Mutation_p.R412I|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R412I(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)		TGTGTGAATTCTCTGGTGTTG	0.458																																					p.R412I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1235T	16						.						59.0	53.0	55.0					16																	71482693		2198	4300	6498	70040194	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.1235G>T	16.37:g.71482693C>A	ENSP00000377171:p.Arg412Ile		70040194	NM_145911	Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197587	0.58126	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000188	T	0.48660	0.1512	M	0.65975	2.015	0.49582	D	0.999802	D;D	0.89917	0.994;1.0	P;D	0.91635	0.863;0.999	T	0.51204	-0.8735	10	0.87932	D	0	-30.0404	14.7277	0.69357	0.0:1.0:0.0:0.0	.	412;412	B3KR55;P17027	.;ZNF23_HUMAN	I	412;412;412;354;354	ENSP00000377171:R412I;ENSP00000349796:R412I;ENSP00000395712:R412I;ENSP00000387673:R354I	ENSP00000349796:R412I	R	-	2	0	ZNF23	70040194	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	1.010000	0.29898	2.595000	0.87683	0.555000	0.69702	AGA		0.458	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911	
ADAMTS18	170692	broad.mit.edu	37	16	77353835	77353835	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:77353835C>T	ENST00000282849.5	-	16	2861	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	815	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A815T(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTGGTCCCAGCGAAGGGGAAC	0.577																																					p.A815T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2443A	16						.						60.0	58.0	59.0					16																	77353835		2198	4300	6498	75911336	SO:0001583	missense	170692	exon16			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2443G>A	16.37:g.77353835C>T	ENSP00000282849:p.Ala815Thr		75911336	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036634	0.93630	.	.	ENSG00000140873	ENST00000282849	T	0.54071	0.59	5.54	4.58	0.56647	ADAM-TS Spacer 1 (1);	0.121893	0.53938	D	0.000049	T	0.78355	0.4270	M	0.93375	3.41	0.58432	D	0.999997	D;D	0.76494	0.999;0.99	D;P	0.68353	0.957;0.869	D	0.84635	0.0692	10	0.72032	D	0.01	.	14.8208	0.70070	0.145:0.855:0.0:0.0	.	815;815	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	T	815	ENSP00000282849:A815T	ENSP00000282849:A815T	A	-	1	0	ADAMTS18	75911336	1.000000	0.71417	0.048000	0.18961	0.966000	0.64601	5.698000	0.68302	1.319000	0.45190	0.563000	0.77884	GCT		0.577	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
ADAMTS18	170692	broad.mit.edu	37	16	77387721	77387721	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:77387721T>G	ENST00000282849.5	-	10	1941	c.1523A>C	c.(1522-1524)gAc>gCc	p.D508A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	508	Disintegrin.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D508A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGTAGTTTGTCCGGATATTT	0.428																																					p.D508A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1523C	16						.						350.0	315.0	327.0					16																	77387721		2198	4300	6498	75945222	SO:0001583	missense	170692	exon10			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1523A>C	16.37:g.77387721T>G	ENSP00000282849:p.Asp508Ala		75945222	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.531481	0.45073	.	.	ENSG00000140873	ENST00000282849	T	0.03272	3.99	5.22	5.22	0.72569	Metallopeptidase, catalytic domain (1);	0.169099	0.50627	D	0.000105	T	0.03434	0.0099	N	0.25647	0.755	0.50632	D	0.999886	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.001	T	0.48080	-0.9066	10	0.11794	T	0.64	.	14.4909	0.67649	0.0:0.0:0.0:1.0	.	508;508	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	A	508	ENSP00000282849:D508A	ENSP00000282849:D508A	D	-	2	0	ADAMTS18	75945222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.436000	0.80404	2.200000	0.70718	0.524000	0.50904	GAC		0.428	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
CDH13	1012	broad.mit.edu	37	16	83520245	83520245	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:83520245G>A	ENST00000566620.1	+	7	1235	c.945G>A	c.(943-945)gcG>gcA	p.A315A	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.A362A|CDH13_ENST00000428848.3_Silent_p.A276A	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.A315A(2)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTCACCTGCGCTGCTGGACC	0.488																																					p.A315A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G945A	16						.						84.0	81.0	82.0					16																	83520245		2034	4207	6241	82077746	SO:0001819	synonymous_variant	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.945G>A	16.37:g.83520245G>A			82077746	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																				0.488	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
ATP2C2	9914	broad.mit.edu	37	16	84456274	84456274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:84456274G>T	ENST00000262429.4	+	9	903	c.814G>T	c.(814-816)Gaa>Taa	p.E272*	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.E272*	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	272					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E272*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCAGTTCGGAGAAGTGTTTAA	0.498																																					p.E272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G814T	16						.						193.0	194.0	194.0					16																	84456274		1885	4112	5997	83013775	SO:0001587	stop_gained	9914	exon9			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.814G>T	16.37:g.84456274G>T	ENSP00000262429:p.Glu272*		83013775	NM_014861	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	ENST00000262429.4	37	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	38	7.265832	0.98175	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	5.16	5.16	0.70880	.	0.080192	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	17.1945	0.86888	0.0:0.0:1.0:0.0	.	.	.	.	X	272;272;121	.	ENSP00000262429:E272X	E	+	1	0	ATP2C2	83013775	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	9.201000	0.95017	2.381000	0.81170	0.650000	0.86243	GAA		0.498	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861	
FAM92B	339145	broad.mit.edu	37	16	85135925	85135925	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:85135925A>C	ENST00000539556.1	-	7	701	c.546T>G	c.(544-546)ttT>ttG	p.F182L		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	182								p.F182L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CAAAGTCACAAAAAAATTTCT	0.507																																					p.F182L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T546G	16						.						56.0	56.0	56.0					16																	85135925		2198	4300	6498	83693426	SO:0001583	missense	339145	exon6				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.546T>G	16.37:g.85135925A>C	ENSP00000443411:p.Phe182Leu		83693426	NM_198491		Missense_Mutation	SNP	ENST00000539556.1	37	CCDS32500.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478898	0.26511	.	.	ENSG00000153789	ENST00000393246;ENST00000539556	T	0.56275	0.47	5.78	-4.24	0.03777	.	0.074089	0.56097	N	0.000032	T	0.35998	0.0951	L	0.37697	1.125	0.09310	N	1	B	0.27316	0.175	B	0.33339	0.162	T	0.39742	-0.9599	10	0.11182	T	0.66	-10.908	12.0023	0.53237	0.2021:0.1065:0.6913:0.0	.	182	Q6ZTR7	FA92B_HUMAN	L	182	ENSP00000443411:F182L	ENSP00000376937:F182L	F	-	3	2	FAM92B	83693426	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-0.139000	0.10358	-0.792000	0.04480	-0.451000	0.05528	TTT		0.507	FAM92B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198491	
ANKRD11	29123	broad.mit.edu	37	16	89349029	89349029	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:89349029G>A	ENST00000301030.4	-	9	4381	c.3921C>T	c.(3919-3921)agC>agT	p.S1307S	ANKRD11_ENST00000378330.2_Silent_p.S1307S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1307	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.S1307S(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)		GGTCCGTGAAGCTGTCAGAGG	0.582																																					p.S1307S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3921T	16						.						44.0	44.0	44.0					16																	89349029		2198	4300	6498	87876530	SO:0001819	synonymous_variant	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.3921C>T	16.37:g.89349029G>A			87876530	NM_013275	Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	CCDS32513.1																																																																																				0.582	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
GRIN2A	2903	broad.mit.edu	37	16	9857657	9857657	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:9857657G>A	ENST00000396573.2	-	14	4053	c.3744C>T	c.(3742-3744)atC>atT	p.I1248I	GRIN2A_ENST00000396575.2_Silent_p.I1248I|GRIN2A_ENST00000535259.1_Silent_p.I1091I|GRIN2A_ENST00000330684.3_Silent_p.I1248I|GRIN2A_ENST00000562109.1_Silent_p.I1248I|GRIN2A_ENST00000404927.2_Silent_p.I1248I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1248					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.I1248I(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)	GGTCTTCATCGATGTCATAGA	0.547																																					p.I1248I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3744T	16						.						121.0	113.0	116.0					16																	9857657		2197	4300	6497	9765158	SO:0001819	synonymous_variant	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3744C>T	16.37:g.9857657G>A			9765158	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.547	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
PRDM7	11105	broad.mit.edu	37	16	90126843	90126843	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr16:90126843G>A	ENST00000449207.2	-	9	1158	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	380					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)	p.A380V(1)		lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCAGTTCACAGCCTGGCCTAA	0.552																																					p.A380V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1139T	16						.						98.0	99.0	99.0					16																	90126843		1932	4137	6069	88654344	SO:0001583	missense	11105	exon9			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1139C>T	16.37:g.90126843G>A	ENSP00000396732:p.Ala380Val		88654344	NM_001098173	A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	8.846	0.943443	0.18281	.	.	ENSG00000126856	ENST00000449207	T	0.11495	2.77	2.07	0.823	0.18812	.	.	.	.	.	T	0.06096	0.0158	N	0.08118	0	0.80722	D	1	D	0.61080	0.989	P	0.48488	0.579	T	0.47873	-0.9083	8	.	.	.	-5.6063	5.6999	0.17877	0.0:0.3462:0.6538:0.0	.	380	Q9NQW5	PRDM7_HUMAN	V	380	ENSP00000396732:A380V	.	A	-	2	0	PRDM7	88654344	0.024000	0.19004	0.980000	0.43619	0.845000	0.48019	0.641000	0.24720	1.151000	0.42436	0.398000	0.26397	GCT		0.552	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1		
SEH1L	81929	broad.mit.edu	37	18	12984076	12984076	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:12984076G>T	ENST00000262124.11	+	8	1084	c.957G>T	c.(955-957)ttG>ttT	p.L319F	SEH1L_ENST00000592582.1_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000399892.2_Missense_Mutation_p.L319F	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	319					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.L319F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CTGGTATTTTGAAAGGTAATG	0.373																																					p.L319F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G957T	18						.						99.0	103.0	102.0					18																	12984076		2203	4300	6503	12974076	SO:0001583	missense	81929	exon8			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.957G>T	18.37:g.12984076G>T	ENSP00000262124:p.Leu319Phe		12974076	NM_001013437	A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527835	0.64860	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.68025	-0.3;-0.3	6.04	4.27	0.50696	WD40/YVTN repeat-like-containing domain (1);	0.063541	0.64402	D	0.000005	T	0.66127	0.2758	M	0.71581	2.175	0.52099	D	0.999943	B;B	0.33826	0.012;0.427	B;B	0.36808	0.03;0.233	T	0.66512	-0.5905	10	0.62326	D	0.03	-7.3081	10.7195	0.46032	0.0648:0.2468:0.6884:0.0	.	319;319	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	F	319	ENSP00000382779:L319F;ENSP00000262124:L319F	ENSP00000262124:L319F	L	+	3	2	SEH1L	12974076	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.505000	0.60421	0.895000	0.36342	-0.222000	0.12452	TTG		0.373	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216	
RNMT	8731	broad.mit.edu	37	18	13731605	13731605	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:13731605T>G	ENST00000383314.2	+	3	329	c.89T>G	c.(88-90)tTc>tGc	p.F30C	RNMT_ENST00000535051.1_Intron|RNMT_ENST00000592764.1_Missense_Mutation_p.F30C|RNMT_ENST00000543302.2_Missense_Mutation_p.F30C|RNMT_ENST00000262173.3_Missense_Mutation_p.F30C|RNMT_ENST00000589866.1_Missense_Mutation_p.F30C			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	30					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.F30C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GAGTCTTCATTCAATATTAAT	0.363																																					p.F30C	GBM(29;474 594 19092 36647 41529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T89G	18						.						107.0	120.0	116.0					18																	13731605		2203	4300	6503	13721605	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.89T>G	18.37:g.13731605T>G	ENSP00000372804:p.Phe30Cys		13721605	NM_003799	B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	5.727	0.318584	0.10845	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.23	-0.545	0.11843	.	1.206160	0.05829	N	0.617194	T	0.17066	0.0410	N	0.14661	0.345	0.09310	N	1	P;P	0.51351	0.944;0.681	B;B	0.44163	0.443;0.174	T	0.08764	-1.0706	9	0.38643	T	0.18	1.3669	1.0373	0.01551	0.3195:0.0941:0.1649:0.4215	.	30;30	O43148-2;O43148	.;MCES_HUMAN	C	30	.	ENSP00000262173:F30C	F	+	2	0	RNMT	13721605	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	0.055000	0.14229	0.047000	0.15862	0.533000	0.62120	TTC		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799	
MC5R	4161	broad.mit.edu	37	18	13825953	13825953	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:13825953G>T	ENST00000324750.3	+	1	411	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	63					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.K63N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATAGTGAAGAACAAAAACC	0.532																																					p.K63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G189T	18						.						122.0	116.0	118.0					18																	13825953		2203	4300	6503	13815953	SO:0001583	missense	4161	exon1			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.189G>T	18.37:g.13825953G>T	ENSP00000318077:p.Lys63Asn		13815953	NM_005913	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781587	0.49891	.	.	ENSG00000176136	ENST00000324750	T	0.00567	6.54	5.01	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.046425	0.85682	D	0.000000	T	0.02888	0.0086	H	0.94808	3.585	0.58432	D	0.999997	D	0.67145	0.996	D	0.65773	0.938	T	0.11227	-1.0596	10	0.87932	D	0	.	11.0517	0.47894	0.1575:0.0:0.8425:0.0	.	63	P33032	MC5R_HUMAN	N	63	ENSP00000318077:K63N	ENSP00000318077:K63N	K	+	3	2	MC5R	13815953	1.000000	0.71417	0.995000	0.50966	0.494000	0.33585	2.010000	0.40913	1.065000	0.40693	0.455000	0.32223	AAG		0.532	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
ROCK1	6093	broad.mit.edu	37	18	18690795	18690795	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:18690795T>G	ENST00000399799.2	-	1	1017	c.77A>C	c.(76-78)aAt>aCt	p.N26T		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	26					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N26T(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACAATCCGAATTCACTTCCGA	0.478																																					p.N26T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A77C	18						.						227.0	201.0	210.0					18																	18690795		2203	4300	6503	16944793	SO:0001583	missense	6093	exon1				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.77A>C	18.37:g.18690795T>G	ENSP00000382697:p.Asn26Thr		16944793	NM_005406	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404809	0.83230	.	.	ENSG00000067900	ENST00000399799	T	0.65549	-0.16	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.83603	2.65	0.54753	D	0.999984	D	0.76494	0.999	P	0.61800	0.894	T	0.82084	-0.0632	10	0.87932	D	0	.	13.9814	0.64306	0.0:0.0:0.0:1.0	.	26	Q13464	ROCK1_HUMAN	T	26	ENSP00000382697:N26T	ENSP00000382697:N26T	N	-	2	0	ROCK1	16944793	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.802000	0.69122	2.127000	0.65507	0.533000	0.62120	AAT		0.478	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
ESCO1	114799	broad.mit.edu	37	18	19153782	19153782	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:19153782C>A	ENST00000269214.5	-	4	1960	c.1023G>T	c.(1021-1023)ttG>ttT	p.L341F		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	341					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.L341F(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGGTCTCTTCCAATTTTATTT	0.348																																					p.L341F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1023T	18						.						122.0	123.0	123.0					18																	19153782		2203	4300	6503	17407780	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.1023G>T	18.37:g.19153782C>A	ENSP00000269214:p.Leu341Phe		17407780	NM_052911	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163317	0.38217	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.65364	-0.15;1.35	5.74	2.98	0.34508	.	0.000000	0.47852	D	0.000217	T	0.63379	0.2506	M	0.64997	1.995	0.28976	N	0.888967	D	0.56746	0.977	P	0.52267	0.694	T	0.59768	-0.7392	10	0.51188	T	0.08	-0.5787	6.0635	0.19850	0.1358:0.6559:0.0:0.2083	.	341	Q5FWF5	ESCO1_HUMAN	F	341	ENSP00000269214:L341F;ENSP00000372763:L341F	ENSP00000269214:L341F	L	-	3	2	ESCO1	17407780	0.200000	0.23398	0.999000	0.59377	0.768000	0.43524	-0.023000	0.12456	0.772000	0.33382	0.655000	0.94253	TTG		0.348	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
ZNF521	25925	broad.mit.edu	37	18	22804543	22804543	+	Silent	SNP	C	C	A	rs149562357		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:22804543C>A	ENST00000361524.3	-	4	3487	c.3339G>T	c.(3337-3339)acG>acT	p.T1113T	ZNF521_ENST00000584787.1_Silent_p.T893T|ZNF521_ENST00000538137.2_Silent_p.T1113T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					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.T1113T(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)					CTGGTCTATTCGTGCCGGGAG	0.547			T	PAX5	ALL																																p.T1113T			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3339T	18						.						106.0	95.0	99.0					18																	22804543		2203	4300	6503	21058541	SO:0001819	synonymous_variant	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.3339G>T	18.37:g.22804543C>A			21058541	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	CCDS32806.1																																																																																				0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
CHST9	83539	broad.mit.edu	37	18	24497266	24497266	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:24497266G>T	ENST00000284224.8	-	6	566	c.289C>A	c.(289-291)Ctt>Att	p.L97I	CHST9_ENST00000581714.1_Missense_Mutation_p.L97I|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	97					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.L97I(1)|p.L12I(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)					TTGAGTAGAAGATTTTCCTTT	0.413																																					p.L97I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C289A	18						.						206.0	186.0	192.0					18																	24497266		1852	4087	5939	22751264	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.289C>A	18.37:g.24497266G>T	ENSP00000284224:p.Leu97Ile		22751264	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400452	0.25291	.	.	ENSG00000154080	ENST00000284224	T	0.65549	-0.16	5.36	-0.153	0.13403	.	2.395520	0.01510	N	0.017876	T	0.41003	0.1140	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09952	-1.0651	10	0.22706	T	0.39	-0.0457	0.1921	0.00135	0.2522:0.1837:0.2095:0.3546	.	97	Q7L1S5	CHST9_HUMAN	I	97	ENSP00000284224:L97I	ENSP00000284224:L97I	L	-	1	0	CHST9	22751264	0.004000	0.15560	0.002000	0.10522	0.210000	0.24377	0.434000	0.21494	0.057000	0.16193	-0.181000	0.13052	CTT		0.413	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
DSC1	1823	broad.mit.edu	37	18	28714673	28714673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:28714673C>A	ENST00000257198.5	-	12	1999	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Nonsense_Mutation_p.E580*	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	580	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E580*(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)			ATGGTCACTTCTTTGTCAATT	0.363																																					p.E580X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1738T	18						.						81.0	72.0	75.0					18																	28714673		2203	4300	6503	26968671	SO:0001587	stop_gained	1823	exon12			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.1738G>T	18.37:g.28714673C>A	ENSP00000257198:p.Glu580*		26968671	NM_004948	Q9HB01	Nonsense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	37	6.453685	0.97581	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	.	.	.	5.57	2.76	0.32466	.	0.789852	0.11299	N	0.578457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.8527	0.18701	0.0:0.6268:0.1516:0.2215	.	.	.	.	X	580	.	ENSP00000257197:E580X	E	-	1	0	DSC1	26968671	0.016000	0.18221	0.011000	0.14972	0.570000	0.35934	0.149000	0.16243	0.814000	0.34374	0.591000	0.81541	GAA		0.363	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSG4	147409	broad.mit.edu	37	18	28972226	28972226	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:28972226C>A	ENST00000308128.4	+	8	1063	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L310I	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L310I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATATTTAATTCTCTCTGGAAA	0.358																																					p.L310I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C928A	18						.						105.0	104.0	105.0					18																	28972226		2203	4300	6503	27226224	SO:0001583	missense	147409	exon8			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.928C>A	18.37:g.28972226C>A	ENSP00000311859:p.Leu310Ile		27226224	NM_001134453	A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395536	0.25205	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56611	0.45;0.45	5.44	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.29814	N	0.011140	T	0.19167	0.0460	N	0.00729	-1.24	0.32892	D	0.511996	B;B	0.20261	0.043;0.007	B;B	0.27380	0.079;0.028	T	0.30357	-0.9981	10	0.13853	T	0.58	.	7.9024	0.29742	0.1965:0.5155:0.288:0.0	.	310;310	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	I	310	ENSP00000311859:L310I;ENSP00000352785:L310I	ENSP00000311859:L310I	L	+	1	0	DSG4	27226224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.082000	0.30803	2.716000	0.92895	0.650000	0.86243	CTC		0.358	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
GAREM	64762	broad.mit.edu	37	18	29867438	29867438	+	Silent	SNP	G	G	A	rs138770869	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:29867438G>A	ENST00000269209.6	-	4	1125	c.1122C>T	c.(1120-1122)taC>taT	p.Y374Y	GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Silent_p.Y374Y			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	374					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.Y374Y(1)									CATCGCGGGCGTAGCTGAGCG	0.567													G|||	6	0.00119808	0.0045	0.0	5008	,	,		19394	0.0		0.0	False		,,,				2504	0.0				p.Y374Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122T	18						.	G	,	2,4404	4.2+/-10.8	0,2,2201	100.0	98.0	98.0		1122,1122	-8.8	0.4	18	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FAM59A	NM_001242409.1,NM_022751.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	374/877,374/876	29867438	2,13004	2203	4300	6503	28121436	SO:0001819	synonymous_variant	64762	exon4			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1122C>T	18.37:g.29867438G>A			28121436	NM_022751	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	CCDS56057.1																																																																																				0.567	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751	
ASXL3	80816	broad.mit.edu	37	18	31324231	31324231	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:31324231C>A	ENST00000269197.5	+	12	4419	c.4419C>A	c.(4417-4419)gtC>gtA	p.V1473V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1473					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.V1473V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGTGTAAAGTCATCGTTGACC	0.532											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V1473V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4419A	18						.						72.0	78.0	76.0					18																	31324231		2203	4299	6502	29578229	SO:0001819	synonymous_variant	80816	exon12			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4419C>A	18.37:g.31324231C>A		823	29578229	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	CCDS45847.1																																																																																				0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
ZSCAN30	100101467	broad.mit.edu	37	18	32833937	32833937	+	Missense_Mutation	SNP	C	C	A	rs200243252	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:32833937C>A	ENST00000420878.3	-	5	1417	c.962G>T	c.(961-963)aGa>aTa	p.R321I	ZSCAN30_ENST00000333206.5_Missense_Mutation_p.R321I|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	321					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.R321I(1)		large_intestine(5)|lung(3)|urinary_tract(1)	9						AGTATGAATTCTCTGATGTCT	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		22239	0.002		0.0	False		,,,				2504	0.0				p.R321I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G962T	18						.						99.0	90.0	93.0					18																	32833937		1568	3582	5150	31087935	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.962G>T	18.37:g.32833937C>A	ENSP00000392371:p.Arg321Ile		31087935	NM_001112734	B4E0N0|Q6ZNB3|Q96PN3	Missense_Mutation	SNP	ENST00000420878.3	37	CCDS42427.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	18.84	3.709069	0.68615	.	.	ENSG00000186814	ENST00000420878;ENST00000333206;ENST00000360932	T;T	0.24908	1.83;1.83	4.5	4.5	0.54988	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38959	N	0.001502	T	0.34019	0.0883	M	0.68952	2.095	0.80722	D	1	D	0.59357	0.985	P	0.49361	0.608	T	0.09185	-1.0686	10	0.54805	T	0.06	.	10.1691	0.42900	0.1989:0.8011:0.0:0.0	.	321	Q86W11	ZSC30_HUMAN	I	321;321;256	ENSP00000392371:R321I;ENSP00000329738:R321I	ENSP00000329738:R321I	R	-	2	0	ZSCAN30	31087935	0.051000	0.20477	1.000000	0.80357	0.995000	0.86356	1.849000	0.39318	2.480000	0.83734	0.643000	0.83706	AGA		0.428	ZSCAN30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442510.1	NM_001112734	
MOCOS	55034	broad.mit.edu	37	18	33793366	33793366	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:33793366G>A	ENST00000261326.5	+	7	1277	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.R419Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATCCACCTGCGAACTGGCTGC	0.498																																					p.R419Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1256A	18						.						70.0	62.0	65.0					18																	33793366		2203	4300	6503	32047364	SO:0001583	missense	55034	exon7			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1256G>A	18.37:g.33793366G>A	ENSP00000261326:p.Arg419Gln		32047364	NM_017947		Missense_Mutation	SNP	ENST00000261326.5	37	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657160	0.88154	.	.	ENSG00000075643	ENST00000261326	D	0.88896	-2.44	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.96256	0.8779	H	0.96365	3.81	0.51767	D	0.999939	D	0.89917	1.0	D	0.85130	0.997	D	0.97216	0.9874	10	0.87932	D	0	-14.882	15.0208	0.71630	0.0:0.0:1.0:0.0	.	419	Q96EN8	MOCOS_HUMAN	Q	419	ENSP00000261326:R419Q	ENSP00000261326:R419Q	R	+	2	0	MOCOS	32047364	1.000000	0.71417	0.987000	0.45799	0.464000	0.32679	9.452000	0.97615	2.619000	0.88677	0.555000	0.69702	CGA		0.498	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1		
SETBP1	26040	broad.mit.edu	37	18	42531727	42531727	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:42531727C>A	ENST00000282030.5	+	4	2718	c.2422C>A	c.(2422-2424)Ctc>Atc	p.L808I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	808						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L754I(1)|p.L808I(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)		TATGCCAAATCTCCAGCCCAT	0.498									Schinzel-Giedion syndrome																												p.L808I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2422A	18						.						65.0	65.0	65.0					18																	42531727		2203	4300	6503	40785725	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.2422C>A	18.37:g.42531727C>A	ENSP00000282030:p.Leu808Ile		40785725	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197710	0.58126	.	.	ENSG00000152217	ENST00000282030	D	0.90620	-2.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	N	0.19112	0.55	0.37400	D	0.912795	D	0.76494	0.999	D	0.73380	0.98	D	0.93675	0.6993	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	808	Q9Y6X0	SETBP_HUMAN	I	808	ENSP00000282030:L808I	ENSP00000282030:L808I	L	+	1	0	SETBP1	40785725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.986000	0.70563	2.941000	0.99782	0.655000	0.94253	CTC		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
EPG5	57724	broad.mit.edu	37	18	43459165	43459165	+	Missense_Mutation	SNP	T	T	C	rs372631564		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:43459165T>C	ENST00000282041.5	-	33	5716	c.5682A>G	c.(5680-5682)atA>atG	p.I1894M	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1894					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.I1894M(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAAGCCACTGTATAGTCTCCA	0.343																																					p.I1894M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5682G	18						.	T	MET/ILE	0,3604		0,0,1802	57.0	55.0	56.0		5682	-1.2	1.0	18		56	1,8137		0,1,4068	no	missense	EPG5	NM_020964.2	10	0,1,5870	CC,CT,TT		0.0123,0.0,0.0085	possibly-damaging	1894/2580	43459165	1,11741	1802	4069	5871	41713163	SO:0001583	missense	57724	exon33			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.5682A>G	18.37:g.43459165T>C	ENSP00000282041:p.Ile1894Met		41713163	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817440	0.50633	0.0	1.23E-4	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11277	2.79	4.67	-1.25	0.09405	.	.	.	.	.	T	0.13756	0.0333	L	0.46157	1.445	0.39665	D	0.970663	P	0.46512	0.879	P	0.51385	0.668	T	0.19257	-1.0311	9	0.56958	D	0.05	-9.0854	6.3982	0.21624	0.4548:0.0:0.2352:0.31	.	1894	Q9HCE0	EPG5_HUMAN	M	1894;769	ENSP00000282041:I1894M	ENSP00000282041:I1894M	I	-	3	3	EPG5	41713163	0.262000	0.24073	0.981000	0.43875	0.900000	0.52787	-0.723000	0.04952	-0.049000	0.13379	-0.433000	0.05886	ATA		0.343	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
TCEB3B	51224	broad.mit.edu	37	18	44560390	44560390	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:44560390C>T	ENST00000332567.4	-	1	1598	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	416					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E416K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTGGATTCGTTTGCTTTC	0.507																																					p.E416K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1246A	18						.						113.0	99.0	104.0					18																	44560390		2203	4300	6503	42814388	SO:0001583	missense	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1246G>A	18.37:g.44560390C>T	ENSP00000331302:p.Glu416Lys		42814388	NM_016427	Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	7.702	0.693246	0.15039	.	.	ENSG00000206181	ENST00000332567	T	0.06608	3.28	2.19	-1.07	0.09968	.	4.080680	0.02912	U	0.136767	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35525	-0.9785	10	0.05833	T	0.94	.	5.2426	0.15479	0.2203:0.3461:0.4336:0.0	.	416	Q8IYF1	ELOA2_HUMAN	K	416	ENSP00000331302:E416K	ENSP00000331302:E416K	E	-	1	0	TCEB3B	42814388	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.385000	0.07379	-0.285000	0.09089	-0.257000	0.10917	GAA		0.507	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
KATNAL2	83473	broad.mit.edu	37	18	44584718	44584718	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:44584718A>C	ENST00000245121.5	+	4	423	c.229A>C	c.(229-231)Aat>Cat	p.N77H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.N149H	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2									p.N77H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GGAGCATCCTAATCAGGTCAG	0.458																																					p.N77H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A229C	18						.						84.0	82.0	83.0					18																	44584718		2203	4300	6503	42838716	SO:0001583	missense	83473	exon4			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.229A>C	18.37:g.44584718A>C	ENSP00000245121:p.Asn77His		42838716	NM_031303		Missense_Mutation	SNP	ENST00000245121.5	37	CCDS32828.1	.	.	.	.	.	.	.	.	.	.	A	8.736	0.917844	0.17982	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93547	-3.24;-3.24	5.35	2.98	0.34508	.	0.573895	0.19374	N	0.115838	D	0.83321	0.5229	N	0.08118	0	0.20074	N	0.999939	B	0.12013	0.005	B	0.08055	0.003	T	0.72404	-0.4304	10	0.44086	T	0.13	-1.7133	7.6972	0.28602	0.83:0.0:0.17:0.0	.	149	Q8IYT4	KATL2_HUMAN	H	149;77	ENSP00000348478:N149H;ENSP00000245121:N77H	ENSP00000245121:N77H	N	+	1	0	KATNAL2	42838716	0.993000	0.37304	0.328000	0.25416	0.864000	0.49448	3.466000	0.53071	0.363000	0.24346	0.459000	0.35465	AAT		0.458	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446138.2	NM_031303	
MBD2	8932	broad.mit.edu	37	18	51731393	51731393	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:51731393C>T	ENST00000256429.3	-	2	905	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	MBD2_ENST00000583046.1_Missense_Mutation_p.R226Q|MBD2_ENST00000398398.2_Missense_Mutation_p.R226Q	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	226					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)	p.R226Q(1)		breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		AGGATCGTTTCGCAGTCTCTG	0.363																																					p.R226Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	18						.						292.0	273.0	280.0					18																	51731393		2203	4300	6503	49985391	SO:0001583	missense	8932	exon2			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.677G>A	18.37:g.51731393C>T	ENSP00000256429:p.Arg226Gln		49985391	NM_015832	O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550478	0.65311	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.96619	-4.07;-4.07	5.78	5.78	0.91487	Methyl-CpG DNA binding (1);DNA-binding, integrase-type (1);	0.000000	0.64402	D	0.000003	D	0.97059	0.9039	L	0.43923	1.385	0.49299	D	0.999773	D;P	0.89917	1.0;0.899	D;B	0.85130	0.997;0.372	D	0.95840	0.8865	10	0.27785	T	0.31	-17.5094	18.7852	0.91952	0.0:1.0:0.0:0.0	.	226;226	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	Q	226	ENSP00000256429:R226Q;ENSP00000381435:R226Q	ENSP00000256429:R226Q	R	-	2	0	MBD2	49985391	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.622000	0.83099	2.739000	0.93911	0.643000	0.83706	CGA		0.363	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927	
C18orf54	162681	broad.mit.edu	37	18	51900601	51900601	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:51900601C>A	ENST00000300091.5	+	7	1325	c.993C>A	c.(991-993)ttC>ttA	p.F331L	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Missense_Mutation_p.F492L|C18orf54_ENST00000578138.1_Missense_Mutation_p.F110L	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	331						extracellular region (GO:0005576)		p.F331L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AAGATGATTTCTCTAAATTAC	0.249																																					p.F331L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C993A	18						.						33.0	37.0	36.0					18																	51900601		2185	4255	6440	50154599	SO:0001583	missense	162681	exon7			AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"""lung adenoma susceptibility protein 2"""	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.993C>A	18.37:g.51900601C>A	ENSP00000300091:p.Phe331Leu		50154599	NM_173529	I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.504523	0.26949	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.14391	2.51;2.51	5.2	0.31	0.15825	.	1.170710	0.05950	N	0.638513	T	0.06781	0.0173	N	0.12471	0.22	0.09310	N	0.999993	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.41197	-0.9522	10	0.11794	T	0.64	.	4.8849	0.13697	0.0:0.2272:0.1772:0.5956	.	492;331	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	L	331;492	ENSP00000300091:F331L;ENSP00000372368:F492L	ENSP00000300091:F331L	F	+	3	2	C18orf54	50154599	0.802000	0.28943	0.950000	0.38849	0.952000	0.60782	-0.348000	0.07740	-0.024000	0.13941	0.585000	0.79938	TTC		0.249	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529	
CCDC68	80323	broad.mit.edu	37	18	52575087	52575087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:52575087C>A	ENST00000591504.1	-	11	1154	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	CCDC68_ENST00000432185.1_Nonsense_Mutation_p.E294*|CCDC68_ENST00000337363.4_Nonsense_Mutation_p.E294*	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	294								p.E294*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTTTTTAGTTCTTTATTCTAA	0.408																																					p.E294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G880T	18						.						126.0	123.0	124.0					18																	52575087		2203	4300	6503	50726085	SO:0001587	stop_gained	80323	exon11				CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.880G>T	18.37:g.52575087C>A	ENSP00000466690:p.Glu294*		50726085	NM_001143829	B2R9I3	Nonsense_Mutation	SNP	ENST00000591504.1	37	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	C	37	6.499095	0.97616	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	.	.	.	5.51	5.51	0.81932	.	0.105580	0.42548	D	0.000682	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.51	15.2741	0.73728	0.0:1.0:0.0:0.0	.	.	.	.	X	294	.	ENSP00000337209:E294X	E	-	1	0	CCDC68	50726085	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.381000	0.52455	2.738000	0.93877	0.655000	0.94253	GAA		0.408	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214	
TCF4	6925	broad.mit.edu	37	18	52937154	52937154	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:52937154A>C	ENST00000356073.4	-	11	1441	c.830T>G	c.(829-831)cTt>cGt	p.L277R	TCF4_ENST00000566279.1_Missense_Mutation_p.L217R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000540999.1_Missense_Mutation_p.L253R|TCF4_ENST00000570287.2_Missense_Mutation_p.L117R|TCF4_ENST00000537578.1_Missense_Mutation_p.L253R|TCF4_ENST00000544241.2_Missense_Mutation_p.L206R|TCF4_ENST00000564403.2_Missense_Mutation_p.L283R|TCF4_ENST00000398339.1_Missense_Mutation_p.L379R|TCF4_ENST00000561831.3_Missense_Mutation_p.L117R|TCF4_ENST00000570177.2_Missense_Mutation_p.L147R|TCF4_ENST00000566286.1_Missense_Mutation_p.L275R|TCF4_ENST00000537856.3_Missense_Mutation_p.L147R|TCF4_ENST00000568740.1_Missense_Mutation_p.L252R|TCF4_ENST00000568673.1_Missense_Mutation_p.L253R|TCF4_ENST00000564999.1_Missense_Mutation_p.L277R|TCF4_ENST00000354452.3_Missense_Mutation_p.L277R|TCF4_ENST00000561992.1_Missense_Mutation_p.L147R|TCF4_ENST00000567880.1_Missense_Mutation_p.L217R|TCF4_ENST00000457482.3_Missense_Mutation_p.L117R|TCF4_ENST00000565018.2_Missense_Mutation_p.L277R|TCF4_ENST00000543082.1_Missense_Mutation_p.L235R|TCF4_ENST00000564228.1_Missense_Mutation_p.L206R	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	277					DNA-templated transcription, initiation (GO:0006352)|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)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.L277R(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CATCGGAGGAAGACTGGAATT	0.443																																					p.L277R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T830G	18						.						180.0	153.0	162.0					18																	52937154		2203	4300	6503	51088152	SO:0001583	missense	6925	exon11			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.830T>G	18.37:g.52937154A>C	ENSP00000348374:p.Leu277Arg		51088152	NM_001083962	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960975	0.92791	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.999;0.998;0.999;1.0;1.0;0.991;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.973;0.997;0.985;0.978;0.979;0.972;0.987;0.944;0.975;0.984	T	0.81577	-0.0869	10	0.87932	D	0	-6.4758	15.1189	0.72426	1.0:0.0:0.0:0.0	.	253;277;253;117;379;277;235;206;117;275	B7Z5M6;G0LNT9;B7Z6Y1;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;.;ITF2_HUMAN;.;.;.;.	R	277;117;277;235;253;253;206;147;379	ENSP00000346440:L277R;ENSP00000409447:L117R;ENSP00000348374:L277R;ENSP00000439656:L235R;ENSP00000445202:L253R;ENSP00000440731:L253R;ENSP00000441562:L206R;ENSP00000439827:L147R;ENSP00000381382:L379R	ENSP00000346440:L277R	L	-	2	0	TCF4	51088152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.514000	0.90545	2.207000	0.71202	0.377000	0.23210	CTT		0.443	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
NARS	4677	broad.mit.edu	37	18	55273959	55273959	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:55273959A>G	ENST00000256854.5	-	10	1481	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C	NARS_ENST00000423481.2_Silent_p.C93C	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	342					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.C342C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAGGAAAGGACACTCAGCTT	0.473																																					p.C342C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1026C	18						.						183.0	151.0	162.0					18																	55273959		2203	4300	6503	53424957	SO:0001819	synonymous_variant	4677	exon10			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1026T>C	18.37:g.55273959A>G			53424957	NM_004539	B4DG16|Q53GU6	Silent	SNP	ENST00000256854.5	37	CCDS32837.1																																																																																				0.473	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449872.2	NM_004539	
ATP8B1	5205	broad.mit.edu	37	18	55319293	55319293	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:55319293G>T	ENST00000283684.4	-	25	3372	c.3373C>A	c.(3373-3375)Ctc>Atc	p.L1125I	ATP8B1_ENST00000536015.1_Missense_Mutation_p.L1125I|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1125					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.L1125I(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)				GATGGAAAGAGAACATGTATT	0.308																																					p.L1125I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3373A	18						.						82.0	78.0	79.0					18																	55319293		2203	4300	6503	53470291	SO:0001583	missense	5205	exon26			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.3373C>A	18.37:g.55319293G>T	ENSP00000283684:p.Leu1125Ile		53470291	NM_005603	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	5.975	0.363907	0.11296	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.89050	-2.46;-2.46	5.7	4.8	0.61643	.	0.199921	0.45126	N	0.000385	T	0.79787	0.4506	N	0.21194	0.64	0.47374	D	0.999406	B	0.10296	0.003	B	0.09377	0.004	T	0.72587	-0.4248	10	0.02654	T	1	.	15.6861	0.77411	0.0:0.0:0.8532:0.1468	.	1125	O43520	AT8B1_HUMAN	I	1125	ENSP00000283684:L1125I;ENSP00000445359:L1125I	ENSP00000283684:L1125I	L	-	1	0	ATP8B1	53470291	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	2.917000	0.48821	1.319000	0.45190	0.655000	0.94253	CTC		0.308	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	
MC4R	4160	broad.mit.edu	37	18	58039221	58039221	+	Missense_Mutation	SNP	A	A	C	rs13447330		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:58039221A>C	ENST00000299766.3	-	1	780	c.362T>G	c.(361-363)aTt>aGt	p.I121S		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	121					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.I121S(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GACATTATCAATATTCACTGT	0.423																																					p.I121S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T362G	18	GRCh37	CM032286	MC4R	M	rs13447330	.						101.0	90.0	94.0					18																	58039221		2203	4300	6503	56190201	SO:0001583	missense	4160	exon1			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.362T>G	18.37:g.58039221A>C	ENSP00000299766:p.Ile121Ser		56190201	NM_005912	B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961619	0.74016	.	.	ENSG00000166603	ENST00000299766	T	0.36878	1.23	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.091092	0.85682	D	0.000000	T	0.54078	0.1836	M	0.80847	2.515	0.58432	D	0.99999	P	0.45212	0.853	P	0.51297	0.665	T	0.60429	-0.7265	10	0.87932	D	0	.	13.9343	0.64015	1.0:0.0:0.0:0.0	.	121	P32245	MC4R_HUMAN	S	121	ENSP00000299766:I121S	ENSP00000299766:I121S	I	-	2	0	MC4R	56190201	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.339000	0.96797	2.186000	0.69663	0.533000	0.62120	ATT		0.423	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
CDH20	28316	broad.mit.edu	37	18	59203827	59203827	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:59203827C>A	ENST00000262717.4	+	8	1771	c.1373C>A	c.(1372-1374)tCt>tAt	p.S458Y	CDH20_ENST00000538374.1_Missense_Mutation_p.S458Y|CDH20_ENST00000536675.2_Missense_Mutation_p.S458Y			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	458	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.S458Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAAGAATTTTCTTGGCATAAT	0.408																																					p.S458Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1373A	18						.						120.0	120.0	120.0					18																	59203827		2203	4300	6503	57354807	SO:0001583	missense	28316	exon7			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1373C>A	18.37:g.59203827C>A	ENSP00000262717:p.Ser458Tyr		57354807	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038185	0.54896	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.62639	0.01;0.01;0.01	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.236222	0.44688	D	0.000425	T	0.75273	0.3827	M	0.85197	2.74	0.47183	D	0.99934	B	0.27013	0.166	B	0.40101	0.319	T	0.76484	-0.2942	10	0.62326	D	0.03	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	458	Q9HBT6	CAD20_HUMAN	Y	458	ENSP00000444767:S458Y;ENSP00000442226:S458Y;ENSP00000262717:S458Y	ENSP00000262717:S458Y	S	+	2	0	CDH20	57354807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.733000	0.62036	2.599000	0.87857	0.542000	0.68232	TCT		0.408	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
TNFRSF11A	8792	broad.mit.edu	37	18	60015457	60015457	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:60015457A>G	ENST00000586569.1	+	2	170	c.132A>G	c.(130-132)ggA>ggG	p.G44G	TNFRSF11A_ENST00000269485.7_Silent_p.G44G	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	44					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.G44G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGCATCTGGGACGGTGCTGTA	0.493																																					p.G44G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A132G	18						.						146.0	120.0	129.0					18																	60015457		2203	4300	6503	58166437	SO:0001819	synonymous_variant	8792	exon2			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.132A>G	18.37:g.60015457A>G			58166437	NM_003839	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																				0.493	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
SERPINB12	89777	broad.mit.edu	37	18	61232724	61232724	+	Missense_Mutation	SNP	G	G	T	rs34833530		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:61232724G>T	ENST00000269491.1	+	6	692	c.692G>T	c.(691-693)aGa>aTa	p.R231I	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R251I	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	231					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R231I(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGCCTCTACAGAATTGGCTTC	0.473																																					p.R231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692T	18						.						150.0	134.0	139.0					18																	61232724		2203	4300	6503	59383704	SO:0001583	missense	89777	exon6			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.692G>T	18.37:g.61232724G>T	ENSP00000269491:p.Arg231Ile		59383704	NM_080474	Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707356	0.30322	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84730	-1.89;-1.89	5.35	0.483	0.16820	Serpin domain (3);	0.508110	0.21035	N	0.081277	D	0.90349	0.6980	M	0.82716	2.605	0.21020	N	0.99981	D;D	0.60160	0.987;0.966	P;P	0.62885	0.908;0.837	D	0.83571	0.0112	10	0.59425	D	0.04	.	11.0541	0.47907	0.5384:0.0:0.4616:0.0	.	251;231	Q3SYB4;Q96P63	.;SPB12_HUMAN	I	231;251	ENSP00000269491:R231I;ENSP00000372218:R251I	ENSP00000269491:R231I	R	+	2	0	SERPINB12	59383704	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.135000	0.15952	-0.122000	0.11766	-0.145000	0.13849	AGA		0.473	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
SERPINB13	5275	broad.mit.edu	37	18	61261696	61261696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:61261696G>T	ENST00000344731.5	+	6	682	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.E194*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	194					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E194*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GTTTAAGAAAGAAAATACTAA	0.393																																					p.E194X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G580T	18						.						92.0	90.0	91.0					18																	61261696		2203	4300	6503	59412676	SO:0001587	stop_gained	5275	exon6			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.580G>T	18.37:g.61261696G>T	ENSP00000341584:p.Glu194*		59412676	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Nonsense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	37	6.154267	0.97329	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	.	.	.	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	.	.	.	X	194;112;194	.	ENSP00000269489:E194X	E	+	1	0	SERPINB13	59412676	0.008000	0.16893	1.000000	0.80357	0.996000	0.88848	1.474000	0.35398	2.854000	0.98071	0.655000	0.94253	GAA		0.393	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
LAMA1	284217	broad.mit.edu	37	18	6959369	6959369	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:6959369C>T	ENST00000389658.3	-	54	7842	c.7749G>A	c.(7747-7749)gcG>gcA	p.A2583A	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2583	Laminin G-like 3. {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.A2583A(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)				AGATGGAATGCGCTTGTCCAT	0.562																																					p.A2583A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7749A	18						.						161.0	132.0	142.0					18																	6959369		2203	4300	6503	6949369	SO:0001819	synonymous_variant	284217	exon54			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.7749G>A	18.37:g.6959369C>T			6949369	NM_005559		Silent	SNP	ENST00000389658.3	37	CCDS32787.1																																																																																				0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
RTTN	25914	broad.mit.edu	37	18	67817852	67817852	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:67817852C>T	ENST00000255674.6	-	15	2333	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	RTTN_ENST00000454359.1_Missense_Mutation_p.E683K|RTTN_ENST00000437017.1_Missense_Mutation_p.E683K	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	683					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.E683K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCTCACTTTCGGGCTCTTGA	0.338																																					p.E683K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2047A	18						.						102.0	101.0	101.0					18																	67817852		1817	4079	5896	65968832	SO:0001583	missense	25914	exon15			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2047G>A	18.37:g.67817852C>T	ENSP00000255674:p.Glu683Lys		65968832	NM_173630	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	2.189	-0.385805	0.04966	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64618	3.53;-0.11;-0.11	5.55	2.93	0.34026	Armadillo-type fold (1);	0.195181	0.48286	N	0.000191	T	0.17789	0.0427	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39941	-0.9589	10	0.02654	T	1	.	8.1482	0.31124	0.0:0.071:0.3675:0.5615	.	683	Q86VV8	RTTN_HUMAN	K	683	ENSP00000255674:E683K;ENSP00000402352:E683K;ENSP00000399520:E683K	ENSP00000255674:E683K	E	-	1	0	RTTN	65968832	0.052000	0.20516	0.893000	0.35052	0.685000	0.39939	-0.061000	0.11693	0.364000	0.24374	-0.360000	0.07572	GAA		0.338	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	
ZNF407	55628	broad.mit.edu	37	18	72343698	72343698	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:72343698G>T	ENST00000299687.5	+	1	723	c.723G>T	c.(721-723)caG>caT	p.Q241H	ZNF407_ENST00000309902.6_Missense_Mutation_p.Q241H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q241H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q241H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	241					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.Q241H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATGGGCCACAGAAGGTCTTTT	0.448																																					p.Q241H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G723T	18						.						137.0	140.0	139.0					18																	72343698		2056	4214	6270	70472686	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.723G>T	18.37:g.72343698G>T	ENSP00000299687:p.Gln241His		70472686	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021582	0.19433	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.15372	2.43;2.43	5.3	1.29	0.21616	Zinc finger, U1-type (1);	1.276180	0.06487	U	0.733928	T	0.16938	0.0407	L	0.47016	1.485	0.09310	N	1	B;B;B	0.14438	0.004;0.01;0.006	B;B;B	0.16289	0.01;0.015;0.005	T	0.33675	-0.9859	10	0.59425	D	0.04	.	7.2177	0.25969	0.0726:0.4969:0.3137:0.1168	.	241;241;241	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	241	ENSP00000299687:Q241H;ENSP00000310359:Q241H	ENSP00000299687:Q241H	Q	+	3	2	ZNF407	70472686	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	0.017000	0.13399	0.408000	0.25621	0.533000	0.62120	CAG		0.448	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72344389	72344389	+	Missense_Mutation	SNP	G	G	A	rs199633454	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:72344389G>A	ENST00000299687.5	+	1	1414	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	ZNF407_ENST00000309902.6_Missense_Mutation_p.D472N|ZNF407_ENST00000577538.1_Missense_Mutation_p.D472N|ZNF407_ENST00000582337.1_Missense_Mutation_p.D472N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	472					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.D472N(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAAAACACACGATGCAGAATC	0.463													G|||	4	0.000798722	0.003	0.0	5008	,	,		21783	0.0		0.0	False		,,,				2504	0.0				p.D472N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1414A	18						.	G	ASN/ASP,ASN/ASP,ASN/ASP	11,4131		0,11,2060	48.0	52.0	50.0		1414,1414,1414	5.8	0.0	18		50	0,8410		0,0,4205	yes	missense,missense,missense	ZNF407	NM_001146189.1,NM_001146190.1,NM_017757.2	23,23,23	0,11,6265	AA,AG,GG		0.0,0.2656,0.0876	possibly-damaging,possibly-damaging,possibly-damaging	472/1816,472/1661,472/2249	72344389	11,12541	2071	4205	6276	70473377	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1414G>A	18.37:g.72344389G>A	ENSP00000299687:p.Asp472Asn		70473377	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591501	0.46214	0.002656	0.0	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10860	2.83;3.31	5.83	5.83	0.93111	.	7.056580	0.02175	U	0.060001	T	0.28863	0.0716	L	0.43152	1.355	0.20307	N	0.999919	D;B;D	0.67145	0.996;0.333;0.993	P;B;P	0.57009	0.811;0.061;0.652	T	0.55309	-0.8161	10	0.27082	T	0.32	.	18.3161	0.90221	0.0:0.0:1.0:0.0	.	472;472;472	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	472	ENSP00000299687:D472N;ENSP00000310359:D472N	ENSP00000299687:D472N	D	+	1	0	ZNF407	70473377	0.808000	0.29022	0.018000	0.16275	0.013000	0.08279	2.748000	0.47483	0.774000	0.33427	0.528000	0.53228	GAT		0.463	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
ZNF407	55628	broad.mit.edu	37	18	72344916	72344916	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:72344916G>T	ENST00000299687.5	+	1	1941	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	ZNF407_ENST00000309902.6_Missense_Mutation_p.K647N|ZNF407_ENST00000577538.1_Missense_Mutation_p.K647N|ZNF407_ENST00000582337.1_Missense_Mutation_p.K647N	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	647					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.K647N(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTCAACCAAAGACTTTGCAAT	0.358																																					p.K647N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1941T	18						.						74.0	74.0	74.0					18																	72344916		1849	4085	5934	70473904	SO:0001583	missense	55628	exon1			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1941G>T	18.37:g.72344916G>T	ENSP00000299687:p.Lys647Asn		70473904	NM_001146190	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067877	0.36470	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.10860	2.83;3.27	5.76	1.76	0.24704	.	0.419632	0.14960	U	0.288439	T	0.18882	0.0453	M	0.61703	1.905	0.09310	N	1	D;D;P	0.71674	0.986;0.998;0.868	P;P;B	0.59889	0.663;0.865;0.383	T	0.14504	-1.0470	10	0.25106	T	0.35	.	4.4974	0.11844	0.2456:0.0:0.5289:0.2256	.	647;647;647	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	N	647	ENSP00000299687:K647N;ENSP00000310359:K647N	ENSP00000299687:K647N	K	+	3	2	ZNF407	70473904	0.087000	0.21565	0.003000	0.11579	0.877000	0.50540	1.921000	0.40035	-0.115000	0.11915	0.377000	0.23210	AAG		0.358	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
LRRC30	339291	broad.mit.edu	37	18	7231358	7231358	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:7231358G>T	ENST00000383467.2	+	1	236	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	74								p.Q74H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCGAGGTCCAGAAACTCAATC	0.597																																					p.Q74H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G222T	18						.						56.0	60.0	59.0					18																	7231358		1955	4158	6113	7221358	SO:0001583	missense	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.222G>T	18.37:g.7231358G>T	ENSP00000372959:p.Gln74His		7221358	NM_001105581		Missense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432974	0.62844	.	.	ENSG00000206422	ENST00000383467	T	0.11930	2.73	5.65	4.78	0.61160	.	0.217497	0.48767	D	0.000171	T	0.28928	0.0718	L	0.53249	1.67	0.36428	D	0.864721	D	0.89917	1.0	D	0.72982	0.979	T	0.19516	-1.0303	10	0.33940	T	0.23	.	11.004	0.47622	0.1423:0.0:0.8577:0.0	.	74	A6NM36	LRC30_HUMAN	H	74	ENSP00000372959:Q74H	ENSP00000372959:Q74H	Q	+	3	2	LRRC30	7221358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.115000	0.31209	1.534000	0.49203	0.650000	0.86243	CAG		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
ZNF407	55628	broad.mit.edu	37	18	72775641	72775641	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:72775641C>T	ENST00000299687.5	+	8	5964	c.5964C>T	c.(5962-5964)gcC>gcT	p.A1988A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1988					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.A1988A(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATCCTCAGCCCTGGATGCAT	0.617																																					p.A1988A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5964T	18						.						15.0	19.0	18.0					18																	72775641		2086	4208	6294	70904629	SO:0001819	synonymous_variant	55628	exon8			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5964C>T	18.37:g.72775641C>T			70904629	NM_017757	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
PTPRM	5797	broad.mit.edu	37	18	7888350	7888350	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:7888350G>T	ENST00000332175.8	+	3	1480	c.443G>T	c.(442-444)aGt>aTt	p.S148I	PTPRM_ENST00000400060.4_Missense_Mutation_p.S148I|PTPRM_ENST00000400053.4_Missense_Mutation_p.S86I|PTPRM_ENST00000580170.1_Missense_Mutation_p.S148I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	148	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S148I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGCCATTAGTACTTTCTGG	0.363																																					p.S148I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443T	18						.						73.0	76.0	75.0					18																	7888350		2203	4300	6503	7878350	SO:0001583	missense	5797	exon3			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.443G>T	18.37:g.7888350G>T	ENSP00000331418:p.Ser148Ile		7878350	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694050	0.88735	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02446	4.29;4.29;4.29	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.083104	0.85682	D	0.000000	T	0.21468	0.0517	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00120	-1.2030	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	148;148	A7MBN1;P28827	.;PTPRM_HUMAN	I	148;148;86	ENSP00000331418:S148I;ENSP00000382933:S148I;ENSP00000382927:S86I	ENSP00000331418:S148I	S	+	2	0	PTPRM	7878350	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.636000	0.67848	2.885000	0.99019	0.655000	0.94253	AGT		0.363	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
ANKRD12	23253	broad.mit.edu	37	18	9255359	9255359	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:9255359G>T	ENST00000262126.4	+	9	2334	c.2094G>T	c.(2092-2094)gaG>gaT	p.E698D	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E675D|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E675D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	698						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E698D(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						tttggaaagagaattttttta	0.274																																					p.E698D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2094T	18						.						41.0	45.0	44.0					18																	9255359		2125	4177	6302	9245359	SO:0001583	missense	23253	exon9			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.2094G>T	18.37:g.9255359G>T	ENSP00000262126:p.Glu698Asp		9245359	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369121	0.42003	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.91843	-2.92;-2.92	5.06	2.22	0.28083	.	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	M	0.67953	2.075	0.50632	D	0.999881	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.77557	0.99;0.99;0.918	D	0.92349	0.5888	10	0.66056	D	0.02	-22.5349	7.6147	0.28150	0.4325:0.0:0.5675:0.0	.	325;675;698	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	D	675;698;405	ENSP00000372932:E675D;ENSP00000262126:E698D	ENSP00000262126:E698D	E	+	3	2	ANKRD12	9245359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.797000	0.26999	0.624000	0.30286	0.460000	0.39030	GAG		0.274	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ANKRD12	23253	broad.mit.edu	37	18	9275530	9275530	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:9275530C>A	ENST00000262126.4	+	11	6012	c.5772C>A	c.(5770-5772)ctC>ctA	p.L1924L	ANKRD12_ENST00000383440.2_Silent_p.L1901L|ANKRD12_ENST00000400020.3_Silent_p.L1901L|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1924						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L1924L(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						AGGAAAAACTCATTGTATCCA	0.358																																					p.L1924L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5772A	18						.						113.0	108.0	110.0					18																	9275530		2203	4300	6503	9265530	SO:0001819	synonymous_variant	23253	exon11			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.5772C>A	18.37:g.9275530C>A			9265530	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				0.358	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ADNP2	22850	broad.mit.edu	37	18	77894049	77894049	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr18:77894049T>G	ENST00000262198.4	+	4	1208	c.753T>G	c.(751-753)atT>atG	p.I251M		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	251					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.I251M(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GATCTGTGATTTCAGAACATA	0.448																																					p.I251M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T753G	18						.						73.0	74.0	74.0					18																	77894049		2203	4300	6503	75995040	SO:0001583	missense	22850	exon4			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.753T>G	18.37:g.77894049T>G	ENSP00000262198:p.Ile251Met		75995040	NM_014913	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755595	0.69648	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.41	-6.42	0.01932	.	0.000000	0.64402	D	0.000004	T	0.41558	0.1164	L	0.32530	0.975	0.29063	N	0.883761	D	0.89917	1.0	D	0.91635	0.999	T	0.45948	-0.9226	8	.	.	.	-27.2991	8.9059	0.35523	0.1076:0.494:0.0:0.3985	.	251	Q6IQ32	ADNP2_HUMAN	M	251	.	.	I	+	3	3	ADNP2	75995040	0.994000	0.37717	0.720000	0.30636	0.999000	0.98932	0.035000	0.13797	-1.500000	0.01819	0.533000	0.62120	ATT		0.448	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913	
FANCD2	2177	broad.mit.edu	37	3	10076388	10076388	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:10076388G>T	ENST00000419585.1	+	5	444	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	FANCD2_ENST00000383807.1_Nonsense_Mutation_p.E95*|RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000383806.1_Nonsense_Mutation_p.E95*|FANCD2_ENST00000431693.1_Nonsense_Mutation_p.E95*|FANCD2_ENST00000287647.3_Nonsense_Mutation_p.E95*			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	95	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.E95*(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)		GATAATAGAAGAATTTGTTAG	0.353			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.E95X		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G283T	3						.						39.0	34.0	36.0					3																	10076388		2199	4292	6491	10051388	SO:0001587	stop_gained	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.283G>T	3.37:g.10076388G>T	ENSP00000398754:p.Glu95*		10051388	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698964	0.97772	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	17.849	0.88739	0.0:0.0:1.0:0.0	.	.	.	.	X	95	.	ENSP00000287647:E95X	E	+	1	0	FANCD2	10051388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.572000	0.67411	2.812000	0.96745	0.557000	0.71058	GAA		0.353	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
CMSS1	84319	broad.mit.edu	37	3	99895198	99895198	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:99895198T>G	ENST00000421999.2	+	9	841	c.695T>G	c.(694-696)tTt>tGt	p.F232C	CMSS1_ENST00000489081.1_Missense_Mutation_p.F214C	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	232							poly(A) RNA binding (GO:0044822)	p.F232C(1)									CCCTTAAAATTTCTGGTTTTT	0.388																																					p.F214C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T641G	3						.						86.0	89.0	88.0					3																	99895198		2203	4300	6503	101377888	SO:0001583	missense	84319	exon9				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.695T>G	3.37:g.99895198T>G	ENSP00000410396:p.Phe232Cys		101377888	NM_001167924	A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	ENST00000421999.2	37	CCDS2935.1	.	.	.	.	.	.	.	.	.	.	T	7.630	0.678613	0.14841	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909	T;T;T	0.31510	1.49;1.49;1.49	4.84	3.5	0.40072	DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.106709	0.64402	D	0.000003	T	0.23210	0.0561	L	0.45581	1.43	0.38089	D	0.936895	B	0.11235	0.004	B	0.13407	0.009	T	0.09640	-1.0665	9	.	.	.	.	7.3444	0.26656	0.379:0.0:0.0:0.621	.	232	Q9BQ75	CC026_HUMAN	C	232;214;188	ENSP00000410396:F232C;ENSP00000419161:F214C;ENSP00000417293:F188C	.	F	+	2	0	C3orf26	101377888	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	4.199000	0.58426	1.923000	0.55706	0.482000	0.46254	TTT		0.388	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359	
NIT2	56954	broad.mit.edu	37	3	100064474	100064474	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:100064474G>A	ENST00000394140.4	+	5	473	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	128	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)	p.E128K(1)|p.E128*(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TACATTTCAAGAATCTAAAAC	0.388																																					p.E128K												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(2)	c.G382A	3						.						115.0	108.0	110.0					3																	100064474		2203	4300	6503	101547164	SO:0001583	missense	56954	exon5			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.382G>A	3.37:g.100064474G>A	ENSP00000377696:p.Glu128Lys		101547164	NM_020202	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.481036|5.481036	0.96307|0.96307	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.92348|.	-3.02|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92163|0.92163	0.7515|0.7515	H|H	0.99764|0.99764	4.76|4.76	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	D|D	0.95325|0.95325	0.8424|0.8424	10|5	0.87932|.	D|.	0|.	-16.4056|-16.4056	19.4938|19.4938	0.95064|0.95064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	128|.	Q9NQR4|.	NIT2_HUMAN|.	K|K	128|221	ENSP00000377696:E128K|.	ENSP00000377696:E128K|.	E|R	+|+	1|2	0|0	NIT2|NIT2	101547164|101547164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.802000|8.802000	0.91910|0.91910	2.777000|2.777000	0.95525|0.95525	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.388	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	
IMPG2	50939	broad.mit.edu	37	3	100963582	100963582	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:100963582C>T	ENST00000193391.7	-	13	1780	c.1593G>A	c.(1591-1593)ttG>ttA	p.L531L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	531					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.L531L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AACTTGAAGGCAATGAATCAA	0.343																																					p.L531L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1593A	3						.						85.0	79.0	81.0					3																	100963582		2203	4300	6503	102446272	SO:0001819	synonymous_variant	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1593G>A	3.37:g.100963582C>T			102446272	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.343	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
SENP7	57337	broad.mit.edu	37	3	101046585	101046585	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:101046585G>A	ENST00000394095.2	-	23	2993	c.2940C>T	c.(2938-2940)tgC>tgT	p.C980C	SENP7_ENST00000394094.2_Silent_p.C915C|SENP7_ENST00000358203.3_Silent_p.C816C|SENP7_ENST00000314261.7_Silent_p.C914C|SENP7_ENST00000394091.1_Silent_p.C816C|SENP7_ENST00000348610.3_Silent_p.C947C|SENP7_ENST00000394085.3_Silent_p.C168C	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	980	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.C914C(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						GAACTTTAGGGCATAGATCCA	0.343																																					p.C980C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2940T	3						.						216.0	191.0	199.0					3																	101046585		2203	4300	6503	102529275	SO:0001819	synonymous_variant	57337	exon23				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.2940C>T	3.37:g.101046585G>A			102529275	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
ATP2B2	491	broad.mit.edu	37	3	10442759	10442759	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:10442759T>C	ENST00000352432.4	-	4	728	c.659A>G	c.(658-660)gAc>gGc	p.D220G	ATP2B2_ENST00000343816.4_Missense_Mutation_p.D220G|ATP2B2_ENST00000397077.1_Missense_Mutation_p.D220G|ATP2B2_ENST00000360273.2_Missense_Mutation_p.D220G|ATP2B2_ENST00000383800.4_Missense_Mutation_p.D220G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	220					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.D220G(1)		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						AGGGAGGAGGTCACCTGGCAA	0.567																																					p.D220G	Ovarian(125;1619 1709 15675 19819 38835)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A659G	3						.						68.0	65.0	66.0					3																	10442759		2203	4300	6503	10417759	SO:0001583	missense	491	exon5			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.659A>G	3.37:g.10442759T>C	ENSP00000324172:p.Asp220Gly		10417759	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509739	0.85282	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	M	0.92026	3.265	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.996	D	0.97746	1.0211	10	0.87932	D	0	-43.6108	15.7913	0.78367	0.0:0.0:0.0:1.0	.	220;232;220	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	G	220;220;220;220;220;186;107;220	ENSP00000324172:D220G;ENSP00000373311:D220G;ENSP00000380267:D220G;ENSP00000353414:D220G;ENSP00000344677:D220G;ENSP00000414854:D107G	ENSP00000342954:D220G	D	-	2	0	ATP2B2	10417759	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	8.018000	0.88722	2.124000	0.65301	0.528000	0.53228	GAC		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
TRMT10C	54931	broad.mit.edu	37	3	101283714	101283714	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:101283714G>T	ENST00000309922.6	+	2	243	c.89G>T	c.(88-90)aGa>aTa	p.R30I		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	30					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.R30I(1)									CATAGGAAGAGAAATAACTTA	0.388																																					p.R30I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G89T	3						.						149.0	139.0	142.0					3																	101283714		1819	4077	5896	102766404	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.89G>T	3.37:g.101283714G>T	ENSP00000312356:p.Arg30Ile		102766404	NM_017819	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	37	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	9.809	1.182646	0.21870	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.26518	2.34;1.73	6.04	1.18	0.20946	.	0.900493	0.09677	N	0.770352	T	0.13329	0.0323	N	0.19112	0.55	0.09310	N	0.999997	P	0.37864	0.61	B	0.31191	0.125	T	0.17167	-1.0378	10	0.66056	D	0.02	-22.1533	4.9798	0.14158	0.3278:0.2615:0.4107:0.0	.	30	Q7L0Y3	MRRP1_HUMAN	I	30	ENSP00000312356:R30I;ENSP00000419389:R30I	ENSP00000312356:R30I	R	+	2	0	RG9MTD1	102766404	0.998000	0.40836	0.095000	0.20976	0.488000	0.33401	0.701000	0.25616	-0.058000	0.13177	0.563000	0.77884	AGA		0.388	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819	
MORC1	27136	broad.mit.edu	37	3	108818291	108818291	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:108818291C>A	ENST00000483760.1	-	6	380	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000232603.5_Missense_Mutation_p.D113Y					MORC family CW-type zinc finger 1									p.D113Y(2)		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						AGAATAAAGTCTTTTCCAATT	0.348																																					p.D113Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G337T	3						.						106.0	105.0	106.0					3																	108818291		2201	4299	6500	110300981	SO:0001583	missense	27136	exon6			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.337G>T	3.37:g.108818291C>A	ENSP00000417282:p.Asp113Tyr		110300981	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.007224	0.75046	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73152	-0.72;-0.72	4.91	4.91	0.64330	ATPase-like, ATP-binding domain (3);	0.000000	0.52532	D	0.000076	D	0.86686	0.5992	M	0.90019	3.08	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89003	0.3423	10	0.72032	D	0.01	-20.2305	15.9856	0.80151	0.0:1.0:0.0:0.0	.	113;113	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	113	ENSP00000232603:D113Y;ENSP00000417282:D113Y	ENSP00000232603:D113Y	D	-	1	0	MORC1	110300981	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.641000	0.74324	2.712000	0.92718	0.650000	0.86243	GAC		0.348	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
DPPA2	151871	broad.mit.edu	37	3	109023367	109023367	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:109023367G>A	ENST00000478945.1	-	7	1055	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	270					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCCTGGGGATGGGAAAAT	0.478																																					p.S270F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C809T	3						.						75.0	71.0	72.0					3																	109023367		2203	4300	6503	110506057	SO:0001583	missense	151871	exon7			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.809C>T	3.37:g.109023367G>A	ENSP00000417710:p.Ser270Phe		110506057	NM_138815	Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	4.460	0.085120	0.08583	.	.	ENSG00000163530	ENST00000478945	T	0.34072	1.38	5.2	2.34	0.29019	.	1.048650	0.07482	N	0.904142	T	0.30135	0.0755	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.23419	0.046	T	0.35968	-0.9767	10	0.87932	D	0	3.0E-4	5.9715	0.19355	0.0893:0.0:0.5646:0.346	.	270	Q7Z7J5	DPPA2_HUMAN	F	270	ENSP00000417710:S270F	ENSP00000417710:S270F	S	-	2	0	DPPA2	110506057	0.047000	0.20315	0.000000	0.03702	0.156000	0.22039	0.636000	0.24644	0.302000	0.22762	0.555000	0.69702	TCC		0.478	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	
PLCXD2	257068	broad.mit.edu	37	3	111427208	111427208	+	Missense_Mutation	SNP	G	G	A	rs201796337		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:111427208G>A	ENST00000477665.1	+	2	923	c.599G>A	c.(598-600)cGa>cAa	p.R200Q	PLCXD2_ENST00000393934.3_Missense_Mutation_p.R200Q	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	200	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R200Q(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TTGACGCTGCGAACTCTGTGG	0.512																																					p.R200Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	3						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	58.0	58.0	58.0		599,599	-6.8	0.0	3		58	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PLCXD2	NM_001185106.1,NM_153268.3	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	200/306,200/305	111427208	2,13004	2203	4300	6503	112909898	SO:0001583	missense	257068	exon2			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.599G>A	3.37:g.111427208G>A	ENSP00000420686:p.Arg200Gln		112909898	NM_153268	Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	0.104	-1.148449	0.01714	0.0	2.33E-4	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.73	-6.77	0.01727	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	.	.	.	.	T	0.17959	0.0431	N	0.02765	-0.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33189	-0.9878	8	0.19147	T	0.46	-0.5606	16.6553	0.85226	0.3462:0.0:0.6538:0.0	.	200;200	Q0VAA5;Q0VAA5-2	PLCX2_HUMAN;.	Q	200	.	ENSP00000377511:R200Q	R	+	2	0	PLCXD2	112909898	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.039000	0.12124	-1.233000	0.02551	-0.150000	0.13652	CGA		0.512	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	
TMPRSS7	344805	broad.mit.edu	37	3	111793181	111793181	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:111793181G>T	ENST00000452346.2	+	14	1708	c.1705G>T	c.(1705-1707)Gat>Tat	p.D569Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.D443Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	569	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D298Y(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						GTGTGGCAATGATATTTGCTT	0.373																																					p.D443Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1327T	3						.						179.0	168.0	171.0					3																	111793181		1918	4119	6037	113275871	SO:0001583	missense	344805	exon12			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.1705G>T	3.37:g.111793181G>T	ENSP00000398236:p.Asp569Tyr		113275871	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37		.	.	.	.	.	.	.	.	.	.	G	18.30	3.594516	0.66219	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.95342	-3.68;-3.68	6.17	3.44	0.39384	.	0.297427	0.37483	N	0.002080	D	0.90549	0.7038	N	0.17474	0.49	0.40973	D	0.984717	P;P	0.48589	0.912;0.892	P;B	0.51487	0.671;0.413	D	0.89334	0.3649	10	0.66056	D	0.02	.	6.9549	0.24565	0.319:0.0:0.681:0.0	.	569;443	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	569;557;543;443	ENSP00000398236:D569Y;ENSP00000411645:D443Y	ENSP00000411645:D443Y	D	+	1	0	TMPRSS7	113275871	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	3.547000	0.53663	0.944000	0.37579	0.655000	0.94253	GAT		0.373	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
CD200R1	131450	broad.mit.edu	37	3	112666716	112666716	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:112666716C>T	ENST00000308611.3	-	2	387	c.123G>A	c.(121-123)gaG>gaA	p.E41E	CD200R1_ENST00000490004.1_Intron|CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000471858.1_Intron|CD200R1_ENST00000440122.2_Silent_p.E41E	NM_138806.3	NP_620161.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	22					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E41E(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AAGCATGATTCTCCTTGCTAG	0.378																																					p.E41E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G123A	3						.						122.0	115.0	118.0					3																	112666716		2203	4300	6503	114149406	SO:0001819	synonymous_variant	131450	exon2			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000308611.3:c.123G>A	3.37:g.112666716C>T			114149406	NM_138939	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000308611.3	37	CCDS2969.1																																																																																				0.378	CD200R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354466.1	NM_138806	
GTPBP8	29083	broad.mit.edu	37	3	112715818	112715818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:112715818G>T	ENST00000383678.2	+	4	728	c.646G>T	c.(646-648)Gaa>Taa	p.E216*	GTPBP8_ENST00000467752.1_Nonsense_Mutation_p.E105*|GTPBP8_ENST00000473129.1_Nonsense_Mutation_p.E66*|GTPBP8_ENST00000383677.3_Nonsense_Mutation_p.E183*	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	216	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.E216*(1)		kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGTGTGAAGAATTTGCATT	0.333																																					p.E216X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G646T	3						.						143.0	147.0	146.0					3																	112715818		2202	4299	6501	114198508	SO:0001587	stop_gained	29083	exon4			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.646G>T	3.37:g.112715818G>T	ENSP00000373176:p.Glu216*		114198508	NM_014170	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Nonsense_Mutation	SNP	ENST00000383678.2	37	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986490	0.97173	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	.	.	.	5.73	5.73	0.89815	.	0.173338	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.649	18.6782	0.91537	0.0:0.0:1.0:0.0	.	.	.	.	X	216;183;239;105;66	.	ENSP00000303802:E239X	E	+	1	0	GTPBP8	114198508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.065000	0.76727	2.710000	0.92621	0.561000	0.74099	GAA		0.333	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170	
ZBTB20	26137	broad.mit.edu	37	3	114070651	114070651	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:114070651C>T	ENST00000474710.1	-	4	452	c.274G>A	c.(274-276)Gag>Aag	p.E92K	ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E19K|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E19K|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E19K|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E19K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E19K|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.E19K	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	92						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.E19K(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTGAGGGTCTCGAGCACGGAA	0.592																																					p.E19K	NSCLC(69;748 1344 9802 11203 30933)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	3						.						66.0	69.0	68.0					3																	114070651		2203	4299	6502	115553341	SO:0001583	missense	26137	exon11			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.274G>A	3.37:g.114070651C>T	ENSP00000419153:p.Glu92Lys		115553341	NM_001164343	Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472330	0.84533	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.70631	1.99;1.99;1.99;1.99;1.99;1.99;1.99;-0.5	6.1	6.1	0.99115	BTB/POZ fold (2);	0.051855	0.85682	D	0.000000	T	0.57330	0.2046	N	0.17564	0.495	0.58432	D	0.999997	D	0.53462	0.96	B	0.36989	0.238	T	0.65948	-0.6044	10	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	92	Q9HC78	ZBT20_HUMAN	K	19;19;19;19;92;19;19;19	ENSP00000420324:E19K;ENSP00000377375:E19K;ENSP00000418092:E19K;ENSP00000419902:E19K;ENSP00000419153:E92K;ENSP00000349803:E19K;ENSP00000417307:E19K;ENSP00000420684:E19K	ENSP00000349803:E19K	E	-	1	0	ZBTB20	115553341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.902000	0.99343	0.650000	0.86243	GAG		0.592	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642	
ARHGAP31	57514	broad.mit.edu	37	3	119120696	119120696	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:119120696G>A	ENST00000264245.4	+	10	1629	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	366					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.R366Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AATTTCAATCGAACAGTTACC	0.512																																					p.R366Q	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1097A	3						.						29.0	32.0	31.0					3																	119120696		1923	4132	6055	120603386	SO:0001583	missense	57514	exon10				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1097G>A	3.37:g.119120696G>A	ENSP00000264245:p.Arg366Gln		120603386	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288097	0.80803	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.09255	3.0	5.48	5.48	0.80851	.	0.212247	0.32785	N	0.005649	T	0.17023	0.0409	M	0.64997	1.995	0.40145	D	0.97688	D	0.53745	0.962	B	0.42319	0.383	T	0.01188	-1.1424	10	0.87932	D	0	.	18.5258	0.90971	0.0:0.0:1.0:0.0	.	366	Q2M1Z3	RHG31_HUMAN	Q	366	ENSP00000264245:R366Q	ENSP00000264245:R366Q	R	+	2	0	ARHGAP31	120603386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.895000	0.48648	2.850000	0.98022	0.655000	0.94253	CGA		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
ARHGAP31	57514	broad.mit.edu	37	3	119133024	119133024	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:119133024G>A	ENST00000264245.4	+	12	2780	c.2248G>A	c.(2248-2250)Gcc>Acc	p.A750T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	750	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.A750T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGACCTCGCCAGCCTGGC	0.592																																					p.A750T	Pancreas(7;176 297 5394 51128 51241)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2248A	3						.						52.0	57.0	56.0					3																	119133024		1996	4160	6156	120615714	SO:0001583	missense	57514	exon12				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2248G>A	3.37:g.119133024G>A	ENSP00000264245:p.Ala750Thr		120615714	NM_020754	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532782	0.27387	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07114	3.22	5.3	-5.06	0.02946	.	0.742689	0.12728	N	0.444136	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40421	-0.9564	10	0.23891	T	0.37	.	4.654	0.12608	0.338:0.1019:0.4663:0.0939	.	750	Q2M1Z3	RHG31_HUMAN	T	750	ENSP00000264245:A750T	ENSP00000264245:A750T	A	+	1	0	ARHGAP31	120615714	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.651000	0.05372	-0.899000	0.03901	-0.137000	0.14449	GCC		0.592	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2		
GPR156	165829	broad.mit.edu	37	3	119886062	119886062	+	Missense_Mutation	SNP	G	G	T	rs368406321		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:119886062G>T	ENST00000464295.1	-	10	2707	c.2262C>A	c.(2260-2262)ttC>ttA	p.F754L	GPR156_ENST00000461057.1_Missense_Mutation_p.F750L|GPR156_ENST00000315843.3_Missense_Mutation_p.F754L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	754						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.F754L(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGCGGCAGAAGAACTCATCTG	0.562																																					p.F750L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2250A	3						.						78.0	88.0	85.0					3																	119886062		2203	4300	6503	121368752	SO:0001583	missense	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.2262C>A	3.37:g.119886062G>T	ENSP00000417261:p.Phe754Leu		121368752	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	9.521	1.108331	0.20714	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.22945	1.93;1.93;1.93	4.97	3.03	0.35002	.	0.662303	0.15293	N	0.270073	T	0.11367	0.0277	N	0.08118	0	0.29944	N	0.820789	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	9	.	.	.	-9.4612	7.6332	0.28251	0.0:0.2571:0.4193:0.3235	.	750;754	E9PFZ4;Q8NFN8	.;GP156_HUMAN	L	754;754;750	ENSP00000417261:F754L;ENSP00000324553:F754L;ENSP00000418758:F750L	.	F	-	3	2	GPR156	121368752	0.642000	0.27260	1.000000	0.80357	0.987000	0.75469	0.664000	0.25068	1.459000	0.47892	0.561000	0.74099	TTC		0.562	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
RABL3	285282	broad.mit.edu	37	3	120424908	120424908	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:120424908G>A	ENST00000273375.3	-	4	351	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	RABL3_ENST00000483733.1_Missense_Mutation_p.R108C|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	108	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.R108G(1)|p.R108C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		AATGACCAACGACGCAAGTTT	0.383																																					p.R108C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C322T	3						.						114.0	115.0	114.0					3																	120424908		2203	4300	6503	121907598	SO:0001583	missense	285282	exon4			BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.322C>T	3.37:g.120424908G>A	ENSP00000273375:p.Arg108Cys		121907598	NM_173825	Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802850	0.90623	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.77620	-1.11;-1.11	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85287	0.5662	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85142	0.0981	10	0.52906	T	0.07	-6.8433	18.6251	0.91334	0.0:0.0:1.0:0.0	.	108	Q5HYI8	RABL3_HUMAN	C	108	ENSP00000273375:R108C;ENSP00000419986:R108C	ENSP00000273375:R108C	R	-	1	0	RABL3	121907598	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.405000	0.80007	2.647000	0.89833	0.655000	0.94253	CGT		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825	
POLQ	10721	broad.mit.edu	37	3	121230747	121230747	+	Missense_Mutation	SNP	C	C	T	rs375451342		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:121230747C>T	ENST00000264233.5	-	10	1726	c.1598G>A	c.(1597-1599)cGa>cAa	p.R533Q		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	533	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.R668Q(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)		CAGAATAGCTCGTATCATGCT	0.368								DNA polymerases (catalytic subunits)																													p.R533Q	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1598A	3						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	107.0	108.0		1598	5.3	1.0	3		108	0,8600		0,0,4300	no	missense	POLQ	NM_199420.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	533/2591	121230747	1,13005	2203	4300	6503	122713437	SO:0001583	missense	10721	exon10			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.1598G>A	3.37:g.121230747C>T	ENSP00000264233:p.Arg533Gln		122713437	NM_199420	O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598116	0.96614	2.27E-4	0.0	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.43294	0.95	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.066760	0.56097	D	0.000029	T	0.61223	0.2330	M	0.93328	3.405	0.58432	D	0.999998	P	0.50819	0.939	B	0.44133	0.442	T	0.75611	-0.3258	10	0.72032	D	0.01	.	18.9823	0.92760	0.0:1.0:0.0:0.0	.	533	O75417	DPOLQ_HUMAN	Q	156;533;669	ENSP00000264233:R533Q	ENSP00000264233:R533Q	R	-	2	0	POLQ	122713437	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.149000	0.77396	2.458000	0.83093	0.455000	0.32223	CGA		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
POLQ	10721	broad.mit.edu	37	3	121251840	121251840	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:121251840C>A	ENST00000264233.5	-	6	1085	c.957G>T	c.(955-957)gtG>gtT	p.V319V	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	319					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.V452V(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)		GATTTACCTTCACTTGTAGCA	0.348								DNA polymerases (catalytic subunits)																													p.V319V	Pancreas(152;907 1925 26081 31236 36904)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G957T	3						.						62.0	67.0	65.0					3																	121251840		2203	4300	6503	122734530	SO:0001819	synonymous_variant	10721	exon6			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.957G>T	3.37:g.121251840C>A			122734530	NM_199420	O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
FBXO40	51725	broad.mit.edu	37	3	121340649	121340649	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:121340649T>C	ENST00000338040.4	+	3	787	c.373T>C	c.(373-375)Ttg>Ctg	p.L125L		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	125					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L125L(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGAGGAGTGTTTGGACACAGC	0.522																																					p.L125L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T373C	3						.						53.0	57.0	56.0					3																	121340649		2203	4300	6503	122823339	SO:0001819	synonymous_variant	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.373T>C	3.37:g.121340649T>C			122823339	NM_016298	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																				0.522	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
GOLGB1	2804	broad.mit.edu	37	3	121416427	121416427	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:121416427T>C	ENST00000340645.5	-	13	3053	c.2928A>G	c.(2926-2928)gaA>gaG	p.E976E	GOLGB1_ENST00000393667.3_Silent_p.E981E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	976					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.E976E(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)		CATGCTGAAGTTCTTCCTTAC	0.388																																					p.E976E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2928G	3						.						82.0	85.0	84.0					3																	121416427		2203	4300	6503	122899117	SO:0001819	synonymous_variant	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.2928A>G	3.37:g.121416427T>C			122899117	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	1.550	-0.539364	0.04053	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.35	7.93E-4	0.14043	.	.	.	.	.	T	0.50326	0.1609	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34378	-0.9831	4	.	.	.	.	5.1281	0.14896	0.0:0.3601:0.1587:0.4812	.	.	.	.	S	847	.	.	N	-	2	0	GOLGB1	122899117	0.000000	0.05858	0.993000	0.49108	0.719000	0.41307	-0.715000	0.04997	-0.123000	0.11745	0.533000	0.62120	AAC		0.388	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
CSTA	1475	broad.mit.edu	37	3	122056405	122056405	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:122056405G>A	ENST00000264474.3	+	2	127	c.78G>A	c.(76-78)caG>caA	p.Q26Q	CSTA_ENST00000479204.1_Silent_p.Q26Q	NM_005213.3	NP_005204.1	P01040	CYTA_HUMAN	cystatin A (stefin A)	26					keratinocyte differentiation (GO:0030216)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|peptide cross-linking (GO:0018149)|single organismal cell-cell adhesion (GO:0016337)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.Q26Q(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TTAAACCACAGCTTGAAGAAA	0.353																																					p.Q26Q	Pancreas(26;157 1503 12440)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	3						.						82.0	84.0	84.0					3																	122056405		2203	4300	6503	123539095	SO:0001819	synonymous_variant	1475	exon2				CCDS3011.1	3q21	2008-04-15			ENSG00000121552	ENSG00000121552			2481	protein-coding gene	gene with protein product		184600		STF1, STFA		1674139	Standard	NM_005213		Approved		uc003eex.3	P01040	OTTHUMG00000159488	ENST00000264474.3:c.78G>A	3.37:g.122056405G>A			123539095	NM_005213	Q6IB90	Silent	SNP	ENST00000264474.3	37	CCDS3011.1																																																																																				0.353	CSTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355751.1	NM_005213	
PARP9	83666	broad.mit.edu	37	3	122271311	122271311	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:122271311T>G	ENST00000360356.2	-	5	1393	c.1166A>C	c.(1165-1167)aAa>aCa	p.K389T	PARP9_ENST00000462315.1_Missense_Mutation_p.K354T|PARP9_ENST00000471785.1_Missense_Mutation_p.K354T|PARP9_ENST00000477522.2_Missense_Mutation_p.K354T|PARP9_ENST00000492382.1_Intron	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	389	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K389T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		GTATATATATTTACAGAACAA	0.358																																					p.K354T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1061C	3						.						83.0	83.0	83.0					3																	122271311		2203	4300	6503	123754001	SO:0001583	missense	83666	exon5			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1166A>C	3.37:g.122271311T>G	ENSP00000353512:p.Lys389Thr		123754001	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	T	5.007	0.186903	0.09547	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.3	-3.51	0.04696	Appr-1-p processing (3);	1.351180	0.04897	N	0.450527	T	0.27063	0.0663	M	0.65498	2.005	0.09310	N	1	B;B;B	0.30511	0.282;0.175;0.041	B;B;B	0.30316	0.114;0.112;0.032	T	0.31806	-0.9930	10	0.56958	D	0.05	.	1.0782	0.01637	0.1505:0.294:0.1551:0.4004	.	354;389;354	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	T	389;354;354;312;354	ENSP00000353512:K389T;ENSP00000419506:K354T;ENSP00000419001:K354T;ENSP00000418894:K354T	ENSP00000353512:K389T	K	-	2	0	PARP9	123754001	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.372000	0.07504	-0.709000	0.05008	-1.832000	0.00591	AAA		0.358	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
SEMA5B	54437	broad.mit.edu	37	3	122634448	122634448	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:122634448A>C	ENST00000357599.3	-	14	2213	c.1827T>G	c.(1825-1827)gaT>gaG	p.D609E	SEMA5B_ENST00000195173.4_Missense_Mutation_p.D609E|SEMA5B_ENST00000451055.2_Missense_Mutation_p.D663E	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	609					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D609E(1)|p.D663E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGAAGCCCCCATCCCGTGTCA	0.572																																					p.D609E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1827G	3						.						60.0	59.0	59.0					3																	122634448		2203	4300	6503	124117138	SO:0001583	missense	54437	exon14			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1827T>G	3.37:g.122634448A>C	ENSP00000350215:p.Asp609Glu		124117138	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396791	0.62177	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	4.88	0.989	0.19802	.	0.205916	0.51477	D	0.000089	T	0.36717	0.0977	M	0.81614	2.55	0.45172	D	0.998189	D;D;D	0.58268	0.982;0.969;0.969	P;P;P	0.56127	0.792;0.701;0.701	T	0.25537	-1.0129	10	0.87932	D	0	.	8.8731	0.35327	0.7715:0.0:0.2285:0.0	.	551;609;609	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	E	609;609;551;663;609	ENSP00000350215:D609E;ENSP00000195173:D609E;ENSP00000389588:D663E;ENSP00000377208:D609E	ENSP00000195173:D609E	D	-	3	2	SEMA5B	124117138	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.306000	0.33505	0.317000	0.23160	-0.441000	0.05720	GAT		0.572	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
ADCY5	111	broad.mit.edu	37	3	123036874	123036874	+	Missense_Mutation	SNP	C	C	T	rs147630334	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:123036874C>T	ENST00000462833.1	-	11	3559	c.2347G>A	c.(2347-2349)Gtg>Atg	p.V783M	ADCY5_ENST00000309879.5_Missense_Mutation_p.V433M|ADCY5_ENST00000491190.1_Missense_Mutation_p.V416M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	783					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.V783M(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)		CACTGGGGCACGATGGTGATC	0.577																																					p.V783M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2347A	3						.	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	135.0	113.0	121.0		1297,2347	2.2	1.0	3	dbSNP_134	121	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense	ADCY5	NM_001199642.1,NM_183357.2	21,21	0,12,6491	TT,TC,CC		0.1279,0.0227,0.0923	benign,benign	433/912,783/1262	123036874	12,12994	2203	4300	6503	124519564	SO:0001583	missense	111	exon11			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.2347G>A	3.37:g.123036874C>T	ENSP00000419361:p.Val783Met		124519564	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.29	2.193992	0.38707	2.27E-4	0.001279	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.24	2.18	0.27775	.	0.088050	0.45867	D	0.000336	T	0.21347	0.0514	N	0.13235	0.315	0.49130	D	0.999757	B;B	0.18610	0.015;0.029	B;B	0.12156	0.007;0.007	T	0.04191	-1.0970	10	0.32370	T	0.25	.	5.9246	0.19101	0.1375:0.6166:0.0:0.2458	.	783;416	O95622;B3KWA8	ADCY5_HUMAN;.	M	783;416;433;342	ENSP00000419361:V783M;ENSP00000418537:V416M;ENSP00000308685:V433M;ENSP00000420082:V342M	ENSP00000308685:V433M	V	-	1	0	ADCY5	124519564	0.051000	0.20477	0.986000	0.45419	0.995000	0.86356	0.475000	0.22164	0.737000	0.32582	0.491000	0.48974	GTG		0.577	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
TSEN2	80746	broad.mit.edu	37	3	12574176	12574176	+	Nonsense_Mutation	SNP	C	C	T	rs376815626		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:12574176C>T	ENST00000284995.6	+	12	1741	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	TSEN2_ENST00000415684.1_Nonsense_Mutation_p.R426*|TSEN2_ENST00000314571.7_Nonsense_Mutation_p.R426*|TSEN2_ENST00000454502.2_Nonsense_Mutation_p.R393*|TSEN2_ENST00000383797.5_Nonsense_Mutation_p.R435*|TSEN2_ENST00000475595.1_3'UTR|TSEN2_ENST00000402228.3_Nonsense_Mutation_p.R452*|C3orf83_ENST00000567514.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	452					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.R452*(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GATTCTGAGTCGATGGGTTTC	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19005	0.001		0.0	False		,,,				2504	0.0				p.R452X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1354T	3						.	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	186.0	175.0	179.0		1354,1276,1177,1354	5.2	0.9	3		179	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	TSEN2	NM_001145392.1,NM_001145393.1,NM_001145394.1,NM_025265.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	452/466,426/440,393/407,452/466	12574176	1,13005	2203	4300	6503	12549176	SO:0001587	stop_gained	80746	exon12			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1354C>T	3.37:g.12574176C>T	ENSP00000284995:p.Arg452*		12549176	NM_025265	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Nonsense_Mutation	SNP	ENST00000284995.6	37	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	C	39	7.807817	0.98501	0.0	1.16E-4	ENSG00000154743	ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000537959;ENST00000415684	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4867	15.369	0.74548	0.0:1.0:0.0:0.0	.	.	.	.	X	426;393;435;452;452;425;426	.	ENSP00000284995:R452X	R	+	1	2	TSEN2	12549176	0.998000	0.40836	0.903000	0.35520	0.965000	0.64279	3.059000	0.49947	2.395000	0.81488	0.455000	0.32223	CGA		0.378	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	
MYLK	4638	broad.mit.edu	37	3	123376014	123376014	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:123376014C>T	ENST00000475616.1	-	21	4246	c.4247G>A	c.(4246-4248)aGc>aAc	p.S1416N	MYLK_ENST00000359169.1_Missense_Mutation_p.S1416N|MYLK_ENST00000354792.5_Missense_Mutation_p.S216N|MYLK_ENST00000360772.3_Missense_Mutation_p.S1416N|MYLK_ENST00000346322.5_Missense_Mutation_p.S1347N|MYLK_ENST00000360304.3_Missense_Mutation_p.S1416N			Q15746	MYLK_HUMAN	myosin light chain kinase	1416	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S1416N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACTCCTGGCTTGGCTCACT	0.507																																					p.S1416N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4247A	3						.						170.0	155.0	160.0					3																	123376014		2203	4300	6503	124858704	SO:0001583	missense	4638	exon24			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4247G>A	3.37:g.123376014C>T	ENSP00000418335:p.Ser1416Asn		124858704	NM_053025	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405960	0.96051	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.25	5.25	0.73442	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90335	0.6976	H	0.97491	4.015	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.997;0.999	D	0.93438	0.6791	9	0.72032	D	0.01	.	19.1913	0.93667	0.0:1.0:0.0:0.0	.	1416;1347;1416;1347;1416	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	1416;1416;1416;1347;216;1416;216	ENSP00000354004:S1416N;ENSP00000353452:S1416N;ENSP00000352088:S1416N;ENSP00000320622:S1347N;ENSP00000346846:S216N;ENSP00000418335:S1416N;ENSP00000422984:S216N	ENSP00000320622:S1347N	S	-	2	0	MYLK	124858704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.744000	0.85034	2.624000	0.88883	0.561000	0.74099	AGC		0.507	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
KALRN	8997	broad.mit.edu	37	3	124193561	124193561	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:124193561A>G	ENST00000240874.3	+	26	4234	c.4077A>G	c.(4075-4077)ggA>ggG	p.G1359G	KALRN_ENST00000360013.3_Silent_p.G1359G|KALRN_ENST00000460856.1_Silent_p.G1350G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1359	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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.G1359G(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGATGTGGGACACTGCTTTG	0.512																																					p.G1359G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A4077G	3						.						184.0	171.0	175.0					3																	124193561		2203	4300	6503	125676251	SO:0001819	synonymous_variant	8997	exon26			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4077A>G	3.37:g.124193561A>G			125676251	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	A	9.511	1.105860	0.20632	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.61714	0.2369	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60611	-0.7229	4	.	.	.	.	10.3924	0.44181	0.8534:0.0:0.0:0.1466	.	.	.	.	G	1328	.	.	D	+	2	0	KALRN	125676251	0.986000	0.35501	1.000000	0.80357	0.999000	0.98932	0.245000	0.18142	2.311000	0.77944	0.533000	0.62120	GAC		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
UMPS	7372	broad.mit.edu	37	3	124457045	124457045	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:124457045A>C	ENST00000232607.2	+	3	1047	c.941A>C	c.(940-942)aAg>aCg	p.K314T	UMPS_ENST00000413078.2_Missense_Mutation_p.K136T|UMPS_ENST00000536109.1_Missense_Mutation_p.K222T|UMPS_ENST00000538242.1_Missense_Mutation_p.K136T|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	314	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.K314T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	GAAGACCGGAAGTTTGCAGAT	0.353																																					p.K314T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A941C	3						.						60.0	63.0	62.0					3																	124457045		2190	4298	6488	125939735	SO:0001583	missense	7372	exon3				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.941A>C	3.37:g.124457045A>C	ENSP00000232607:p.Lys314Thr		125939735	NM_000373	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326248	0.81580	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242;ENST00000413078	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.43	5.43	0.79202	Orotidine 5&apos (2);Aldolase-type TIM barrel (1);-phosphate decarboxylase domain (2);Ribulose-phosphate binding barrel (1);	0.052951	0.64402	D	0.000001	D	0.98058	0.9360	M	0.91196	3.185	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	0.99029	1.0820	10	0.87932	D	0	-20.7979	14.2022	0.65712	1.0:0.0:0.0:0.0	.	136;136;314	B5LY72;B5LY70;P11172	.;.;UMPS_HUMAN	T	314;222;136;136	ENSP00000232607:K314T;ENSP00000443577:K222T;ENSP00000444988:K136T;ENSP00000397965:K136T	ENSP00000232607:K314T	K	+	2	0	UMPS	125939735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.170000	0.89673	2.279000	0.76181	0.533000	0.62120	AAG		0.353	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373	
HEG1	57493	broad.mit.edu	37	3	124689614	124689614	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:124689614C>T	ENST00000311127.4	-	17	4095	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1343					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R1343Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGTCCGTTTCGTTCAAGTTC	0.438																																					p.R1343Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4028A	3						.						111.0	107.0	108.0					3																	124689614		1882	4103	5985	126172304	SO:0001583	missense	57493	exon17			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.4028G>A	3.37:g.124689614C>T	ENSP00000311502:p.Arg1343Gln		126172304	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005748	0.93287	.	.	ENSG00000173706	ENST00000311127;ENST00000487661	D;T	0.91407	-2.84;0.69	5.28	4.39	0.52855	.	0.000000	0.33290	U	0.005067	D	0.90041	0.6890	N	0.14661	0.345	0.52099	D	0.999941	D	0.89917	1.0	D	0.72982	0.979	D	0.91270	0.5043	10	0.87932	D	0	.	13.6488	0.62299	0.0:0.9253:0.0:0.0747	.	1343	Q9ULI3	HEG1_HUMAN	Q	1343;227	ENSP00000311502:R1343Q;ENSP00000417648:R227Q	ENSP00000311502:R1343Q	R	-	2	0	HEG1	126172304	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	3.642000	0.54367	2.644000	0.89710	0.655000	0.94253	CGA		0.438	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
CHST13	166012	broad.mit.edu	37	3	126255175	126255175	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:126255175G>T	ENST00000319340.2	+	2	209	c.159G>T	c.(157-159)caG>caT	p.Q53H		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	53					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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.Q53H(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCCCCCTGCAGAAGCTCTATG	0.592																																					p.Q53H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G159T	3						.						111.0	110.0	110.0					3																	126255175		2203	4300	6503	127737865	SO:0001583	missense	166012	exon2			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.159G>T	3.37:g.126255175G>T	ENSP00000317404:p.Gln53His		127737865	NM_152889	Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547805	0.27652	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.69175	-0.38	3.18	2.3	0.28687	.	0.491092	0.19463	U	0.113646	T	0.71771	0.3379	L	0.47190	1.495	0.46061	D	0.998842	D	0.89917	1.0	D	0.91635	0.999	T	0.70260	-0.4921	10	0.66056	D	0.02	-10.9697	6.172	0.20422	0.1402:0.0:0.8598:0.0	.	53	Q8NET6	CHSTD_HUMAN	H	53	ENSP00000317404:Q53H	ENSP00000317404:Q53H	Q	+	3	2	CHST13	127737865	0.962000	0.33011	0.513000	0.27749	0.224000	0.24922	1.530000	0.36007	0.896000	0.36366	0.467000	0.42956	CAG		0.592	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
EFCAB12	90288	broad.mit.edu	37	3	129123229	129123229	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:129123229C>A	ENST00000505956.1	-	7	1429	c.1267G>T	c.(1267-1269)Gac>Tac	p.D423Y	EFCAB12_ENST00000326085.3_Missense_Mutation_p.D423Y	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	423							calcium ion binding (GO:0005509)	p.D423Y(1)									ATGATCTTGTCTCCTGGGTAC	0.557																																					p.D423Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1267T	3						.						86.0	90.0	89.0					3																	129123229		1928	4135	6063	130605919	SO:0001583	missense	90288	exon7			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1267G>T	3.37:g.129123229C>A	ENSP00000420854:p.Asp423Tyr		130605919	NM_207307	Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203795	0.38905	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.03212	4.01;4.01	4.43	4.43	0.53597	.	0.000000	0.47455	D	0.000235	T	0.10423	0.0255	L	0.34521	1.04	0.34025	D	0.653173	D	0.89917	1.0	D	0.91635	0.999	T	0.08827	-1.0703	10	0.87932	D	0	-34.9344	12.923	0.58243	0.0:1.0:0.0:0.0	.	423	Q6NXP0	CC025_HUMAN	Y	423	ENSP00000420854:D423Y;ENSP00000324241:D423Y	ENSP00000324241:D423Y	D	-	1	0	C3orf25	130605919	0.999000	0.42202	0.998000	0.56505	0.180000	0.23129	2.091000	0.41691	2.168000	0.68352	0.557000	0.71058	GAC		0.557	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307	
TRH	7200	broad.mit.edu	37	3	129695691	129695691	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:129695691G>T	ENST00000302649.3	+	3	888	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	TRH_ENST00000507066.1_Missense_Mutation_p.D117Y	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	121					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.D121Y(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCGACGAGAAGATGAGGCTTC	0.612																																					p.D121Y	Esophageal Squamous(60;321 1330 17401 41911)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G361T	3						.						67.0	60.0	62.0					3																	129695691		2203	4300	6503	131178381	SO:0001583	missense	7200	exon3				CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.361G>T	3.37:g.129695691G>T	ENSP00000303452:p.Asp121Tyr		131178381	NM_007117	B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654999	0.29425	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.48836	0.8;0.8	4.55	3.67	0.42095	.	0.634788	0.16959	N	0.192567	T	0.63920	0.2552	M	0.77820	2.39	0.23920	N	0.996465	D	0.61697	0.99	P	0.62649	0.905	T	0.55147	-0.8186	10	0.87932	D	0	-3.5786	8.8684	0.35300	0.1067:0.0:0.8933:0.0	.	121	P20396	TRH_HUMAN	Y	121;117	ENSP00000303452:D121Y;ENSP00000426522:D117Y	ENSP00000303452:D121Y	D	+	1	0	TRH	131178381	0.659000	0.27411	0.015000	0.15790	0.146000	0.21551	2.655000	0.46707	1.038000	0.40049	0.591000	0.81541	GAT		0.612	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
ASTE1	28990	broad.mit.edu	37	3	130735120	130735120	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:130735120G>A	ENST00000264992.3	-	5	2018	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	ATP2C1_ENST00000507488.2_3'UTR|ATP2C1_ENST00000422190.2_3'UTR|ATP2C1_ENST00000513801.1_3'UTR|ATP2C1_ENST00000393221.4_3'UTR|ATP2C1_ENST00000504381.1_3'UTR|ATP2C1_ENST00000328560.8_3'UTR|ASTE1_ENST00000514044.1_Missense_Mutation_p.A526V|ATP2C1_ENST00000533801.2_3'UTR|ATP2C1_ENST00000359644.3_3'UTR	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	526					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.A526V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CCGTGTCTGCGCCTTCACTCT	0.488																																					p.A526V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1577T	3						.						185.0	163.0	170.0					3																	130735120		2203	4300	6503	132217810	SO:0001583	missense	28990	exon5			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1577C>T	3.37:g.130735120G>A	ENSP00000264992:p.Ala526Val		132217810	NM_014065	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	8.689	0.907077	0.17833	.	.	ENSG00000034533	ENST00000514044;ENST00000264992	.	.	.	5.47	-1.57	0.08506	.	0.664644	0.15775	N	0.245257	T	0.21387	0.0515	L	0.28274	0.84	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.06405	0.0;0.002	T	0.34179	-0.9839	9	0.06365	T	0.9	-4.7575	8.0875	0.30782	0.0989:0.0645:0.6047:0.2319	.	526;526	D6RG30;Q2TB18	.;ASTE1_HUMAN	V	526	.	ENSP00000264992:A526V	A	-	2	0	ASTE1	132217810	0.165000	0.22948	0.087000	0.20705	0.004000	0.04260	0.317000	0.19487	-0.867000	0.04063	-2.560000	0.00174	GCG		0.488	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065	
DNAJC13	23317	broad.mit.edu	37	3	132209753	132209753	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:132209753G>T	ENST00000260818.6	+	32	3729	c.3481G>T	c.(3481-3483)Gat>Tat	p.D1161Y		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1161					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.D1161Y(1)|p.D544Y(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAAAGGACAAGATATTTTTCA	0.294																																					p.D1161Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3481T	3						.						24.0	26.0	25.0					3																	132209753		2194	4293	6487	133692443	SO:0001583	missense	23317	exon32			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3481G>T	3.37:g.132209753G>T	ENSP00000260818:p.Asp1161Tyr		133692443	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354292	0.82243	.	.	ENSG00000138246	ENST00000260818	T	0.19938	2.11	5.33	5.33	0.75918	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.41662	-0.9496	10	0.72032	D	0.01	.	19.0448	0.93015	0.0:0.0:1.0:0.0	.	1161	O75165	DJC13_HUMAN	Y	1161	ENSP00000260818:D1161Y	ENSP00000260818:D1161Y	D	+	1	0	DNAJC13	133692443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.495000	0.84180	0.591000	0.81541	GAT		0.294	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
TF	7018	broad.mit.edu	37	3	133476640	133476640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:133476640G>T	ENST00000402696.3	+	8	1383	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	TF_ENST00000264998.3_Nonsense_Mutation_p.E173*	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	300	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.E300*(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CAAATCAAAAGAATTCCAACT	0.438																																					p.E300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G898T	3						.						82.0	84.0	83.0					3																	133476640		2203	4300	6503	134959330	SO:0001587	stop_gained	7018	exon8				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.898G>T	3.37:g.133476640G>T	ENSP00000385834:p.Glu300*		134959330	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Nonsense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	39	7.705858	0.98444	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	.	.	.	4.91	2.86	0.33363	.	1.011170	0.07887	N	0.970523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.4879	8.6818	0.34214	0.0954:0.2016:0.703:0.0	.	.	.	.	X	300;173	.	ENSP00000264998:E173X	E	+	1	0	TF	134959330	0.000000	0.05858	0.002000	0.10522	0.549000	0.35272	0.001000	0.13038	1.320000	0.45209	0.561000	0.74099	GAA		0.438	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
EPHB1	2047	broad.mit.edu	37	3	134898789	134898789	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:134898789T>C	ENST00000398015.3	+	10	2217	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	EPHB1_ENST00000493838.1_Missense_Mutation_p.V177A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	616					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.V616A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGATTGATGTATCTTTTGTG	0.488																																					p.V616A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1847C	3						.						155.0	149.0	151.0					3																	134898789		1956	4168	6124	136381479	SO:0001583	missense	2047	exon10			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1847T>C	3.37:g.134898789T>C	ENSP00000381097:p.Val616Ala		136381479	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	6.218	0.408331	0.11754	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.08370	3.1;3.1	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.140958	0.46145	D	0.000316	T	0.04952	0.0133	N	0.15975	0.35	0.80722	D	1	B	0.32188	0.359	B	0.28553	0.091	T	0.16867	-1.0388	10	0.02654	T	1	.	16.1997	0.82060	0.0:0.0:0.0:1.0	.	616	P54762	EPHB1_HUMAN	A	616;177	ENSP00000381097:V616A;ENSP00000419574:V177A	ENSP00000381097:V616A	V	+	2	0	EPHB1	136381479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.240000	0.73641	0.528000	0.53228	GTA		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
MSL2	55167	broad.mit.edu	37	3	135870698	135870698	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:135870698C>T	ENST00000309993.2	-	2	1757	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	MSL2_ENST00000434835.2_Missense_Mutation_p.R268Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	342					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGATCTGGATCGTTTTCTATT	0.448																																					p.R342Q												.	.	0			c.G1025A	3						.						115.0	108.0	110.0					3																	135870698		2203	4300	6503	137353388	SO:0001583	missense	55167	exon2			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1025G>A	3.37:g.135870698C>T	ENSP00000311827:p.Arg342Gln		137353388	NM_018133	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622853	0.66901	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	6.03	4.25	0.50352	.	0.064514	0.64402	D	0.000005	T	0.37732	0.1014	L	0.36672	1.1	0.50313	D	0.999863	P	0.50272	0.933	B	0.33846	0.171	T	0.33904	-0.9850	9	0.72032	D	0.01	-0.5689	12.363	0.55213	0.0:0.8637:0.0:0.1363	.	342	Q9HCI7	MSL2_HUMAN	Q	342;268	.	ENSP00000311827:R342Q	R	-	2	0	MSL2	137353388	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.478000	0.81082	0.887000	0.36136	0.551000	0.68910	CGA		0.448	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133	
STAG1	10274	broad.mit.edu	37	3	136221553	136221553	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:136221553T>G	ENST00000383202.2	-	8	1001	c.745A>C	c.(745-747)Aga>Cga	p.R249R	STAG1_ENST00000236698.5_Silent_p.R249R|STAG1_ENST00000434713.2_Silent_p.R23R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	249					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.R249R(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						TCATATTGTCTCTGGGTATTA	0.383																																					p.R249R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A745C	3						.						128.0	120.0	123.0					3																	136221553		2203	4300	6503	137704243	SO:0001819	synonymous_variant	10274	exon8			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.745A>C	3.37:g.136221553T>G			137704243	NM_005862	O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																				0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
A4GNT	51146	broad.mit.edu	37	3	137843320	137843320	+	Missense_Mutation	SNP	C	C	T	rs570351376		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:137843320C>T	ENST00000236709.3	-	3	1010	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	270					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.R270H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCATAGTAGCGCCTCCACTC	0.498																																					p.R270H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G809A	3						.						92.0	89.0	90.0					3																	137843320		2203	4300	6503	139326010	SO:0001583	missense	51146	exon3			AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.809G>A	3.37:g.137843320C>T	ENSP00000236709:p.Arg270His		139326010	NM_016161	Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605401	0.66445	.	.	ENSG00000118017	ENST00000236709	D	0.82711	-1.64	5.39	2.31	0.28768	Alpha 1,4-glycosyltransferase domain (1);	0.403521	0.22739	N	0.056237	D	0.88179	0.6367	M	0.81239	2.535	0.18873	N	0.999985	D	0.89917	1.0	D	0.68621	0.959	T	0.77043	-0.2734	10	0.45353	T	0.12	-7.9379	6.5038	0.22184	0.2362:0.6206:0.0:0.1432	.	270	Q9UNA3	A4GCT_HUMAN	H	270	ENSP00000236709:R270H	ENSP00000236709:R270H	R	-	2	0	A4GNT	139326010	0.408000	0.25360	0.998000	0.56505	0.978000	0.69477	0.171000	0.16685	1.253000	0.44018	0.563000	0.77884	CGC		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161	
PIK3CB	5291	broad.mit.edu	37	3	138433373	138433373	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:138433373C>T	ENST00000477593.1	-	8	1312	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	PIK3CB_ENST00000289153.2_Silent_p.T413T|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	413	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.T413T(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTGATTTCTTCGTTTTTACTT	0.318																																					p.T413T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1239A	3						.						157.0	147.0	151.0					3																	138433373		2203	4300	6503	139916063	SO:0001819	synonymous_variant	5291	exon7				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1239G>A	3.37:g.138433373C>T			139916063	NM_006219	D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096752	0.20552	.	.	ENSG00000051382	ENST00000493568	.	.	.	5.46	-5.19	0.02832	.	.	.	.	.	T	0.38268	0.1034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40794	-0.9544	4	.	.	.	-12.2416	2.4988	0.04628	0.2374:0.1714:0.0912:0.5001	.	.	.	.	Q	62	.	.	R	-	2	0	PIK3CB	139916063	0.001000	0.12720	0.952000	0.39060	0.995000	0.86356	-1.420000	0.02457	-0.687000	0.05162	-0.143000	0.13931	CGA		0.318	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1		
GK5	256356	broad.mit.edu	37	3	141934529	141934529	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:141934529T>G	ENST00000392993.2	-	2	304	c.153A>C	c.(151-153)gaA>gaC	p.E51D	GK5_ENST00000544571.1_Missense_Mutation_p.E51D|GK5_ENST00000466685.3_5'UTR	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	51					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.E51D(1)		kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						GATAAAGATTTTCTACCTATT	0.318																																					p.E51D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A153C	3						.						36.0	37.0	37.0					3																	141934529		2198	4289	6487	143417219	SO:0001583	missense	256356	exon2			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"""Glycerol kinases"""	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.153A>C	3.37:g.141934529T>G	ENSP00000418001:p.Glu51Asp		143417219	NM_001039547	B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Missense_Mutation	SNP	ENST00000392993.2	37	CCDS33871.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138921	0.56936	.	.	ENSG00000175066	ENST00000392993;ENST00000544571	T;T	0.58210	0.35;0.35	5.42	3.05	0.35203	Carbohydrate kinase, FGGY, N-terminal (1);	0.443819	0.24172	N	0.040891	T	0.45478	0.1344	L	0.52364	1.645	0.43536	D	0.995824	B	0.15930	0.015	B	0.21546	0.035	T	0.32851	-0.9891	10	0.51188	T	0.08	-12.8003	8.9788	0.35953	0.0:0.1539:0.0:0.8461	.	51	Q6ZS86	GLPK5_HUMAN	D	51	ENSP00000418001:E51D;ENSP00000440860:E51D	ENSP00000418001:E51D	E	-	3	2	GK5	143417219	0.985000	0.35326	0.990000	0.47175	0.845000	0.48019	1.268000	0.33062	0.374000	0.24650	0.477000	0.44152	GAA		0.318	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353999.1	NM_001039547	
XRN1	54464	broad.mit.edu	37	3	142030480	142030480	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:142030480G>T	ENST00000264951.4	-	42	5111	c.4994C>A	c.(4993-4995)tCt>tAt	p.S1665Y	XRN1_ENST00000392981.2_Missense_Mutation_p.S1653Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1665					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.S1665Y(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						AACTTGAAAAGAAGATGCAGG	0.423																																					p.S1665Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4994A	3						.						134.0	140.0	138.0					3																	142030480		2203	4300	6503	143513170	SO:0001583	missense	54464	exon42			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.4994C>A	3.37:g.142030480G>T	ENSP00000264951:p.Ser1665Tyr		143513170	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	g	18.65	3.670517	0.67814	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.39787	1.06;1.07	5.65	5.65	0.86999	.	0.502596	0.21503	N	0.073482	T	0.45196	0.1330	L	0.29908	0.895	0.80722	D	1	D;D	0.56521	0.976;0.96	P;B	0.50617	0.646;0.443	T	0.44406	-0.9330	10	0.87932	D	0	-6.4562	17.9095	0.88929	0.0:0.0:1.0:0.0	.	1653;1665	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Y	1665;1653	ENSP00000264951:S1665Y;ENSP00000376707:S1653Y	ENSP00000264951:S1665Y	S	-	2	0	XRN1	143513170	1.000000	0.71417	0.700000	0.30305	0.808000	0.45660	3.906000	0.56340	2.666000	0.90696	0.651000	0.88453	TCT		0.423	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
ATR	545	broad.mit.edu	37	3	142268985	142268985	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:142268985G>A	ENST00000350721.4	-	14	3086	c.2965C>T	c.(2965-2967)Cgt>Tgt	p.R989C	ATR_ENST00000383101.3_Missense_Mutation_p.R925C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	989					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.R989C(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						GTAAGAAAACGATTAAGATCA	0.358								Other conserved DNA damage response genes																													p.R989C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2965T	3						.						101.0	92.0	95.0					3																	142268985		2203	4300	6503	143751675	SO:0001583	missense	545	exon14			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.2965C>T	3.37:g.142268985G>A	ENSP00000343741:p.Arg989Cys		143751675	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082204	0.94050	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.64991	-0.13;-0.13	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.055191	0.64402	D	0.000001	T	0.62060	0.2397	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.50791	0.65	T	0.65994	-0.6033	10	0.62326	D	0.03	-11.8232	19.529	0.95219	0.0:0.0:1.0:0.0	.	989	Q13535	ATR_HUMAN	C	989;925	ENSP00000343741:R989C;ENSP00000372581:R925C	ENSP00000343741:R989C	R	-	1	0	ATR	143751675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.604000	0.88044	0.585000	0.79938	CGT		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
U2SURP	23350	broad.mit.edu	37	3	142733211	142733211	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:142733211G>A	ENST00000473835.2	+	4	371	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R94Q	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	94					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R94Q(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						ACAGCTAAGCGAACTTTAAGT	0.294																																					p.R94Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	3						.						53.0	49.0	51.0					3																	142733211		1811	4074	5885	144215901	SO:0001583	missense	23350	exon4			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.281G>A	3.37:g.142733211G>A	ENSP00000418563:p.Arg94Gln		144215901	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670812	0.96754	.	.	ENSG00000163714	ENST00000473835;ENST00000493782;ENST00000319822;ENST00000493598;ENST00000465175	T;T	0.11495	2.77;2.79	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.35038	0.0918	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;P	0.64776	0.929;0.913;0.806	T	0.01961	-1.1239	10	0.48119	T	0.1	-8.5639	19.7727	0.96373	0.0:0.0:1.0:0.0	.	94;94;94	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	Q	94;94;94;94;64	ENSP00000418563:R94Q;ENSP00000422011:R94Q	ENSP00000322376:R94Q	R	+	2	0	U2SURP	144215901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.301000	0.96167	2.758000	0.94735	0.563000	0.77884	CGA		0.294	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
PLSCR4	57088	broad.mit.edu	37	3	145917794	145917794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:145917794C>A	ENST00000354952.2	-	6	670	c.430G>T	c.(430-432)Gat>Tat	p.D144Y	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.D144Y|PLSCR4_ENST00000493382.1_Missense_Mutation_p.D144Y|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	144					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.D144Y(2)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TTTTTAATATCATATCTATTA	0.353																																					p.D144Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G430T	3						.						53.0	55.0	54.0					3																	145917794		2203	4300	6503	147400484	SO:0001583	missense	57088	exon6			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.430G>T	3.37:g.145917794C>A	ENSP00000347038:p.Asp144Tyr		147400484	NM_020353	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378744	0.82682	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.94;1.94	4.87	4.87	0.63330	.	0.089923	0.48767	D	0.000178	T	0.49115	0.1538	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.49283	-0.8956	10	0.87932	D	0	.	17.3112	0.87211	0.0:1.0:0.0:0.0	.	144	Q9NRQ2	PLS4_HUMAN	Y	144	ENSP00000347038:D144Y;ENSP00000399315:D144Y;ENSP00000419040:D144Y;ENSP00000417896:D144Y;ENSP00000418173:D144Y	ENSP00000347038:D144Y	D	-	1	0	PLSCR4	147400484	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.549000	0.60726	2.683000	0.91414	0.655000	0.94253	GAT		0.353	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353	
PLSCR4	57088	broad.mit.edu	37	3	145918846	145918846	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:145918846G>T	ENST00000354952.2	-	5	613	c.373C>A	c.(373-375)Ctt>Att	p.L125I	PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000446574.2_Missense_Mutation_p.L125I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.L125I|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	125					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)	p.L125I(1)		kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGCTGAAGAACATGTATG	0.318																																					p.L125I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C373A	3						.						80.0	85.0	84.0					3																	145918846		2203	4295	6498	147401536	SO:0001583	missense	57088	exon5			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.373C>A	3.37:g.145918846G>T	ENSP00000347038:p.Leu125Ile		147401536	NM_020353	A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269079	0.40095	.	.	ENSG00000114698	ENST00000354952;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000476202;ENST00000481701	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.25	4.38	0.52667	.	0.359219	0.23702	N	0.045404	T	0.13756	0.0333	N	0.16478	0.41	0.80722	D	1	B	0.22080	0.064	B	0.20767	0.031	T	0.05716	-1.0868	10	0.49607	T	0.09	.	11.1862	0.48657	0.0856:0.0:0.9144:0.0	.	125	Q9NRQ2	PLS4_HUMAN	I	125	ENSP00000347038:L125I;ENSP00000399315:L125I;ENSP00000419040:L125I;ENSP00000417896:L125I;ENSP00000418173:L125I;ENSP00000418419:L125I	ENSP00000347038:L125I	L	-	1	0	PLSCR4	147401536	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.512000	0.53407	1.451000	0.47736	-0.140000	0.14226	CTT		0.318	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353	
HPS3	84343	broad.mit.edu	37	3	148889925	148889925	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:148889925C>A	ENST00000296051.2	+	17	3071	c.2931C>A	c.(2929-2931)ttC>ttA	p.F977L	HPS3_ENST00000460120.1_Missense_Mutation_p.F812L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	977					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.F977L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGAAGGATTTCATGAATGTTC	0.338									Hermansky-Pudlak syndrome																												p.F977L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2931A	3						.						118.0	114.0	115.0					3																	148889925		2202	4300	6502	150372615	SO:0001583	missense	84343	exon17	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2931C>A	3.37:g.148889925C>A	ENSP00000296051:p.Phe977Leu		150372615	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775529	0.70107	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.61274	0.14;0.12	5.94	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69778	-0.5053	10	0.87932	D	0	-27.2798	9.1469	0.36939	0.0:0.7254:0.0:0.2746	.	812;977	G5E9V4;Q969F9	.;HPS3_HUMAN	L	977;812	ENSP00000296051:F977L;ENSP00000418230:F812L	ENSP00000296051:F977L	F	+	3	2	HPS3	150372615	0.978000	0.34361	0.972000	0.41901	0.986000	0.74619	1.308000	0.33528	0.418000	0.25898	0.557000	0.71058	TTC		0.338	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
CP	1356	broad.mit.edu	37	3	148927157	148927157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:148927157C>A	ENST00000264613.6	-	4	884	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	208	F5/8 type A 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.E208*(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)	TTTTCTTTTTCTTTATCTAGA	0.303																																					p.E208X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G622T	3						.						52.0	52.0	52.0					3																	148927157		2203	4299	6502	150409847	SO:0001587	stop_gained	1356	exon4			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.622G>T	3.37:g.148927157C>A	ENSP00000264613:p.Glu208*		150409847	NM_000096	Q14063|Q2PP18|Q9UKS4	Nonsense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	39	7.308805	0.98203	.	.	ENSG00000047457	ENST00000264613	.	.	.	5.48	5.48	0.80851	.	0.352875	0.31472	N	0.007589	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-25.6999	12.9942	0.58638	0.0:0.9258:0.0:0.0742	.	.	.	.	X	208	.	ENSP00000264613:E208X	E	-	1	0	CP	150409847	0.983000	0.35010	0.975000	0.42487	0.662000	0.39071	3.336000	0.52113	2.703000	0.92315	0.650000	0.86243	GAA		0.303	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
GPR87	53836	broad.mit.edu	37	3	151012745	151012745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151012745G>A	ENST00000260843.4	-	3	753	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	97					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R97*(1)		endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGACTATTCGAAATGGAAAT	0.373																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	3						.						137.0	137.0	137.0					3																	151012745		2203	4300	6503	152495435	SO:0001587	stop_gained	53836	exon3			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.289C>T	3.37:g.151012745G>A	ENSP00000260843:p.Arg97*		152495435	NM_023915	Q5KU35|Q96JZ8|Q9BXC2	Nonsense_Mutation	SNP	ENST00000260843.4	37	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	G	36	5.860041	0.97036	.	.	ENSG00000138271	ENST00000260843	.	.	.	5.31	2.19	0.27852	.	0.072417	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-4.6222	13.7861	0.63110	0.0:0.0:0.3072:0.6928	.	.	.	.	X	97	.	ENSP00000260843:R97X	R	-	1	2	GPR87	152495435	0.745000	0.28261	0.870000	0.34147	0.821000	0.46438	2.793000	0.47845	0.654000	0.30846	-0.181000	0.13052	CGA		0.373	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		
IGSF10	285313	broad.mit.edu	37	3	151156065	151156065	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151156065C>A	ENST00000282466.3	-	6	6283	c.6284G>T	c.(6283-6285)aGa>aTa	p.R2095I	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	2095	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R2095I(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)			AAGGGTATATCTCCTAGTCCT	0.473																																					p.R122I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G365T	3						.						150.0	146.0	147.0					3																	151156065		2203	4300	6503	152638755	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.6284G>T	3.37:g.151156065C>A	ENSP00000282466:p.Arg2095Ile		152638755	NM_001178145	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123657	0.56613	.	.	ENSG00000152580	ENST00000282466	T	0.40756	1.02	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000147	T	0.73140	0.3549	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.77300	-0.2639	10	0.62326	D	0.03	.	20.0375	0.97569	0.0:1.0:0.0:0.0	.	2095;122	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	I	2095	ENSP00000282466:R2095I	ENSP00000282466:R2095I	R	-	2	0	IGSF10	152638755	0.915000	0.31059	0.039000	0.18376	0.069000	0.16628	3.087000	0.50167	2.739000	0.93911	0.655000	0.94253	AGA		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151156327	151156327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151156327C>A	ENST00000282466.3	-	6	6021	c.6022G>T	c.(6022-6024)Gaa>Taa	p.E2008*	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	2008	Ig-like C2-type 6.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E2008*(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)			CTGTCTTTTTCTGTTACTGAT	0.433																																					p.E35X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G103T	3						.						123.0	117.0	119.0					3																	151156327		2203	4300	6503	152639017	SO:0001587	stop_gained	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.6022G>T	3.37:g.151156327C>A	ENSP00000282466:p.Glu2008*		152639017	NM_001178145	Q86YJ9|Q8N772|Q8NA84	Nonsense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	47	13.583937	0.99751	.	.	ENSG00000152580	ENST00000282466	.	.	.	5.52	5.52	0.82312	.	0.148628	0.30704	N	0.009060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.4344	0.94785	0.0:1.0:0.0:0.0	.	.	.	.	X	2008	.	ENSP00000282466:E2008X	E	-	1	0	IGSF10	152639017	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.440000	0.80464	2.589000	0.87451	0.655000	0.94253	GAA		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151163870	151163870	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151163870C>A	ENST00000282466.3	-	4	3898	c.3899G>T	c.(3898-3900)aGt>aTt	p.S1300I		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	1300					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1300I(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)			GCTTATAATACTAGGAAGCAT	0.438																																					p.S1300I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3899T	3						.						253.0	235.0	241.0					3																	151163870		2203	4300	6503	152646560	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.3899G>T	3.37:g.151163870C>A	ENSP00000282466:p.Ser1300Ile		152646560	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085337	0.20390	.	.	ENSG00000152580	ENST00000282466	T	0.69685	-0.42	4.51	1.65	0.23941	.	0.745647	0.11787	N	0.529610	T	0.56963	0.2021	L	0.32530	0.975	0.09310	N	1	B	0.30021	0.265	B	0.36608	0.229	T	0.51036	-0.8756	10	0.49607	T	0.09	.	8.5502	0.33447	0.0:0.6435:0.0:0.3565	.	1300	Q6WRI0	IGS10_HUMAN	I	1300	ENSP00000282466:S1300I	ENSP00000282466:S1300I	S	-	2	0	IGSF10	152646560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.398000	0.07259	0.123000	0.18342	-1.094000	0.02160	AGT		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151166618	151166618	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151166618G>A	ENST00000282466.3	-	4	1150	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F		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	384					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S384F(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)			TATCAGAGGAGAATCACTGTA	0.398																																					p.S384F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1151T	3						.						82.0	77.0	79.0					3																	151166618		2203	4300	6503	152649308	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.1151C>T	3.37:g.151166618G>A	ENSP00000282466:p.Ser384Phe		152649308	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668189	0.67814	.	.	ENSG00000152580	ENST00000282466	T	0.72725	-0.68	5.22	5.22	0.72569	.	0.142496	0.32533	N	0.005976	T	0.64260	0.2582	L	0.50333	1.59	0.42812	D	0.993963	P	0.37441	0.595	B	0.31016	0.123	T	0.64728	-0.6339	10	0.29301	T	0.29	.	18.7742	0.91904	0.0:0.0:1.0:0.0	.	384	Q6WRI0	IGS10_HUMAN	F	384	ENSP00000282466:S384F	ENSP00000282466:S384F	S	-	2	0	IGSF10	152649308	1.000000	0.71417	0.984000	0.44739	0.715000	0.41141	6.404000	0.73268	2.447000	0.82792	0.650000	0.86243	TCT		0.398	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
METTL6	131965	broad.mit.edu	37	3	15455639	15455639	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:15455639G>A	ENST00000443029.1	-	5	802	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	METTL6_ENST00000383790.3_Missense_Mutation_p.R188C|METTL6_ENST00000450816.2_Missense_Mutation_p.R143C			Q8TCB7	METL6_HUMAN	methyltransferase like 6	188							methyltransferase activity (GO:0008168)	p.R188C(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CCGTAGTCACGAAACAAGACA	0.383																																					p.R188C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562T	3						.						107.0	97.0	100.0					3																	15455639		1860	4105	5965	15430643	SO:0001583	missense	131965	exon5			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.562C>T	3.37:g.15455639G>A	ENSP00000407613:p.Arg188Cys		15430643	NM_152396	Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	CCDS43056.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.954289|3.954289	0.73902|0.73902	.|.	.|.	ENSG00000206562|ENSG00000206562	ENST00000383790;ENST00000450816|ENST00000458728	T;T|.	0.13778|.	3.77;2.56|.	5.63|5.63	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87087|0.87087	0.6090|0.6090	H|H	0.97440|0.97440	4.005|4.005	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	D|D	0.90077|0.90077	0.4167|0.4167	10|5	0.87932|.	D|.	0|.	-11.7617|-11.7617	12.0981|12.0981	0.53767|0.53767	0.0:0.0:0.6869:0.3131|0.0:0.0:0.6869:0.3131	.|.	143;188|.	B4DDX3;Q8TCB7|.	.;METL6_HUMAN|.	C|L	188;143|56	ENSP00000373300:R188C;ENSP00000410726:R143C|.	ENSP00000373300:R188C|.	R|S	-|-	1|2	0|0	METTL6|METTL6	15430643|15430643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.650000|0.650000	0.38633|0.38633	3.212000|3.212000	0.51145|0.51145	2.803000|2.803000	0.96430|0.96430	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.383	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396	
SUCNR1	56670	broad.mit.edu	37	3	151598976	151598976	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:151598976G>T	ENST00000362032.5	+	3	750	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	215						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K215N(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TCTTCCTAAAGCAGAGGAATA	0.423																																					p.K215N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645T	3						.						164.0	153.0	157.0					3																	151598976		2203	4300	6503	153081666	SO:0001583	missense	56670	exon3			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.645G>T	3.37:g.151598976G>T	ENSP00000355156:p.Lys215Asn		153081666	NM_033050	A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902963	0.52227	.	.	ENSG00000198829	ENST00000362032	T	0.39056	1.1	5.46	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.249450	0.35646	U	0.003077	T	0.52693	0.1750	L	0.56199	1.76	0.28579	N	0.910254	D	0.71674	0.998	D	0.69824	0.966	T	0.43130	-0.9410	10	0.40728	T	0.16	.	7.7585	0.28938	0.364:0.0:0.636:0.0	.	215	Q9BXA5	SUCR1_HUMAN	N	215	ENSP00000355156:K215N	ENSP00000355156:K215N	K	+	3	2	SUCNR1	153081666	0.281000	0.24258	0.954000	0.39281	0.749000	0.42624	0.503000	0.22610	1.381000	0.46364	0.650000	0.86243	AAG		0.423	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
MME	4311	broad.mit.edu	37	3	154859897	154859897	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:154859897C>A	ENST00000460393.1	+	11	1195	c.1075C>A	c.(1075-1077)Ctt>Att	p.L359I	MME_ENST00000360490.2_Missense_Mutation_p.L359I|MME_ENST00000493237.1_Missense_Mutation_p.L359I|MME_ENST00000462745.1_Missense_Mutation_p.L359I|MME_ENST00000492661.1_Missense_Mutation_p.L359I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	359					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.L359I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TAAGCCCATTCTTACCAAATA	0.368																																					p.L359I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075A	3						.						170.0	173.0	172.0					3																	154859897		2203	4300	6503	156342591	SO:0001583	missense	4311	exon11				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1075C>A	3.37:g.154859897C>A	ENSP00000418525:p.Leu359Ile		156342591	NM_000902	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582832	0.28268	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	6.02	6.02	0.97574	Peptidase M13 (1);	0.069412	0.56097	D	0.000021	T	0.75347	0.3837	L	0.28458	0.855	0.80722	D	1	B	0.23316	0.083	B	0.41894	0.369	T	0.65001	-0.6274	10	0.05436	T	0.98	-22.1291	20.5269	0.99230	0.0:1.0:0.0:0.0	.	359	P08473	NEP_HUMAN	I	359	ENSP00000420389:L359I;ENSP00000418525:L359I;ENSP00000419653:L359I;ENSP00000417079:L359I;ENSP00000353679:L359I	ENSP00000353679:L359I	L	+	1	0	MME	156342591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.321000	0.43805	2.859000	0.98148	0.591000	0.81541	CTT		0.368	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902	
LEKR1	389170	broad.mit.edu	37	3	156746009	156746009	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:156746009G>T	ENST00000470811.1	+	13	1909	c.574G>T	c.(574-576)Gaa>Taa	p.E192*	LEKR1_ENST00000356539.4_Nonsense_Mutation_p.E496*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	192										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGGAAAAAGAAATTGAAAA	0.343																																					p.E496X												.	.	0			c.G1486T	3						.						44.0	47.0	46.0					3																	156746009		2202	4299	6501	158228703	SO:0001587	stop_gained	389170	exon12			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.574G>T	3.37:g.156746009G>T	ENSP00000418214:p.Glu192*		158228703	NM_001004316		Nonsense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	G	38	6.720829	0.97788	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	.	.	.	5.48	4.59	0.56863	.	0.099800	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.6169	14.1888	0.65625	0.0:0.1497:0.8503:0.0	.	.	.	.	X	192;496	.	ENSP00000348936:E496X	E	+	1	0	LEKR1	158228703	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.311000	0.59147	1.280000	0.44463	0.655000	0.94253	GAA		0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
CCNL1	57018	broad.mit.edu	37	3	156867317	156867317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:156867317C>A	ENST00000295926.3	-	9	1208	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Nonsense_Mutation_p.E364*	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	364					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.E364*(1)		NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TCCTCAGGTTCTTTTTTGACT	0.358																																					p.E364X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1090T	3						.						149.0	140.0	143.0					3																	156867317		2203	4300	6503	158350011	SO:0001587	stop_gained	57018	exon9			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1090G>T	3.37:g.156867317C>A	ENSP00000295926:p.Glu364*		158350011	NM_020307	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Nonsense_Mutation	SNP	ENST00000295926.3	37	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	38	7.234485	0.98154	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	.	.	.	5.68	5.68	0.88126	.	0.093640	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-18.288	19.8158	0.96568	0.0:1.0:0.0:0.0	.	.	.	.	X	364	.	ENSP00000295926:E364X	E	-	1	0	CCNL1	158350011	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.139000	0.77314	2.680000	0.91292	0.655000	0.94253	GAA		0.358	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307	
MFSD1	64747	broad.mit.edu	37	3	158527032	158527032	+	Nonsense_Mutation	SNP	G	G	T	rs367562194		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:158527032G>T	ENST00000264266.8	+	6	567	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	MFSD1_ENST00000392813.4_Nonsense_Mutation_p.E179*|MFSD1_ENST00000415822.2_Nonsense_Mutation_p.E218*			Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	169					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.E169*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAAGGCAAAGAATTAAACCT	0.358																																					p.E218X	Pancreas(62;1186 1654 36636 37908)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G652T	3						.	G	stop/GLU,stop/GLU	0,4406		0,0,2203	109.0	111.0	111.0		535,652	4.7	1.0	3		111	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	MFSD1	NM_001167903.1,NM_022736.2	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	179/476,218/515	158527032	1,13005	2203	4300	6503	160009726	SO:0001587	stop_gained	64747	exon6			BC017661	CCDS3185.1, CCDS3185.2, CCDS54666.1	3q25.32	2005-11-17			ENSG00000118855	ENSG00000118855			25874	protein-coding gene	gene with protein product							Standard	NM_022736		Approved	FLJ14153, UG0581B09	uc003fcl.2	Q9H3U5	OTTHUMG00000158835	ENST00000264266.8:c.505G>T	3.37:g.158527032G>T	ENSP00000264266:p.Glu169*		160009726	NM_022736	B4DGJ8|B4DMR8|B4DU49|B4DWU1|C9JS94|J3KQL7|Q05C07|Q5XKJ1|Q8IVS1|Q8IXG4|Q9H7X1	Nonsense_Mutation	SNP	ENST00000264266.8	37		.	.	.	.	.	.	.	.	.	.	G	37	6.401265	0.97537	0.0	1.16E-4	ENSG00000118855	ENST00000415822;ENST00000392813;ENST00000264266;ENST00000474670;ENST00000477743	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.3382	17.627	0.88096	0.0:0.0:1.0:0.0	.	.	.	.	X	218;179;169;142;3	.	ENSP00000264266:E169X	E	+	1	0	MFSD1	160009726	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.293000	0.96082	2.308000	0.77769	0.462000	0.41574	GAA		0.358	MFSD1-018	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470730.1	NM_022736	
IQCJ	654502	broad.mit.edu	37	3	158970581	158970581	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:158970581A>G	ENST00000451172.1	+	3	245	c.140A>G	c.(139-141)gAa>gGa	p.E47G	IQCJ_ENST00000482126.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ_ENST00000397832.2_Missense_Mutation_p.E47G|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E47G|IQCJ_ENST00000481796.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	47	IQ.							p.E47G(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CAGCCCTTGGAATCAAAGGTG	0.343																																					p.E47G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A140G	3						.						83.0	79.0	81.0					3																	158970581		1828	4083	5911	160453275	SO:0001583	missense	29970	exon3			DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.140A>G	3.37:g.158970581A>G	ENSP00000402153:p.Glu47Gly		160453275	NM_001197113	B7ZMM2|B9EH97|Q1A5X5	Missense_Mutation	SNP	ENST00000451172.1	37	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461370	0.84317	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216	ENST00000471575;ENST00000485419;ENST00000483486;ENST00000488898;ENST00000397832;ENST00000451172	T	0.46451	0.87	5.66	5.66	0.87406	.	0.371727	0.23463	U	0.047901	T	0.53238	0.1784	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.979	D;P;P	0.78314	0.991;0.856;0.666	T	0.56938	-0.7896	10	0.87932	D	0	.	14.8842	0.70555	1.0:0.0:0.0:0.0	.	47;47;47	Q9P0W5-5;Q1A5X6;Q1A5X6-2	.;IQCJ_HUMAN;.	G	47;47;47;18;47;47	ENSP00000420182:E47G	ENSP00000380932:E47G	E	+	2	0	IQCJ-SCHIP1;IQCJ	160453275	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.930000	0.70104	2.153000	0.67306	0.460000	0.39030	GAA		0.343	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1	
IFT80	57560	broad.mit.edu	37	3	160073831	160073831	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:160073831A>C	ENST00000326448.7	-	8	1179	c.747T>G	c.(745-747)ttT>ttG	p.F249L	IFT80_ENST00000483465.1_Missense_Mutation_p.F112L|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.F420L|IFT80_ENST00000496589.1_Missense_Mutation_p.F112L	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	249					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.F249L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTAAAGTATGAAACGATCCAA	0.433																																					p.F112L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T336G	3						.						141.0	128.0	132.0					3																	160073831		2203	4300	6503	161556525	SO:0001583	missense	57560	exon7			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.747T>G	3.37:g.160073831A>C	ENSP00000312778:p.Phe249Leu		161556525	NM_001190242	B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543501	0.65198	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589;ENST00000465537	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.28	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.089503	0.43747	U	0.000523	T	0.48314	0.1493	L	0.57536	1.79	0.58432	D	0.999999	B	0.19200	0.034	B	0.19666	0.026	T	0.31724	-0.9933	10	0.11794	T	0.64	.	8.7677	0.34713	0.8324:0.0:0.1676:0.0	.	249	Q9P2H3	IFT80_HUMAN	L	249;112;112;112	ENSP00000312778:F249L;ENSP00000418196:F112L;ENSP00000420646:F112L;ENSP00000418602:F112L	ENSP00000312778:F249L	F	-	3	2	IFT80	161556525	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	1.837000	0.39201	0.847000	0.35167	0.482000	0.46254	TTT		0.433	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800	
ZBBX	79740	broad.mit.edu	37	3	167016185	167016185	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:167016185C>A	ENST00000392766.2	-	18	2127	c.1787G>T	c.(1786-1788)aGa>aTa	p.R596I	ZBBX_ENST00000392764.1_Missense_Mutation_p.R567I|ZBBX_ENST00000307529.5_Missense_Mutation_p.R596I|ZBBX_ENST00000392767.2_Missense_Mutation_p.R596I|ZBBX_ENST00000455345.2_Missense_Mutation_p.R596I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	596						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R596I(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATAAAGAATCTCTCAAGTCC	0.303																																					p.R596I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G1787T	3						.						132.0	134.0	134.0					3																	167016185		1828	4070	5898	168498879	SO:0001583	missense	79740	exon18			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.1787G>T	3.37:g.167016185C>A	ENSP00000376519:p.Arg596Ile		168498879	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451207	0.63290	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.12569	2.84;2.84;2.86;2.86;2.67	4.9	-0.367	0.12541	.	0.319140	0.32548	N	0.005959	T	0.11024	0.0269	L	0.50333	1.59	0.33545	D	0.595343	B;B	0.26809	0.16;0.099	B;B	0.29598	0.104;0.027	T	0.07139	-1.0788	10	0.66056	D	0.02	-3.4584	4.1053	0.10033	0.1591:0.4484:0.0:0.3924	.	596;596	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	596;596;596;596;567	ENSP00000376519:R596I;ENSP00000376520:R596I;ENSP00000390232:R596I;ENSP00000305065:R596I;ENSP00000376517:R567I	ENSP00000305065:R596I	R	-	2	0	ZBBX	168498879	0.903000	0.30736	0.959000	0.39883	0.981000	0.71138	-0.088000	0.11198	-0.055000	0.13244	0.591000	0.81541	AGA		0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
SERPINI1	5274	broad.mit.edu	37	3	167543043	167543043	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:167543043C>A	ENST00000295777.5	+	9	1596	c.1165C>A	c.(1165-1167)Cta>Ata	p.L389I	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.L389I	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	389					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L389I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGGTACAATTCTATTCATGGG	0.308																																					p.L389I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1165A	3						.						115.0	118.0	117.0					3																	167543043		2203	4300	6503	169025737	SO:0001583	missense	5274	exon9			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1165C>A	3.37:g.167543043C>A	ENSP00000295777:p.Leu389Ile		169025737	NM_001122752	A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.30|12.30	1.895135|1.895135	0.33442|0.33442	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	D;D|.	0.90955|.	-2.76;-2.76|.	5.71|5.71	3.54|3.54	0.40534|0.40534	Serpin domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64713|0.64713	0.2623|0.2623	M|M	0.82193|0.82193	2.58|2.58	0.54753|0.54753	D|D	0.999989|0.999989	B|.	0.20164|.	0.042|.	B|.	0.35278|.	0.199|.	T|T	0.65940|0.65940	-0.6046|-0.6046	10|5	0.56958|.	D|.	0.05|.	.|.	2.2255|2.2255	0.03983|0.03983	0.2346:0.3206:0.0:0.4448|0.2346:0.3206:0.0:0.4448	.|.	389|.	Q99574|.	NEUS_HUMAN|.	I|Y	389;389;137|97	ENSP00000397373:L389I;ENSP00000295777:L389I|.	ENSP00000295777:L389I|.	L|S	+|+	1|2	2|0	SERPINI1|SERPINI1	169025737|169025737	0.995000|0.995000	0.38212|0.38212	0.842000|0.842000	0.33263|0.33263	0.644000|0.644000	0.38419|0.38419	0.363000|0.363000	0.20301|0.20301	1.279000|1.279000	0.44446|0.44446	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.308	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		
SLC2A2	6514	broad.mit.edu	37	3	170715808	170715808	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:170715808T>C	ENST00000314251.3	-	11	1538	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A	RNU1-70P_ENST00000362618.1_RNA|SLC2A2_ENST00000382808.4_Missense_Mutation_p.T368A	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	487					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.T487A(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)	TTTCCTTTGGTTTCTGGAACT	0.433																																					p.T487A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1459G	3						.						54.0	58.0	56.0					3																	170715808		2202	4300	6502	172198502	SO:0001583	missense	6514	exon11			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.1459A>G	3.37:g.170715808T>C	ENSP00000323568:p.Thr487Ala		172198502	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996590	0.93167	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.80994	-1.44;-1.44	6.17	6.17	0.99709	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95647	0.8703	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	487	P11168	GTR2_HUMAN	A	487;368	ENSP00000323568:T487A;ENSP00000372258:T368A	ENSP00000323568:T487A	T	-	1	0	SLC2A2	172198502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.484000	0.81180	2.371000	0.80710	0.533000	0.62120	ACC		0.433	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
SLC2A2	6514	broad.mit.edu	37	3	170723155	170723155	+	Silent	SNP	G	G	T	rs200467142		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:170723155G>T	ENST00000314251.3	-	7	961	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SLC2A2_ENST00000382808.4_Silent_p.L175L	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	294					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.L294L(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)	AATTGGTGAAGAGCTGAATTA	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17043	0.0		0.0	False		,,,				2504	0.0				p.L294L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882A	3						.						219.0	194.0	202.0					3																	170723155		2203	4300	6503	172205849	SO:0001819	synonymous_variant	6514	exon7			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.882C>A	3.37:g.170723155G>T			172205849	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	CCDS3215.1																																																																																				0.413	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
SLC2A2	6514	broad.mit.edu	37	3	170723873	170723873	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:170723873A>C	ENST00000314251.3	-	6	713	c.634T>G	c.(634-636)Ttg>Gtg	p.L212V	SLC2A2_ENST00000382808.4_Missense_Mutation_p.L93V	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	212					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.L212V(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)	TAATTGCCCAAGATAAATTCA	0.403																																					p.L212V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T634G	3						.						91.0	83.0	86.0					3																	170723873		2203	4299	6502	172206567	SO:0001583	missense	6514	exon6			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.634T>G	3.37:g.170723873A>C	ENSP00000323568:p.Leu212Val		172206567	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.215868	0.39102	.	.	ENSG00000163581	ENST00000314251;ENST00000382808;ENST00000461867	T;T;T	0.74632	-0.86;-0.86;-0.86	5.62	1.73	0.24493	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.062053	0.64402	D	0.000004	D	0.85847	0.5792	M	0.88310	2.945	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	D	0.85560	0.1227	10	0.87932	D	0	.	10.8028	0.46497	0.2897:0.0:0.7103:0.0	.	212	P11168	GTR2_HUMAN	V	212;93;39	ENSP00000323568:L212V;ENSP00000372258:L93V;ENSP00000418888:L39V	ENSP00000323568:L212V	L	-	1	2	SLC2A2	172206567	1.000000	0.71417	0.913000	0.36048	0.156000	0.22039	2.305000	0.43664	0.108000	0.17862	-0.874000	0.02982	TTG		0.403	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
TBC1D5	9779	broad.mit.edu	37	3	17415983	17415983	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:17415983A>C	ENST00000253692.7	-	12	2466	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V	TBC1D5_ENST00000429924.2_Missense_Mutation_p.F220V|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.F268V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.F268V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	268	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.F268V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCATGCTCAAAAGTTGAAAAC	0.313																																					p.F268V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T802G	3						.						64.0	64.0	64.0					3																	17415983		2202	4295	6497	17390987	SO:0001583	missense	9779	exon12			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.802T>G	3.37:g.17415983A>C	ENSP00000253692:p.Phe268Val		17390987	NM_001134380	A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107229	0.37145	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.44	5.44	0.79542	Rab-GAP/TBC domain (4);	0.046386	0.85682	D	0.000000	T	0.28267	0.0698	M	0.77406	2.37	0.80722	D	1	B;B;B	0.30146	0.039;0.014;0.27	B;B;B	0.38755	0.103;0.063;0.281	T	0.06250	-1.0837	10	0.17369	T	0.5	-21.1655	15.804	0.78477	1.0:0.0:0.0:0.0	.	220;268;268	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	V	268;268;268;220	ENSP00000253692:F268V;ENSP00000398127:F268V;ENSP00000402935:F268V;ENSP00000411925:F220V	ENSP00000253692:F268V	F	-	1	0	TBC1D5	17390987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.767000	0.91732	2.193000	0.70182	0.533000	0.62120	TTT		0.313	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
TNIK	23043	broad.mit.edu	37	3	170912393	170912393	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:170912393A>G	ENST00000436636.2	-	5	682	c.338T>C	c.(337-339)gTc>gCc	p.V113A	TNIK_ENST00000470834.1_Missense_Mutation_p.V113A|TNIK_ENST00000538048.1_Missense_Mutation_p.V113A|TNIK_ENST00000369326.5_Missense_Mutation_p.V113A|TNIK_ENST00000357327.5_Missense_Mutation_p.V113A|TNIK_ENST00000460047.1_Missense_Mutation_p.V113A|TNIK_ENST00000488470.1_Missense_Mutation_p.V113A|TNIK_ENST00000341852.6_Missense_Mutation_p.V113A|TNIK_ENST00000284483.8_Missense_Mutation_p.V113A|TNIK_ENST00000475336.1_Missense_Mutation_p.V113A	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.V113A(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)			CAGGTCGGTGACAGAGCCAGC	0.453																																					p.V113A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T338C	3						.						177.0	179.0	178.0					3																	170912393		1989	4156	6145	172395087	SO:0001583	missense	23043	exon5			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.338T>C	3.37:g.170912393A>G	ENSP00000399511:p.Val113Ala		172395087	NM_001161565	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959316	0.92726	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79;2.48	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.42686	1.345	0.80722	D	1	P;D;D;D;D;D;D;D	0.69078	0.693;0.98;0.997;0.994;0.98;0.98;0.997;0.984	P;D;D;D;D;D;D;D	0.76575	0.607;0.98;0.985;0.964;0.98;0.98;0.985;0.988	T	0.35919	-0.9769	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	113;113;113;113;113;113;113;113	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	A	113;113;113;113;113;113;113;113;113;113;87	ENSP00000399511:V113A;ENSP00000358332:V113A;ENSP00000443278:V113A;ENSP00000345352:V113A;ENSP00000284483:V113A;ENSP00000418156:V113A;ENSP00000349880:V113A;ENSP00000418916:V113A;ENSP00000418378:V113A;ENSP00000419990:V113A;ENSP00000417338:V87A	ENSP00000284483:V113A	V	-	2	0	TNIK	172395087	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.307000	0.96226	2.326000	0.78906	0.533000	0.62120	GTC		0.453	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
PIK3CA	5290	broad.mit.edu	37	3	178947900	178947900	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:178947900C>T	ENST00000263967.3	+	19	2932	c.2775C>T	c.(2773-2775)gaC>gaT	p.D925D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	925	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.D925D(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGGTGAAAGACGATGGACAAG	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.D925D	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2775T	3						.						159.0	146.0	150.0					3																	178947900		1888	4116	6004	180430594	SO:0001819	synonymous_variant	5290	exon19				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2775C>T	3.37:g.178947900C>T			180430594	NM_006218	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MCF2L2	23101	broad.mit.edu	37	3	182947467	182947467	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:182947467C>T	ENST00000328913.3	-	17	2329	c.2032G>A	c.(2032-2034)Gaa>Aaa	p.E678K	MCF2L2_ENST00000447025.2_Missense_Mutation_p.E678K|MCF2L2_ENST00000473233.1_Missense_Mutation_p.E678K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	678	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E678K(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)			TTGTGAAATTCGTAAAGTTCT	0.328																																					p.E678K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2032A	3						.						91.0	97.0	95.0					3																	182947467		2203	4300	6503	184430161	SO:0001583	missense	23101	exon17			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.2032G>A	3.37:g.182947467C>T	ENSP00000328118:p.Glu678Lys		184430161	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643942	0.67244	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	T;T;T	0.62788	0.0;0.0;0.0	5.06	5.06	0.68205	Dbl homology (DH) domain (5);	0.136757	0.48767	D	0.000177	T	0.69169	0.3081	L	0.41356	1.27	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.63703	0.917;0.913	T	0.70528	-0.4847	10	0.52906	T	0.07	.	13.9585	0.64164	0.0:1.0:0.0:0.0	.	678;678	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	K	678	ENSP00000328118:E678K;ENSP00000420070:E678K;ENSP00000388190:E678K	ENSP00000328118:E678K	E	-	1	0	MCF2L2	184430161	0.979000	0.34478	0.989000	0.46669	0.626000	0.37791	2.595000	0.46197	2.350000	0.79820	0.655000	0.94253	GAA		0.328	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
ECE2	9718	broad.mit.edu	37	3	184008048	184008048	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:184008048A>C	ENST00000402825.3	+	14	1911	c.1911A>C	c.(1909-1911)gaA>gaC	p.E637D	ECE2_ENST00000357474.5_Missense_Mutation_p.E565D|ECE2_ENST00000404464.3_Missense_Mutation_p.E519D|ECE2_ENST00000359140.4_Missense_Mutation_p.E490D|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	637	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.E637D(1)|p.E490D(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)			CACAGTACGAAATTTCTGAAG	0.448																																					p.E637D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1911C	3						.						52.0	49.0	50.0					3																	184008048		2203	4300	6503	185490742	SO:0001583	missense	9718	exon14			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.1911A>C	3.37:g.184008048A>C	ENSP00000384223:p.Glu637Asp		185490742	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	A	3.214	-0.160921	0.06502	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61	5.04	2.59	0.31030	.	0.114059	0.64402	N	0.000020	T	0.72676	0.3490	L	0.55990	1.75	0.50039	D	0.999841	B;B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B	0.10450	0.002;0.003;0.001;0.003;0.002;0.005;0.001	T	0.60652	-0.7221	10	0.30854	T	0.27	-5.74	1.0888	0.01659	0.5216:0.1659:0.1531:0.1595	.	239;490;508;519;565;490;637	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	D	637;490;519;565;511	ENSP00000384223:E637D;ENSP00000352052:E490D;ENSP00000385846:E519D;ENSP00000350066:E565D;ENSP00000398444:E511D	ENSP00000350066:E565D	E	+	3	2	ECE2	185490742	0.999000	0.42202	0.997000	0.53966	0.207000	0.24258	0.593000	0.23999	0.250000	0.21479	0.368000	0.22195	GAA		0.448	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
TBCCD1	55171	broad.mit.edu	37	3	186276256	186276256	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:186276256T>G	ENST00000424280.1	-	3	921	c.442A>C	c.(442-444)Aac>Cac	p.N148H	TBCCD1_ENST00000446782.1_Missense_Mutation_p.N52H|TBCCD1_ENST00000338733.5_Missense_Mutation_p.N148H	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	148					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.N148H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TGAGATTTGTTTCTGGGACTG	0.413																																					p.N148H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A442C	3						.						140.0	139.0	140.0					3																	186276256		2203	4300	6503	187758950	SO:0001583	missense	55171	exon3			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.442A>C	3.37:g.186276256T>G	ENSP00000411253:p.Asn148His		187758950	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	T	8.304	0.820531	0.16678	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782;ENST00000413695;ENST00000430560	T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;0.86	5.24	2.77	0.32553	.	1.204470	0.05503	N	0.558802	T	0.53899	0.1825	N	0.16478	0.41	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37197	-0.9716	10	0.27082	T	0.32	-0.9741	6.0677	0.19871	0.0:0.0843:0.348:0.5677	.	52;148	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	H	148;148;52;148;132	ENSP00000411253:N148H;ENSP00000341652:N148H;ENSP00000397091:N52H;ENSP00000391109:N148H;ENSP00000407506:N132H	ENSP00000341652:N148H	N	-	1	0	TBCCD1	187758950	0.807000	0.29009	0.676000	0.29932	0.365000	0.29674	0.567000	0.23608	0.356000	0.24157	0.533000	0.62120	AAC		0.413	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
ATP13A5	344905	broad.mit.edu	37	3	193080376	193080376	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:193080376C>A	ENST00000342358.4	-	4	552	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	145						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.E145D(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)		GAAACCGCTTCTCCAGGTCGT	0.438																																					p.E145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	3						.						168.0	161.0	163.0					3																	193080376		2203	4300	6503	194563070	SO:0001583	missense	344905	exon4			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.435G>T	3.37:g.193080376C>A	ENSP00000341942:p.Glu145Asp		194563070	NM_198505	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737853	0.49045	.	.	ENSG00000187527	ENST00000342358	T	0.35236	1.32	5.42	4.54	0.55810	.	0.263376	0.32868	N	0.005544	T	0.41236	0.1150	M	0.74546	2.27	0.29213	N	0.874465	P	0.34892	0.474	B	0.38500	0.275	T	0.39663	-0.9603	10	0.30078	T	0.28	-8.6501	12.0311	0.53397	0.0:0.9158:0.0:0.0842	.	145	Q4VNC0	AT135_HUMAN	D	145	ENSP00000341942:E145D	ENSP00000341942:E145D	E	-	3	2	ATP13A5	194563070	0.982000	0.34865	1.000000	0.80357	0.893000	0.52053	0.687000	0.25407	1.424000	0.47217	0.655000	0.94253	GAG		0.438	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
ATP13A4	84239	broad.mit.edu	37	3	193159367	193159367	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:193159367A>G	ENST00000342695.4	-	20	2649	c.2327T>C	c.(2326-2328)aTt>aCt	p.I776T	ATP13A4_ENST00000392443.3_Missense_Mutation_p.I757T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	776						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I776T(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)		CCTGATGTTAATGTAATTGTC	0.368																																					p.I776T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2327C	3						.						134.0	119.0	124.0					3																	193159367		2203	4300	6503	194642061	SO:0001583	missense	84239	exon20			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.2327T>C	3.37:g.193159367A>G	ENSP00000339182:p.Ile776Thr		194642061	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920203	0.33908	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.85861	-1.76;-2.04	5.85	5.85	0.93711	HAD-like domain (1);	0.076942	0.53938	D	0.000056	T	0.81654	0.4868	L	0.51853	1.615	0.80722	D	1	B;B;B	0.30211	0.273;0.002;0.143	B;B;B	0.37198	0.243;0.025;0.243	T	0.75703	-0.3225	10	0.12103	T	0.63	-30.5818	11.7077	0.51607	0.8525:0.1475:0.0:0.0	.	757;776;776	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	T	757;776	ENSP00000376238:I757T;ENSP00000339182:I776T	ENSP00000339182:I776T	I	-	2	0	ATP13A4	194642061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.303000	0.65738	2.222000	0.72286	0.533000	0.62120	ATT		0.368	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
OPA1	4976	broad.mit.edu	37	3	193374898	193374898	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:193374898T>G	ENST00000392438.3	+	21	2277	c.2043T>G	c.(2041-2043)ttT>ttG	p.F681L	OPA1_ENST00000361715.2_Missense_Mutation_p.F700L|OPA1_ENST00000361150.2_Missense_Mutation_p.F682L|OPA1_ENST00000361510.2_Missense_Mutation_p.F736L|OPA1_ENST00000361828.2_Missense_Mutation_p.F699L|OPA1_ENST00000361908.3_Missense_Mutation_p.F718L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	681					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.F736L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAGAAGAATTTTCCCGCTTTA	0.333																																					p.F663L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1989G	3						.						72.0	77.0	75.0					3																	193374898		2203	4300	6503	194857592	SO:0001583	missense	4976	exon21			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2043T>G	3.37:g.193374898T>G	ENSP00000376233:p.Phe681Leu		194857592	NM_130832	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445482	0.63178	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-3.72;-3.72;-3.64;-3.65;-3.75;-4.1	5.78	4.64	0.57946	.	0.044369	0.85682	D	0.000000	D	0.96691	0.8920	M	0.65975	2.015	0.80722	D	1	P;D;P;P;B;D;D;D	0.69078	0.937;0.997;0.937;0.937;0.412;0.977;0.982;0.988	P;D;P;P;B;P;D;P	0.70716	0.62;0.97;0.62;0.751;0.134;0.751;0.952;0.751	D	0.94574	0.7773	10	0.20519	T	0.43	-21.2669	7.8724	0.29573	0.0:0.1529:0.0:0.8471	.	645;681;663;682;699;718;700;736	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	L	718;681;736;700;699;682	ENSP00000354681:F718L;ENSP00000376233:F681L;ENSP00000355324:F736L;ENSP00000355311:F700L;ENSP00000354429:F699L;ENSP00000354781:F682L	ENSP00000354781:F682L	F	+	3	2	OPA1	194857592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.863000	0.48396	2.197000	0.70478	0.533000	0.62120	TTT		0.333	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
GP5	2814	broad.mit.edu	37	3	194118502	194118502	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:194118502C>T	ENST00000401815.1	-	1	581	c.510G>A	c.(508-510)gaG>gaA	p.E170E	GP5_ENST00000323007.3_Silent_p.E170E			P40197	GPV_HUMAN	glycoprotein V (platelet)	170					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.E170E(2)		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)		ACTTCAGGTTCTCCAGATTCG	0.502																																					p.E170E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G510A	3						.						71.0	74.0	73.0					3																	194118502		2203	4300	6503	195599791	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.510G>A	3.37:g.194118502C>T			195599791	NM_004488	D1MER9	Silent	SNP	ENST00000401815.1	37	CCDS3307.1																																																																																				0.502	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488	
CHL1	10752	broad.mit.edu	37	3	431154	431154	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:431154G>T	ENST00000256509.2	+	20	3109	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	CHL1_ENST00000397491.2_Missense_Mutation_p.D807Y	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.D823Y(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)		TTCTGGAGAAGACTGTAAGTG	0.428																																					p.D823Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2467T	3						.						73.0	65.0	68.0					3																	431154		2203	4300	6503	406154	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.2467G>T	3.37:g.431154G>T	ENSP00000256509:p.Asp823Tyr		406154	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259613|4.259613	0.80246|0.80246	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.57107|.	0.42;0.42|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85961|0.85961	0.5819|0.5819	M|M	0.91038|0.91038	3.17|3.17	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.993;0.997;1.0|.	D|D	0.88703|0.88703	0.3217|0.3217	10|5	0.87932|.	D|.	0|.	.|.	19.1737|19.1737	0.93594|0.93594	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	807;807;823|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	Y|N	823;807|9	ENSP00000256509:D823Y;ENSP00000380628:D807Y|.	ENSP00000256509:D823Y|.	D|K	+|+	1|3	0|2	CHL1|CHL1	406154|406154	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.112000|9.112000	0.94314|0.94314	2.524000|2.524000	0.85096|0.85096	0.591000|0.591000	0.81541|0.81541	GAC|AAG		0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
IL5RA	3568	broad.mit.edu	37	3	3118234	3118234	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:3118234G>T	ENST00000446632.2	-	10	1646	c.1072C>A	c.(1072-1074)Ctc>Atc	p.L358I	IL5RA_ENST00000445864.2_Missense_Mutation_p.L149I|IL5RA_ENST00000418488.2_Missense_Mutation_p.L263I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L358I|IL5RA_ENST00000438560.1_Missense_Mutation_p.L358I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	358					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L358I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATAAGCGAGAGAATTAACAAG	0.408																																					p.L358I	GBM(169;430 2801 24955 28528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072A	3						.						113.0	95.0	101.0					3																	3118234		2203	4300	6503	3093234	SO:0001583	missense	3568	exon11			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.1072C>A	3.37:g.3118234G>T	ENSP00000412209:p.Leu358Ile		3093234	NM_000564	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579175	0.13686	.	.	ENSG00000091181	ENST00000446632;ENST00000353055;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864	D;D;D;T;T	0.95980	-3.87;-3.87;-3.87;1.27;1.52	4.83	-0.332	0.12675	.	0.852591	0.10341	N	0.686278	D	0.89357	0.6692	L	0.33245	0.995	0.09310	N	1	B;B;B;B;B	0.28933	0.139;0.031;0.218;0.139;0.228	B;B;B;B;B	0.28011	0.027;0.006;0.085;0.039;0.051	T	0.79032	-0.1969	10	0.28530	T	0.3	-3.2155	3.9956	0.09556	0.4656:0.1919:0.3425:0.0	.	358;358;149;263;59	B4E2G0;Q01344;B3IU77;E7ERY4;Q14632	.;IL5RA_HUMAN;.;.;.	I	358;69;358;358;263;149	ENSP00000412209:L358I;ENSP00000390753:L358I;ENSP00000256452:L358I;ENSP00000388858:L263I;ENSP00000402598:L149I	ENSP00000256452:L358I	L	-	1	0	IL5RA	3093234	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.809000	0.04510	-0.003000	0.14444	-1.224000	0.01588	CTC		0.408	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
LRRN1	57633	broad.mit.edu	37	3	3887326	3887326	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:3887326G>A	ENST00000319331.3	+	2	1762	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	334						integral component of membrane (GO:0016021)		p.R334Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTGGCTTTCCGAAGTGTCCCT	0.488																																					p.R334Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1001A	3						.						60.0	57.0	58.0					3																	3887326		2203	4300	6503	3862326	SO:0001583	missense	57633	exon2			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1001G>A	3.37:g.3887326G>A	ENSP00000314901:p.Arg334Gln		3862326	NM_020873	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030586	0.54790	.	.	ENSG00000175928	ENST00000319331	T	0.56103	0.48	5.59	5.59	0.84812	.	0.054378	0.64402	D	0.000003	T	0.39860	0.1094	L	0.38649	1.16	0.50813	D	0.999894	P	0.37176	0.586	B	0.18561	0.022	T	0.27468	-1.0073	10	0.23302	T	0.38	.	19.5917	0.95518	0.0:0.0:1.0:0.0	.	334	Q6UXK5	LRRN1_HUMAN	Q	334	ENSP00000314901:R334Q	ENSP00000314901:R334Q	R	+	2	0	LRRN1	3862326	1.000000	0.71417	0.659000	0.29680	0.995000	0.86356	5.716000	0.68437	2.614000	0.88457	0.650000	0.86243	CGA		0.488	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873	
ITPR1	3708	broad.mit.edu	37	3	4722294	4722294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:4722294C>T	ENST00000443694.2	+	22	2980	c.2980C>T	c.(2980-2982)Cga>Tga	p.R994*	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R1000*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R1000*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R1009*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R994*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R985*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1009					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.R985*(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)	TATATTTAAGCGAGAGTTTGA	0.398																																					p.R1000X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2998T	3						.						110.0	107.0	108.0					3																	4722294		1874	4092	5966	4697294	SO:0001587	stop_gained	3708	exon25			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.2980C>T	3.37:g.4722294C>T	ENSP00000401671:p.Arg994*		4697294	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.817682	0.98964	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.62	3.74	0.42951	.	0.449318	0.22299	N	0.061883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	12.1324	0.53950	0.3112:0.6888:0.0:0.0	.	.	.	.	X	1009;994;1009;1000;1000;985;994	.	ENSP00000306253:R994X	R	+	1	2	ITPR1	4697294	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.841000	0.27613	1.141000	0.42275	0.491000	0.48974	CGA		0.398	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4732962	4732962	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:4732962C>A	ENST00000443694.2	+	29	3918	c.3918C>A	c.(3916-3918)ttC>ttA	p.F1306L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.F1312L|ITPR1_ENST00000357086.4_Missense_Mutation_p.F1312L|ITPR1_ENST00000354582.6_Missense_Mutation_p.F1321L|ITPR1_ENST00000302640.8_Missense_Mutation_p.F1306L|ITPR1_ENST00000456211.2_Missense_Mutation_p.F1297L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1321					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.F1297L(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)	ATATAAAGTTCTTACAGACAA	0.398																																					p.F1312L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3936A	3						.						74.0	74.0	74.0					3																	4732962		1867	4121	5988	4707962	SO:0001583	missense	3708	exon32			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.3918C>A	3.37:g.4732962C>A	ENSP00000401671:p.Phe1306Leu		4707962	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292492	0.59976	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.24	3.44	0.39384	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.61218	1.895	0.80722	D	1	B;D	0.89917	0.372;1.0	B;D	0.91635	0.302;0.999	T	0.67405	-0.5679	10	0.33141	T	0.24	.	8.3322	0.32193	0.0:0.7581:0.0:0.2419	.	1321;1312	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1321;1306;1321;1312;1312;1297;1306	ENSP00000306253:F1306L;ENSP00000346595:F1321L;ENSP00000405934:F1312L;ENSP00000349597:F1312L;ENSP00000397885:F1297L;ENSP00000401671:F1306L	ENSP00000306253:F1306L	F	+	3	2	ITPR1	4707962	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	2.671000	0.46842	0.578000	0.29487	0.655000	0.94253	TTC		0.398	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
EFHB	151651	broad.mit.edu	37	3	19924151	19924151	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:19924151C>A	ENST00000295824.9	-	12	2380	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	EFHB_ENST00000344838.4_Missense_Mutation_p.R610I	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	740							calcium ion binding (GO:0005509)	p.R740I(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATAATTAGTTCTGTCACTGAT	0.433																																					p.R740I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2219T	3						.						94.0	78.0	84.0					3																	19924151		2203	4300	6503	19899155	SO:0001583	missense	151651	exon12			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.2219G>T	3.37:g.19924151C>A	ENSP00000295824:p.Arg740Ile		19899155	NM_144715	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623486	0.46840	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.24723	1.84;1.85	5.55	3.7	0.42460	.	0.270585	0.35124	N	0.003425	T	0.20780	0.0500	L	0.56769	1.78	0.45439	D	0.99841	P;B	0.45078	0.85;0.346	B;B	0.40285	0.325;0.052	T	0.06058	-1.0848	9	.	.	.	-11.2614	2.3557	0.04295	0.1411:0.5176:0.1291:0.2121	.	610;740	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	I	740;610	ENSP00000295824:R740I;ENSP00000342263:R610I	.	R	-	2	0	EFHB	19899155	0.828000	0.29307	0.930000	0.37139	0.780000	0.44128	0.163000	0.16520	0.763000	0.33175	0.655000	0.94253	AGA		0.433	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	
ZNF385D	79750	broad.mit.edu	37	3	21465509	21465509	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:21465509C>T	ENST00000281523.2	-	7	1418	c.900G>A	c.(898-900)ccG>ccA	p.P300P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	300						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P300P(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTAGGTTTCGGGGGCTTCC	0.408																																					p.P300P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G900A	3						.						173.0	171.0	171.0					3																	21465509		2203	4300	6503	21440513	SO:0001819	synonymous_variant	79750	exon7			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.900G>A	3.37:g.21465509C>T			21440513	NM_024697		Silent	SNP	ENST00000281523.2	37	CCDS2636.1																																																																																				0.408	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
ZNF385D	79750	broad.mit.edu	37	3	21606079	21606079	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:21606079C>A	ENST00000281523.2	-	3	781	c.263G>T	c.(262-264)aGa>aTa	p.R88I	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	88						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R88I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAATTAAATCTCAACTGGCA	0.343																																					p.R88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	3						.						131.0	130.0	130.0					3																	21606079		2203	4300	6503	21581083	SO:0001583	missense	79750	exon3			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.263G>T	3.37:g.21606079C>A	ENSP00000281523:p.Arg88Ile		21581083	NM_024697		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479053	0.63849	.	.	ENSG00000151789	ENST00000281523	T	0.22743	1.94	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.045544	0.85682	D	0.000000	T	0.39172	0.1068	M	0.71581	2.175	0.58432	D	0.999996	D	0.56746	0.977	P	0.56612	0.802	T	0.10291	-1.0636	10	0.54805	T	0.06	-0.2164	13.1477	0.59472	0.0:0.9271:0.0:0.0728	.	88	Q9H6B1	Z385D_HUMAN	I	88	ENSP00000281523:R88I	ENSP00000281523:R88I	R	-	2	0	ZNF385D	21581083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.716000	0.92895	0.561000	0.74099	AGA		0.343	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
NR1D2	9975	broad.mit.edu	37	3	24009435	24009435	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:24009435A>C	ENST00000312521.4	+	7	1783	c.1464A>C	c.(1462-1464)gaA>gaC	p.E488D	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	488	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E488D(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CTATGTTTGAATTTAGTGAGA	0.398																																					p.E488D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1464C	3						.						161.0	153.0	156.0					3																	24009435		2203	4300	6503	23984439	SO:0001583	missense	9975	exon7			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.1464A>C	3.37:g.24009435A>C	ENSP00000310006:p.Glu488Asp		23984439	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	A	4.430	0.079510	0.08533	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96522	-4.04	5.94	1.03	0.20045	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.238676	0.48767	N	0.000163	D	0.88855	0.6550	N	0.13198	0.31	0.52501	D	0.99995	B	0.14805	0.011	B	0.16722	0.016	T	0.76838	-0.2811	10	0.10111	T	0.7	.	9.6072	0.39641	0.6206:0.0:0.3794:0.0	.	488	Q14995	NR1D2_HUMAN	D	488	ENSP00000310006:E488D	ENSP00000310006:E488D	E	+	3	2	NR1D2	23984439	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	1.203000	0.32284	-0.050000	0.13356	-0.250000	0.11733	GAA		0.398	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
RARB	5915	broad.mit.edu	37	3	25502692	25502692	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:25502692A>G	ENST00000404969.1	+	2	187	c.187A>G	c.(187-189)Aca>Gca	p.T63A	RARB_ENST00000458646.1_5'UTR|RARB_ENST00000330688.4_Missense_Mutation_p.T56A|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	63	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T63A(1)|p.T56A(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)	AGCAATTGAAACACAGAGCAC	0.453																																					p.T56A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A166G	3						.						84.0	91.0	88.0					3																	25502692		2203	4300	6503	25477696	SO:0001583	missense	5915	exon2			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.187A>G	3.37:g.25502692A>G	ENSP00000385865:p.Thr63Ala		25477696	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	A	15.86	2.957808	0.53400	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92348	-2.8;-3.02;-3.01	5.71	5.71	0.89125	.	0.369764	0.29355	N	0.012390	D	0.93223	0.7841	L	0.43923	1.385	0.80722	D	1	P;B	0.46706	0.883;0.005	P;B	0.56278	0.795;0.012	D	0.93367	0.6732	10	0.52906	T	0.07	.	16.0288	0.80560	1.0:0.0:0.0:0.0	.	63;56	P10826;F1D8S6	RARB_HUMAN;.	A	63;63;63;56	ENSP00000373282:T63A;ENSP00000385865:T63A;ENSP00000332296:T56A	ENSP00000332296:T56A	T	+	1	0	RARB	25477696	1.000000	0.71417	0.993000	0.49108	0.522000	0.34438	9.339000	0.96797	2.199000	0.70637	0.524000	0.50904	ACA		0.453	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
RARB	5915	broad.mit.edu	37	3	25611288	25611288	+	Missense_Mutation	SNP	C	C	T	rs372148180		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:25611288C>T	ENST00000404969.1	+	4	509	c.509C>T	c.(508-510)tCg>tTg	p.S170L	RARB_ENST00000458646.1_Missense_Mutation_p.S51L|RARB_ENST00000330688.4_Missense_Mutation_p.S163L|RARB_ENST00000437042.2_Missense_Mutation_p.S51L|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	170	Hinge.				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.S163L(1)|p.S170L(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)	AAGGAGACTTCGAAGCAAGAA	0.502																																					p.S163L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C488T	3						.	C	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	114.0	111.0	112.0		488,152	4.6	1.0	3		112	0,8600		0,0,4300	no	missense,missense	RARB	NM_000965.3,NM_016152.3	145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	163/449,51/337	25611288	2,13004	2203	4300	6503	25586292	SO:0001583	missense	5915	exon4			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.509C>T	3.37:g.25611288C>T	ENSP00000385865:p.Ser170Leu		25586292	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	C	12.43	1.936212	0.34189	4.54E-4	0.0	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.57	4.57	0.56435	Nuclear hormone receptor, ligand-binding (2);	0.520692	0.21026	N	0.081434	T	0.19565	0.0470	N	0.08118	0	0.36590	D	0.87405	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.12578	-1.0542	10	0.28530	T	0.3	.	12.3826	0.55315	0.0:0.9179:0.0:0.0821	.	170;163	P10826;F1D8S6	RARB_HUMAN;.	L	170;170;170;51;163;51	ENSP00000373282:S170L;ENSP00000385865:S170L;ENSP00000398840:S51L;ENSP00000332296:S163L;ENSP00000391391:S51L	ENSP00000332296:S163L	S	+	2	0	RARB	25586292	0.927000	0.31430	0.996000	0.52242	0.988000	0.76386	3.052000	0.49893	2.530000	0.85305	0.561000	0.74099	TCG		0.502	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
OXSM	54995	broad.mit.edu	37	3	25832704	25832704	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:25832704C>T	ENST00000280701.3	+	2	292	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	OXSM_ENST00000420173.2_Missense_Mutation_p.R65C|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	65					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.R65C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTTTGGGATCGTCTTATCGG	0.463																																					p.R65C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193T	3						.						170.0	156.0	160.0					3																	25832704		2203	4300	6503	25807708	SO:0001583	missense	54995	exon2			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.193C>T	3.37:g.25832704C>T	ENSP00000280701:p.Arg65Cys		25807708	NM_017897		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584185	0.46110	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.14	4.25	0.50352	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.049932	0.85682	D	0.000000	T	0.80116	0.4564	M	0.88105	2.93	0.80722	D	1	B;D	0.76494	0.313;0.999	B;D	0.70716	0.042;0.97	T	0.83194	-0.0082	9	0.72032	D	0.01	-6.9519	11.391	0.49815	0.1418:0.7216:0.1366:0.0	.	65;65	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	C	65	.	ENSP00000280701:R65C	R	+	1	0	OXSM	25807708	1.000000	0.71417	0.934000	0.37439	0.325000	0.28411	3.822000	0.55708	1.352000	0.45808	0.561000	0.74099	CGT		0.463	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
SLC4A7	9497	broad.mit.edu	37	3	27498146	27498146	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:27498146A>C	ENST00000295736.5	-	1	99	c.29T>G	c.(28-30)tTa>tGa	p.L10*	SLC4A7_ENST00000445684.1_Intron|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.L10*|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000454389.1_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000440156.1_Intron|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000446700.1_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	10					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.L10*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACATACAGGTAACTTCTTCTC	0.353																																					p.L10X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T29G	3						.						133.0	132.0	132.0					3																	27498146		2202	4300	6502	27473150	SO:0001587	stop_gained	9497	exon1			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.29T>G	3.37:g.27498146A>C	ENSP00000295736:p.Leu10*		27473150	NM_003615	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Nonsense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	35	5.498060	0.96355	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000428179	.	.	.	5.11	0.94	0.19513	.	2.131160	0.02111	N	0.054791	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3623	0.04310	0.604:0.1539:0.093:0.1491	.	.	.	.	X	10	.	ENSP00000295736:L10X	L	-	2	0	SLC4A7	27473150	0.348000	0.24861	0.955000	0.39395	0.997000	0.91878	1.275000	0.33144	0.327000	0.23409	0.482000	0.46254	TTA		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
STT3B	201595	broad.mit.edu	37	3	31621349	31621349	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:31621349A>C	ENST00000295770.2	+	3	681	c.472A>C	c.(472-474)Aat>Cat	p.N158H	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	158					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.N158H(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGATTTTAAATACATTGAA	0.343																																					p.N158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A472C	3						.						90.0	87.0	88.0					3																	31621349		2203	4300	6503	31596353	SO:0001583	missense	201595	exon3			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.472A>C	3.37:g.31621349A>C	ENSP00000295770:p.Asn158His		31596353	NM_178862	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244508	0.22796	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	N	0.04245	-0.25	0.80722	D	1	B	0.12013	0.005	B	0.21360	0.034	T	0.31336	-0.9947	9	0.07813	T	0.8	-17.8789	16.3945	0.83586	1.0:0.0:0.0:0.0	.	158	Q8TCJ2	STT3B_HUMAN	H	158	.	ENSP00000295770:N158H	N	+	1	0	STT3B	31596353	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.339000	0.96797	2.265000	0.75225	0.482000	0.46254	AAT		0.343	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
CCR4	1233	broad.mit.edu	37	3	32995914	32995914	+	Missense_Mutation	SNP	C	C	A	rs371348585		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:32995914C>A	ENST00000330953.5	+	2	1168	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	334					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.L334I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATACTGTGGGCTCCTCCAAAT	0.463																																					p.L334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000A	3						.						52.0	53.0	53.0					3																	32995914		2201	4300	6501	32970918	SO:0001583	missense	1233	exon2			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.1000C>A	3.37:g.32995914C>A	ENSP00000332659:p.Leu334Ile		32970918	NM_005508	Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.663038	0.00107	.	.	ENSG00000183813	ENST00000330953	T	0.66995	-0.24	5.43	-7.01	0.01594	.	1.382940	0.05222	N	0.508774	T	0.40145	0.1105	N	0.26042	0.785	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41592	-0.9500	10	0.05833	T	0.94	.	2.3773	0.04345	0.2288:0.3119:0.0753:0.384	.	334	P51679	CCR4_HUMAN	I	334	ENSP00000332659:L334I	ENSP00000332659:L334I	L	+	1	0	CCR4	32970918	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.678000	0.01942	-2.069000	0.00882	-1.119000	0.02030	CTC		0.463	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2		
ARPP21	10777	broad.mit.edu	37	3	35730866	35730866	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:35730866G>T	ENST00000187397.4	+	7	930	c.474G>T	c.(472-474)aaG>aaT	p.K158N	ARPP21_ENST00000444190.1_Missense_Mutation_p.K158N|ARPP21_ENST00000337271.5_Missense_Mutation_p.K158N|ARPP21_ENST00000417925.1_Missense_Mutation_p.K158N|ARPP21_ENST00000458225.1_Missense_Mutation_p.K158N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	158					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.K158N(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						ACACATTAAAGAATAATTCCA	0.338																																					p.K158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G474T	3						.						60.0	62.0	61.0					3																	35730866		2203	4298	6501	35705870	SO:0001583	missense	10777	exon7			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.474G>T	3.37:g.35730866G>T	ENSP00000187397:p.Lys158Asn		35705870	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378335	0.82682	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.86	5.86	0.93980	Single-stranded nucleic acid binding R3H (1);	0.094495	0.64402	D	0.000001	T	0.56108	0.1963	M	0.64997	1.995	0.45541	D	0.998497	B;B;B	0.26845	0.161;0.024;0.161	B;B;B	0.38056	0.264;0.135;0.264	T	0.48433	-0.9036	10	0.33141	T	0.24	-24.5717	20.5632	0.99335	0.0:0.0:1.0:0.0	.	158;158;158	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	N	158	ENSP00000414351:K158N;ENSP00000337792:K158N;ENSP00000405276:K158N;ENSP00000187397:K158N;ENSP00000412326:K158N	ENSP00000187397:K158N	K	+	3	2	ARPP21	35705870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.043000	0.57354	2.937000	0.99478	0.650000	0.86243	AAG		0.338	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
ARPP21	10777	broad.mit.edu	37	3	35780946	35780946	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:35780946C>T	ENST00000187397.4	+	17	2238	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	ARPP21_ENST00000444190.1_Silent_p.I575I|ARPP21_ENST00000337271.5_Silent_p.I575I|ARPP21_ENST00000417925.1_Silent_p.I595I|ARPP21_ENST00000458225.1_Silent_p.I595I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	594	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.I594I(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						GCTATGTAATCGCCTCTACAG	0.627																																					p.I594I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1782T	3						.						58.0	59.0	58.0					3																	35780946		2203	4300	6503	35755950	SO:0001819	synonymous_variant	10777	exon17			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.1782C>T	3.37:g.35780946C>T			35755950	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	CCDS2661.1																																																																																				0.627	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
LRRFIP2	9209	broad.mit.edu	37	3	37132966	37132966	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:37132966C>A	ENST00000336686.4	-	18	1179	c.1099G>T	c.(1099-1101)Gaa>Taa	p.E367*	Y_RNA_ENST00000383918.1_RNA|LRRFIP2_ENST00000421307.1_Nonsense_Mutation_p.E367*|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Nonsense_Mutation_p.E135*|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Nonsense_Mutation_p.E135*			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	367	DVL3-binding.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.E367*(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACCTTTAGTTCTTTAAGCCCC	0.448																																					p.E135X												.	.	2	Substitution - Nonsense(1)|Whole gene deletion(1)	ovary(1)|large_intestine(1)	c.G403T	3						.						212.0	180.0	191.0					3																	37132966		2203	4300	6503	37107970	SO:0001587	stop_gained	9209	exon7			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1099G>T	3.37:g.37132966C>A	ENSP00000338727:p.Glu367*		37107970	NM_001134369	A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Nonsense_Mutation	SNP	ENST00000336686.4	37	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	C	39	7.852254	0.98525	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000421276;ENST00000440230;ENST00000416425	.	.	.	5.94	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.0523	15.0966	0.72238	0.0:0.9324:0.0:0.0676	.	.	.	.	X	367;367;135;135;135	.	ENSP00000338727:E367X	E	-	1	0	LRRFIP2	37107970	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.464000	0.80887	1.527000	0.49086	0.563000	0.77884	GAA		0.448	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	
EXOG	9941	broad.mit.edu	37	3	38565470	38565470	+	Missense_Mutation	SNP	G	G	A	rs368056983		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:38565470G>A	ENST00000287675.5	+	6	820	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Missense_Mutation_p.E192K	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	242					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E242K(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						AGTATCTACCGAACCACTGGC	0.517																																					p.E192K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G574A	3						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	68.0	71.0	70.0		574,724	5.5	0.5	3		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EXOG	NM_001145464.1,NM_005107.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	192/319,242/369	38565470	1,13005	2203	4300	6503	38540474	SO:0001583	missense	9941	exon5			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.724G>A	3.37:g.38565470G>A	ENSP00000287675:p.Glu242Lys		38540474	NM_001145464	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110575	0.56398	0.0	1.16E-4	ENSG00000157036	ENST00000287675;ENST00000422077	T;T	0.43688	0.94;0.95	5.54	5.54	0.83059	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.125559	0.52532	D	0.000067	T	0.25457	0.0619	N	0.17838	0.53	0.80722	D	1	P;P	0.45634	0.698;0.863	B;B	0.36335	0.065;0.222	T	0.04650	-1.0936	10	0.15952	T	0.53	-27.0099	15.1902	0.73038	0.0:0.1402:0.8598:0.0	.	192;242	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	K	242;192	ENSP00000287675:E242K;ENSP00000404305:E192K	ENSP00000287675:E242K	E	+	1	0	EXOG	38540474	1.000000	0.71417	0.492000	0.27490	0.916000	0.54674	5.454000	0.66651	2.884000	0.98904	0.655000	0.94253	GAA		0.517	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	
SCN5A	6331	broad.mit.edu	37	3	38645270	38645270	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:38645270T>C	ENST00000333535.4	-	12	1972	c.1823A>G	c.(1822-1824)gAc>gGc	p.D608G	SCN5A_ENST00000449557.2_Missense_Mutation_p.D608G|SCN5A_ENST00000413689.1_Missense_Mutation_p.D608G|SCN5A_ENST00000414099.2_Missense_Mutation_p.D608G|SCN5A_ENST00000443581.1_Missense_Mutation_p.D608G|SCN5A_ENST00000425664.1_Missense_Mutation_p.D608G|SCN5A_ENST00000450102.2_Missense_Mutation_p.D608G|SCN5A_ENST00000451551.2_Missense_Mutation_p.D608G|SCN5A_ENST00000423572.2_Missense_Mutation_p.D608G|SCN5A_ENST00000455624.2_Missense_Mutation_p.D608G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	608				D -> N (in Ref. 6; ABR15763/ABR15764). {ECO:0000305}.	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)			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)	GGCCTCTGGGTCGCCTGCCCC	0.647																																					p.D608G												.	.	0			c.A1823G	3						.						51.0	55.0	54.0					3																	38645270		2041	4196	6237	38620274	SO:0001583	missense	6331	exon12			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.1823A>G	3.37:g.38645270T>C	ENSP00000328968:p.Asp608Gly		38620274	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	T	9.910	1.209228	0.22205	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	4.18	2.93	0.34026	Domain of unknown function DUF3451 (1);	0.759964	0.12278	N	0.483207	T	0.81559	0.4848	N	0.20685	0.6	0.19775	N	0.999955	B;P;B;B;B;B;B	0.34462	0.042;0.454;0.372;0.042;0.149;0.002;0.122	B;B;B;B;B;B;B	0.34931	0.067;0.192;0.083;0.067;0.098;0.004;0.059	T	0.71794	-0.4485	10	0.38643	T	0.18	.	6.2809	0.21007	0.1546:0.0885:0.0:0.7568	.	608;608;608;608;608;608;608	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	G	608	ENSP00000398962:D608G;ENSP00000398266:D608G;ENSP00000410257:D608G;ENSP00000388797:D608G;ENSP00000397915:D608G;ENSP00000416634:D608G;ENSP00000328968:D608G;ENSP00000399524:D608G;ENSP00000403355:D608G;ENSP00000413996:D608G	ENSP00000328968:D608G	D	-	2	0	SCN5A	38620274	0.046000	0.20272	0.294000	0.24946	0.726000	0.41606	1.543000	0.36147	1.757000	0.51966	0.459000	0.35465	GAC		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN11A	11280	broad.mit.edu	37	3	38888876	38888876	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:38888876C>T	ENST00000302328.3	-	26	4883	c.4685G>A	c.(4684-4686)cGa>cAa	p.R1562Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1524Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1562Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1562					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.R1562Q(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)	TTCTTTTGATCGCAGCATGGG	0.453																																					p.R1562Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4685A	3						.						98.0	96.0	97.0					3																	38888876		2203	4300	6503	38863880	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.4685G>A	3.37:g.38888876C>T	ENSP00000307599:p.Arg1562Gln		38863880	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	c	13.16	2.154906	0.38021	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97430	-4.38;-4.38;-4.38	5.3	-2.15	0.07102	Ion transport (1);	2.067950	0.02264	N	0.067819	D	0.92802	0.7711	N	0.21282	0.65	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	D	0.85206	0.1018	10	0.62326	D	0.03	.	6.1028	0.20057	0.1412:0.4819:0.0:0.3769	.	1562	Q9UI33	SCNBA_HUMAN	Q	1562;1562;1524	ENSP00000307599:R1562Q;ENSP00000400945:R1562Q;ENSP00000416757:R1524Q	ENSP00000307599:R1562Q	R	-	2	0	SCN11A	38863880	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-0.551000	0.06027	-0.245000	0.09625	0.441000	0.28932	CGA		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
GORASP1	64689	broad.mit.edu	37	3	39139727	39139727	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:39139727T>G	ENST00000319283.3	-	9	2144	c.1323A>C	c.(1321-1323)taA>taC	p.*441Y	GORASP1_ENST00000476334.1_5'Flank|GORASP1_ENST00000422110.2_Nonstop_Mutation_p.*286Y|GORASP1_ENST00000479927.1_Nonstop_Mutation_p.*346Y	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	0					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.*441Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCCCAGGGTGTTATTCTGTGG	0.587																																					p.X441Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1323C	3						.						76.0	67.0	70.0					3																	39139727		2203	4300	6503	39114731	SO:0001578	stop_lost	64689	exon9			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.1323A>C	3.37:g.39139727T>G			39114731	NM_031899	B3KWC8|Q3SYG7|Q8N272|Q96H42	Read-through	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	T	8.592	0.884731	0.17540	.	.	ENSG00000114745	ENST00000319283;ENST00000422110;ENST00000479927	.	.	.	4.65	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9392	0.24483	0.0:0.1044:0.0:0.8956	.	.	.	.	Y	441;286;346	.	.	X	-	3	2	GORASP1	39114731	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.143000	0.16115	0.909000	0.36697	0.533000	0.62120	TAA		0.587	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1		
CSRNP1	64651	broad.mit.edu	37	3	39185747	39185747	+	Missense_Mutation	SNP	G	G	A	rs200194534		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:39185747G>A	ENST00000273153.5	-	4	838	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CSRNP1_ENST00000514182.1_Missense_Mutation_p.R221W	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	221					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	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.R221W(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TTCTCCTCCCGATCGATCCTT	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20689	0.001		0.0	False		,,,				2504	0.0				p.R221W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C661T	3						.						82.0	76.0	78.0					3																	39185747		2203	4300	6503	39160751	SO:0001583	missense	64651	exon4			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.661C>T	3.37:g.39185747G>A	ENSP00000273153:p.Arg221Trp		39160751	NM_033027	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.35	3.603914	0.66445	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.15372	2.43;2.43	5.14	5.14	0.70334	.	0.130824	0.50627	D	0.000111	T	0.38799	0.1054	M	0.68952	2.095	0.41250	D	0.986705	D	0.89917	1.0	D	0.87578	0.998	T	0.13308	-1.0514	10	0.66056	D	0.02	-24.1529	12.2316	0.54490	0.0:0.0:0.7138:0.2862	.	221	Q96S65	CSRN1_HUMAN	W	221	ENSP00000273153:R221W;ENSP00000422532:R221W	ENSP00000273153:R221W	R	-	1	2	CSRNP1	39160751	0.027000	0.19231	0.761000	0.31378	0.896000	0.52359	0.899000	0.28417	2.563000	0.86464	0.561000	0.74099	CGG		0.632	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027	
MYRIP	25924	broad.mit.edu	37	3	40231682	40231682	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:40231682G>A	ENST00000302541.6	+	10	1735	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.E465K|MYRIP_ENST00000425621.1_Missense_Mutation_p.E465K|MYRIP_ENST00000396217.3_Missense_Mutation_p.E376K|MYRIP_ENST00000539167.1_Missense_Mutation_p.E278K	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	465	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.E465K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CTCTTCCCGAGAAGTTGGGCA	0.617																																					p.E465K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1393A	3						.						59.0	63.0	62.0					3																	40231682		2203	4300	6503	40206686	SO:0001583	missense	25924	exon10			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1393G>A	3.37:g.40231682G>A	ENSP00000301972:p.Glu465Lys		40206686	NM_015460	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245025	0.59103	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.78	5.78	0.91487	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.342788	0.31199	N	0.008068	T	0.42720	0.1215	L	0.48642	1.525	0.42041	D	0.991079	D;P;P	0.58268	0.982;0.925;0.939	P;P;P	0.62560	0.904;0.54;0.67	T	0.04203	-1.0969	9	.	.	.	.	17.5052	0.87743	0.0:0.0:1.0:0.0	.	376;465;465	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	K	465;465;465;376;278	ENSP00000398665:E465K;ENSP00000301972:E465K;ENSP00000389323:E465K;ENSP00000379519:E376K;ENSP00000438297:E278K	.	E	+	1	0	MYRIP	40206686	1.000000	0.71417	0.994000	0.49952	0.314000	0.28054	2.752000	0.47516	2.745000	0.94114	0.655000	0.94253	GAA		0.617	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460	
ZNF620	253639	broad.mit.edu	37	3	40557900	40557900	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:40557900G>T	ENST00000314529.6	+	5	964	c.815G>T	c.(814-816)aGa>aTa	p.R272I	ZNF620_ENST00000418905.1_Missense_Mutation_p.R158I	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	272					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.R272I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGCATCAGAGAATCCACACT	0.453																																					p.R272I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G815T	3						.						62.0	65.0	64.0					3																	40557900		2203	4300	6503	40532904	SO:0001583	missense	253639	exon5			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.815G>T	3.37:g.40557900G>T	ENSP00000322265:p.Arg272Ile		40532904	NM_175888	Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344961	0.41498	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.24908	1.83;1.83	2.83	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35653	0.0939	L	0.47016	1.485	0.48087	D	0.999589	D	0.89917	1.0	D	0.75484	0.986	T	0.08493	-1.0719	8	.	.	.	.	4.9854	0.14187	0.2888:0.0:0.7112:0.0	.	272	Q6ZNG0	ZN620_HUMAN	I	272;158	ENSP00000322265:R272I;ENSP00000391472:R158I	.	R	+	2	0	ZNF620	40532904	0.000000	0.05858	0.805000	0.32314	0.521000	0.34408	-0.608000	0.05641	0.533000	0.28675	0.591000	0.81541	AGA		0.453	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060	
CTNNB1	1499	broad.mit.edu	37	3	41275649	41275649	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:41275649G>A	ENST00000349496.5	+	10	1824	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CTNNB1_ENST00000396185.3_Missense_Mutation_p.R515Q|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R508Q|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R515Q|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R515Q	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	515					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R515Q(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGATTGATTCGAAATCTTGCC	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.R515Q	Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1544A	3						.						152.0	134.0	140.0					3																	41275649		2203	4300	6503	41250653	SO:0001583	missense	1499	exon10	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1544G>A	3.37:g.41275649G>A	ENSP00000344456:p.Arg515Gln		41250653	NM_001098210	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543244	0.96474	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.053363	0.85682	D	0.000000	D	0.85225	0.5648	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.69479	0.865;0.964	D	0.87095	0.2175	10	0.48119	T	0.1	-12.54	20.1865	0.98220	0.0:0.0:1.0:0.0	.	443;515	B4DSW9;P35222	.;CTNB1_HUMAN	Q	515;515;515;508;515	ENSP00000385604:R515Q;ENSP00000379486:R515Q;ENSP00000344456:R515Q;ENSP00000411226:R508Q;ENSP00000379488:R515Q	ENSP00000344456:R515Q	R	+	2	0	CTNNB1	41250653	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.775000	0.95449	0.655000	0.94253	CGA		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
ULK4	54986	broad.mit.edu	37	3	41977373	41977373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:41977373C>A	ENST00000301831.4	-	4	760	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	ULK4_ENST00000420927.1_Nonsense_Mutation_p.E100*	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	100	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.E100*(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ATTCCAAATTCTCTCACAACA	0.373																																					p.E100X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G298T	3						.						133.0	128.0	129.0					3																	41977373		1884	4112	5996	41952377	SO:0001587	stop_gained	54986	exon4			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.298G>T	3.37:g.41977373C>A	ENSP00000301831:p.Glu100*		41952377	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Nonsense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	c	38	6.917765	0.97932	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	.	.	.	5.86	3.13	0.36017	.	0.611892	0.19061	N	0.123762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.3118	0.32075	0.0:0.7258:0.131:0.1431	.	.	.	.	X	100	.	ENSP00000301831:E100X	E	-	1	0	ULK4	41952377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.716000	0.47219	0.840000	0.34995	-0.121000	0.15023	GAA		0.373	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
CCDC13	152206	broad.mit.edu	37	3	42787435	42787435	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:42787435T>G	ENST00000310232.6	-	7	888	c.805A>C	c.(805-807)Att>Ctt	p.I269L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	269								p.I269L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AAAACAAGAATTTGTTGAGCC	0.517																																					p.I269L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A805C	3						.						79.0	77.0	78.0					3																	42787435		2203	4300	6503	42762439	SO:0001583	missense	152206	exon7			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.805A>C	3.37:g.42787435T>G	ENSP00000309836:p.Ile269Leu		42762439	NM_144719		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.953788	0.92660	.	.	ENSG00000244607	ENST00000310232	T	0.60672	0.17	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.85630	2.765	0.51767	D	0.999935	D	0.67145	0.996	D	0.77557	0.99	T	0.78802	-0.2061	10	0.40728	T	0.16	.	13.8423	0.63446	0.0:0.0:0.0:1.0	.	269	Q8IYE1	CCD13_HUMAN	L	269	ENSP00000309836:I269L	ENSP00000309836:I269L	I	-	1	0	CCDC13	42762439	1.000000	0.71417	0.865000	0.33974	0.988000	0.76386	6.712000	0.74681	1.922000	0.55676	0.533000	0.62120	ATT		0.517	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
ACKR2	1238	broad.mit.edu	37	3	42906744	42906744	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:42906744A>C	ENST00000422265.1	+	3	925	c.750A>C	c.(748-750)aaA>aaC	p.K250N	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.K250N|ACKR2_ENST00000442925.1_Missense_Mutation_p.K250N|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	250					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.K250N(1)									GGGCTTTAAAAATAGCTGCAG	0.522																																					p.K250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A750C	3						.						132.0	125.0	127.0					3																	42906744		2203	4300	6503	42881748	SO:0001583	missense	1238	exon3			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.750A>C	3.37:g.42906744A>C	ENSP00000416996:p.Lys250Asn		42881748	NM_001296	B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	A	6.421	0.445814	0.12164	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.45276	0.9;0.9;0.9	4.49	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.451712	0.17818	N	0.160971	T	0.40619	0.1124	L	0.48362	1.52	0.09310	N	0.999999	P	0.43542	0.81	P	0.47528	0.549	T	0.15065	-1.0450	9	.	.	.	.	8.0429	0.30532	0.2074:0.0:0.7926:0.0	.	250	O00590	CCBP2_HUMAN	N	250	ENSP00000396150:K250N;ENSP00000416996:K250N;ENSP00000273145:K250N	.	K	+	3	2	CCBP2	42881748	0.000000	0.05858	0.009000	0.14445	0.116000	0.19942	-0.009000	0.12765	0.448000	0.26722	0.460000	0.39030	AAA		0.522	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
TCAIM	285343	broad.mit.edu	37	3	44434423	44434423	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:44434423C>T	ENST00000342649.4	+	6	1076	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	TCAIM_ENST00000417237.1_Missense_Mutation_p.R217C	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	217						mitochondrion (GO:0005739)		p.R217C(1)									AGAACTAGATCGTTTAAAAGA	0.323																																					p.R217C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C649T	3						.						101.0	103.0	103.0					3																	44434423		2203	4296	6499	44409427	SO:0001583	missense	285343	exon6				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.649C>T	3.37:g.44434423C>T	ENSP00000341539:p.Arg217Cys		44409427	NM_173826	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.417801	0.83449	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.48836	0.8;0.8	5.78	5.78	0.91487	.	0.048877	0.85682	D	0.000000	T	0.70011	0.3175	M	0.71581	2.175	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.71520	-0.4568	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	217	Q8N3R3	CC023_HUMAN	C	217	ENSP00000402581:R217C;ENSP00000341539:R217C	ENSP00000341539:R217C	R	+	1	0	C3orf23	44409427	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	4.711000	0.61881	2.730000	0.93505	0.655000	0.94253	CGT		0.323	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
TGM4	7047	broad.mit.edu	37	3	44943320	44943320	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:44943320A>G	ENST00000296125.4	+	8	936	c.868A>G	c.(868-870)Aca>Gca	p.T290A	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	290					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T290A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ACGCAGTGTGACAGGCTTCGA	0.562																																					p.T290A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A868G	3						.						122.0	105.0	111.0					3																	44943320		2203	4300	6503	44918324	SO:0001583	missense	7047	exon8			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.868A>G	3.37:g.44943320A>G	ENSP00000296125:p.Thr290Ala		44918324	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330009	0.60743	.	.	ENSG00000163810	ENST00000296125	T	0.55760	0.5	3.03	0.347	0.16022	Transglutaminase-like (2);	0.145259	0.28021	U	0.016914	T	0.65396	0.2687	M	0.79475	2.455	0.35361	D	0.788216	D	0.89917	1.0	D	0.83275	0.996	T	0.67538	-0.5645	10	0.72032	D	0.01	.	4.7019	0.12830	0.7319:0.0:0.101:0.1671	.	290	P49221	TGM4_HUMAN	A	290	ENSP00000296125:T290A	ENSP00000296125:T290A	T	+	1	0	TGM4	44918324	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	3.807000	0.55591	-0.055000	0.13244	0.460000	0.39030	ACA		0.562	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
CDCP1	64866	broad.mit.edu	37	3	45153825	45153825	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:45153825G>A	ENST00000296129.1	-	3	539	c.405C>T	c.(403-405)atC>atT	p.I135I	CDCP1_ENST00000425231.2_Silent_p.I135I|CDCP1_ENST00000490471.1_5'Flank	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	135						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I135I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCTCTAAACCGATGCTCTTAT	0.552																																					p.I135I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C405T	3						.						161.0	167.0	165.0					3																	45153825		2203	4300	6503	45128829	SO:0001819	synonymous_variant	64866	exon3			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.405C>T	3.37:g.45153825G>A			45128829	NM_022842	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	CCDS2727.1																																																																																				0.552	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
CCR9	10803	broad.mit.edu	37	3	45942318	45942318	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:45942318T>C	ENST00000357632.2	+	3	218	c.38T>C	c.(37-39)aTg>aCg	p.M13T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W42R|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Start_Codon_SNP_p.M1T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Start_Codon_SNP_p.M1T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	13					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.M13T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATTCCTAACATGGCTGATGAC	0.448																																					p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	3						.						110.0	101.0	104.0					3																	45942318		2203	4300	6503	45917322	SO:0001583	missense	10803	exon2			AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.38T>C	3.37:g.45942318T>C	ENSP00000350256:p.Met13Thr		45917322	NM_006641	Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	CCDS2732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.33|10.33	1.319633|1.319633	0.23994|0.23994	.|.	.|.	ENSG00000173585|ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983|ENST00000422395	T;T;T|.	0.67865|.	-0.28;-0.29;-0.29|.	4.42|4.42	0.794|0.794	0.18638|0.18638	.|.	2.782670|.	0.02033|.	N|.	0.048728|.	T|T	0.24005|0.24005	0.0581|0.0581	N|N	0.05124|0.05124	-0.11|-0.11	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.11941|0.11941	-1.0567|-1.0567	10|6	0.66056|0.87932	D|D	0.02|0	.|.	1.0127|1.0127	0.01501|0.01501	0.1552:0.179:0.1606:0.5053|0.1552:0.179:0.1606:0.5053	.|.	13|.	P51686|.	CCR9_HUMAN|.	T|R	13;1;1|42	ENSP00000350256:M13T;ENSP00000379292:M1T;ENSP00000348260:M1T|.	ENSP00000348260:M1T|ENSP00000393267:W42R	M|W	+|+	2|1	0|0	CCR9|CCR9	45917322|45917322	0.000000|0.000000	0.05858|0.05858	0.019000|0.019000	0.16419|0.16419	0.381000|0.381000	0.30169|0.30169	-1.232000|-1.232000	0.02936|0.02936	0.291000|0.291000	0.22468|0.22468	0.460000|0.460000	0.39030|0.39030	ATG|TGG		0.448	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2		
PRSS42	339906	broad.mit.edu	37	3	46874626	46874626	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:46874626C>A	ENST00000429665.1	-	3	441	c.442G>T	c.(442-444)Gtc>Ttc	p.V148F	PRSS42_ENST00000447340.1_Missense_Mutation_p.V44F	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.V148F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						GCTCTTTGGACTGAGACCACC	0.453																																					p.V148F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	3						.						131.0	131.0	131.0					3																	46874626		1973	4151	6124	46849630	SO:0001583	missense	339906	exon3				CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.442G>T	3.37:g.46874626C>A	ENSP00000401701:p.Val148Phe		46849630	NM_182702		Missense_Mutation	SNP	ENST00000429665.1	37	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661254	0.47572	.	.	ENSG00000178055	ENST00000447340;ENST00000429665	D;T	0.95307	-3.67;1.03	4.43	-1.1	0.09872	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.524486	0.14471	N	0.317574	D	0.96731	0.8933	M	0.89095	3.005	0.09310	N	1	D;D	0.76494	0.999;0.984	D;D	0.87578	0.998;0.919	D	0.91333	0.5091	10	0.72032	D	0.01	.	8.0057	0.30323	0.0:0.3581:0.0:0.6419	.	148;44	Q7Z5A4;C9JX34	PRS42_HUMAN;.	F	44;148	ENSP00000401581:V44F;ENSP00000401701:V148F	ENSP00000401701:V148F	V	-	1	0	PRSS42	46849630	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.143000	0.16115	-0.485000	0.06754	0.505000	0.49811	GTC		0.453	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702	
SETD2	29072	broad.mit.edu	37	3	47162849	47162849	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:47162849T>G	ENST00000409792.3	-	3	3319	c.3277A>C	c.(3277-3279)Agt>Cgt	p.S1093R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1093					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.S1093R(1)|p.S590R(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)		TGTCTATAACTTTGACTGCTC	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.S1093R			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3277C	3						.						115.0	113.0	114.0					3																	47162849		2203	4300	6503	47137853	SO:0001583	missense	29072	exon3			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.3277A>C	3.37:g.47162849T>G	ENSP00000386759:p.Ser1093Arg		47137853	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	9.909	1.209045	0.22205	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89050	-2.46;1.39	5.31	4.15	0.48705	.	0.202758	0.35495	N	0.003176	T	0.78013	0.4217	N	0.14661	0.345	0.18873	N	0.999984	B;B	0.30068	0.267;0.144	B;B	0.27608	0.081;0.022	T	0.71839	-0.4471	10	0.72032	D	0.01	.	9.0914	0.36612	0.0:0.1252:0.0:0.8748	.	1093;1093	F2Z317;Q9BYW2	.;SETD2_HUMAN	R	1093;1093;1093;1049	ENSP00000386759:S1093R;ENSP00000416401:S1049R	ENSP00000386759:S1093R	S	-	1	0	SETD2	47137853	0.954000	0.32549	0.952000	0.39060	0.917000	0.54804	1.682000	0.37628	2.236000	0.73375	0.533000	0.62120	AGT		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
NDUFAF3	25915	broad.mit.edu	37	3	49062377	49062377	+	IGR	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:49062377G>T	ENST00000326925.6	+	0	2012				DALRD3_ENST00000496568.1_5'Flank|IMPDH2_ENST00000326739.4_Missense_Mutation_p.S416Y	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.S416Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCATCGAGAGAACCCATACC	0.537																																					p.S416Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1247A	3						.						90.0	84.0	86.0					3																	49062377		2203	4300	6503	49037381	SO:0001628	intergenic_variant	3615	exon11				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062377G>T			49037381	NM_000884		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670619|4.670619	0.88348|0.88348	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000326739	.|D	.|0.89810	.|-2.57	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97244|0.97244	0.9099|0.9099	H|H	0.99312|0.99312	4.51|4.51	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.99107|0.99107	1.0845|1.0845	5|10	.|0.87932	.|D	.|0	-13.3086|-13.3086	19.0076|19.0076	0.92857|0.92857	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|416	.|P12268	.|IMDH2_HUMAN	L|Y	371|416	.|ENSP00000321584:S416Y	.|ENSP00000321584:S416Y	F|S	-|-	3|2	2|0	IMPDH2|IMPDH2	49037381|49037381	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.990000|0.990000	0.78478|0.78478	9.321000|9.321000	0.96353|0.96353	2.489000|2.489000	0.83994|0.83994	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.537	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
LAMB2	3913	broad.mit.edu	37	3	49166482	49166482	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:49166482T>G	ENST00000418109.1	-	14	1866	c.1702A>C	c.(1702-1704)Att>Ctt	p.I568L	LAMB2_ENST00000305544.4_Missense_Mutation_p.I568L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	568	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.I568L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTCCCAAATTAGGTGGTCC	0.617																																					p.I568L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1702C	3						.						57.0	57.0	57.0					3																	49166482		2203	4300	6503	49141486	SO:0001583	missense	3913	exon13				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1702A>C	3.37:g.49166482T>G	ENSP00000388325:p.Ile568Leu		49141486	NM_002292	Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554711	0.27739	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.33654	1.4;1.4	5.27	4.11	0.48088	Laminin IV (1);	0.333222	0.31020	N	0.008405	T	0.18299	0.0439	N	0.11201	0.11	0.21950	N	0.999457	B	0.02656	0.0	B	0.01281	0.0	T	0.20240	-1.0281	10	0.15066	T	0.55	.	10.6011	0.45367	0.0:0.0762:0.0:0.9238	.	568	P55268	LAMB2_HUMAN	L	568	ENSP00000388325:I568L;ENSP00000307156:I568L	ENSP00000307156:I568L	I	-	1	0	LAMB2	49141486	0.999000	0.42202	0.945000	0.38365	0.995000	0.86356	2.144000	0.42197	0.847000	0.35167	0.533000	0.62120	ATT		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292	
RHOA	387	broad.mit.edu	37	3	49397763	49397763	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:49397763A>C	ENST00000418115.1	-	5	845	c.461T>G	c.(460-462)tTt>tGt	p.F154C	RHOA_ENST00000454011.2_3'UTR|RHOA_ENST00000422781.1_3'UTR|GPX1_ENST00000419349.1_5'Flank|GPX1_ENST00000496791.1_5'Flank|GPX1_ENST00000419783.1_5'Flank	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	154					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.F154C(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATGTACCCAAAAGCGCCAAT	0.438																																					p.F154C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T461G	3						.						330.0	273.0	292.0					3																	49397763		2203	4300	6503	49372767	SO:0001583	missense	387	exon5			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.461T>G	3.37:g.49397763A>C	ENSP00000400175:p.Phe154Cys		49372767	NM_001664	P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786506	0.70337	.	.	ENSG00000067560	ENST00000418115	T	0.76968	-1.06	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.110550	0.64402	D	0.000006	T	0.72708	0.3494	N	0.04959	-0.14	0.80722	D	1	P	0.38642	0.641	P	0.55112	0.769	T	0.77122	-0.2704	10	0.66056	D	0.02	.	10.6084	0.45408	0.8566:0.0:0.0:0.1434	.	154	P61586	RHOA_HUMAN	C	154	ENSP00000400175:F154C	ENSP00000400175:F154C	F	-	2	0	RHOA	49372767	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.307000	0.78920	2.308000	0.77769	0.533000	0.62120	TTT		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664	
RBM5	10181	broad.mit.edu	37	3	50151431	50151431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:50151431G>T	ENST00000347869.3	+	19	1841	c.1666G>T	c.(1666-1668)Gaa>Taa	p.E556*	RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	556	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E556*(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAAGCAGAAAGAAAACTTTAA	0.398																																					p.E556X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1666T	3						.						55.0	57.0	57.0					3																	50151431		2203	4300	6503	50126435	SO:0001587	stop_gained	10181	exon19			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1666G>T	3.37:g.50151431G>T	ENSP00000343054:p.Glu556*		50126435	NM_005778	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	37	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	40	8.154709	0.98680	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-19.2486	19.3898	0.94576	0.0:0.0:1.0:0.0	.	.	.	.	X	556;555;246	.	ENSP00000343054:E556X	E	+	1	0	RBM5	50126435	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.579000	0.87056	0.555000	0.69702	GAA		0.398	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778	
DOCK3	1795	broad.mit.edu	37	3	51127777	51127777	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:51127777C>A	ENST00000266037.9	+	9	731	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	236					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F236L(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)		CCGATGTCTTCTTTTCCTTAT	0.458																																					p.L223I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C667A	3						.						75.0	71.0	72.0					3																	51127777		1931	4146	6077	51102817	SO:0001583	missense	1795	exon9			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.708C>A	3.37:g.51127777C>A	ENSP00000266037:p.Phe236Leu		51102817	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946395	0.53079	.	.	ENSG00000088538	ENST00000266037	T	0.04603	3.59	5.33	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	L	0.28776	0.89	0.47778	D	0.999513	P	0.46784	0.884	P	0.47162	0.54	T	0.53739	-0.8396	10	0.14252	T	0.57	.	11.0644	0.47966	0.0:0.7823:0.0:0.2177	.	236	Q8IZD9	DOCK3_HUMAN	L	236	ENSP00000266037:F236L	ENSP00000266037:F236L	F	+	3	2	DOCK3	51102817	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.058000	0.49939	1.372000	0.46190	0.467000	0.42956	TTC		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51251554	51251554	+	Splice_Site	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:51251554T>C	ENST00000266037.9	+	14	1151	c.1128T>C	c.(1126-1128)ggT>ggC	p.G376G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	376					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.G376G(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)		TTTTTGCAGGTCTTATCATTT	0.368																																					p.S363P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1087C	3						.						103.0	97.0	99.0					3																	51251554		1862	4121	5983	51226594	SO:0001630	splice_region_variant	1795	exon14			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.1127-1T>C	3.37:g.51251554T>C			51226594	NM_004947	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.368	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	Silent
DOCK3	1795	broad.mit.edu	37	3	51315156	51315156	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:51315156C>T	ENST00000266037.9	+	26	2817	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	932					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R932W(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)		AAGAGGGCAGCGGTGCCCGCA	0.557																																					p.A918V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2753T	3						.						39.0	42.0	41.0					3																	51315156		2049	4180	6229	51290196	SO:0001583	missense	1795	exon26			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2794C>T	3.37:g.51315156C>T	ENSP00000266037:p.Arg932Trp		51290196	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106712	0.94292	.	.	ENSG00000088538	ENST00000266037	T	0.67345	-0.26	5.25	5.25	0.73442	.	0.050697	0.85682	D	0.000000	T	0.60051	0.2239	L	0.51422	1.61	0.80722	D	1	P	0.50617	0.937	B	0.34991	0.193	T	0.69472	-0.5136	10	0.72032	D	0.01	.	19.2367	0.93864	0.0:1.0:0.0:0.0	.	932	Q8IZD9	DOCK3_HUMAN	W	932	ENSP00000266037:R932W	ENSP00000266037:R932W	R	+	1	2	DOCK3	51290196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.976000	0.63785	2.637000	0.89404	0.585000	0.79938	CGG		0.557	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
ITIH3	3699	broad.mit.edu	37	3	52840981	52840981	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:52840981G>T	ENST00000449956.2	+	19	2127	c.2121G>T	c.(2119-2121)aaG>aaT	p.K707N	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	707					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K707N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGACCAGAAAGACTTACTTTG	0.572																																					p.K707N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2121T	3						.						31.0	34.0	33.0					3																	52840981		2042	4195	6237	52816021	SO:0001583	missense	3699	exon19				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.2121G>T	3.37:g.52840981G>T	ENSP00000415769:p.Lys707Asn		52816021	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	1.598	-0.527343	0.04141	.	.	ENSG00000162267	ENST00000273291;ENST00000449956	T	0.11712	2.75	5.41	1.47	0.22746	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.369436	0.29900	N	0.010905	T	0.04003	0.0112	N	0.12611	0.24	0.28404	N	0.918501	B	0.02656	0.0	B	0.06405	0.002	T	0.36962	-0.9726	10	0.15952	T	0.53	-15.0518	1.2283	0.01938	0.2624:0.1501:0.4335:0.1541	.	707	Q06033	ITIH3_HUMAN	N	702;707	ENSP00000415769:K707N	ENSP00000273291:K702N	K	+	3	2	ITIH3	52816021	0.999000	0.42202	0.356000	0.25785	0.910000	0.53928	0.306000	0.19279	-0.009000	0.14296	0.555000	0.69702	AAG		0.572	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
LRTM1	57408	broad.mit.edu	37	3	54958657	54958657	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:54958657A>C	ENST00000273286.5	-	2	755	c.593T>G	c.(592-594)tTt>tGt	p.F198C	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.F122C	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	198	LRRCT.					integral component of membrane (GO:0016021)		p.F198C(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTATAGACAAATTTCTCCAG	0.453																																					p.F198C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T593G	3						.						76.0	81.0	80.0					3																	54958657		2203	4300	6503	54933697	SO:0001583	missense	57408	exon2			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.593T>G	3.37:g.54958657A>C	ENSP00000273286:p.Phe198Cys		54933697	NM_020678	Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635366	0.67130	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90261	4.25;-2.64	5.82	5.82	0.92795	Cysteine-rich flanking region, C-terminal (1);	0.051462	0.85682	D	0.000000	D	0.95573	0.8561	M	0.85542	2.76	0.58432	D	0.999994	D	0.89917	1.0	D	0.73380	0.98	D	0.95662	0.8716	10	0.52906	T	0.07	.	16.1729	0.81831	1.0:0.0:0.0:0.0	.	198	Q9HBL6	LRTM1_HUMAN	C	198;122	ENSP00000273286:F198C;ENSP00000419772:F122C	ENSP00000273286:F198C	F	-	2	0	LRTM1	54933697	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	6.444000	0.73452	2.214000	0.71695	0.533000	0.62120	TTT		0.453	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678	
CCDC66	285331	broad.mit.edu	37	3	56601013	56601013	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:56601013C>A	ENST00000394672.3	+	6	816	c.746C>A	c.(745-747)aCt>aAt	p.T249N	CCDC66_ENST00000326595.7_Missense_Mutation_p.T215N|CCDC66_ENST00000538560.1_Missense_Mutation_p.T249N|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.T249N	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	249					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.T132N(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)		ATATTCAGTACTCTGGGGGAA	0.358																																					p.T249N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C746A	3						.						120.0	127.0	125.0					3																	56601013		2203	4300	6503	56576053	SO:0001583	missense	285331	exon6			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	ENST00000394672.3:c.746C>A	3.37:g.56601013C>A	ENSP00000378167:p.Thr249Asn		56576053	NM_001141947	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403169	0.83230	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27	5.51	5.51	0.81932	.	0.146935	0.44285	D	0.000474	D	0.99554	0.9840	M	0.76328	2.33	0.47621	D	0.999473	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98472	1.0601	10	0.62326	D	0.03	-3.125	17.595	0.88009	0.0:1.0:0.0:0.0	.	249;249	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	N	249;249;215;249;249	ENSP00000401451:T249N;ENSP00000378167:T249N;ENSP00000326050:T215N;ENSP00000404320:T249N;ENSP00000444919:T249N	ENSP00000326050:T215N	T	+	2	0	CCDC66	56576053	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	2.569000	0.45973	2.591000	0.87537	0.655000	0.94253	ACT		0.358	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
C3orf14	57415	broad.mit.edu	37	3	62319060	62319060	+	Missense_Mutation	SNP	G	G	A	rs368325890		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:62319060G>A	ENST00000494481.1	+	6	697	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R128Q|C3orf14_ENST00000542214.1_Missense_Mutation_p.R128Q|C3orf14_ENST00000232519.5_Missense_Mutation_p.R128Q|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	128								p.R128Q(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		GAGGCACAGCGATAACTTCTT	0.338																																					p.R128Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	3						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	74.0	74.0		383	-4.4	0.0	3		74	0,8600		0,0,4300	no	missense	C3orf14	NM_020685.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	128/129	62319060	1,13005	2203	4300	6503	62294100	SO:0001583	missense	57415	exon5			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.383G>A	3.37:g.62319060G>A	ENSP00000418086:p.Arg128Gln		62294100	NM_020685	B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619081	0.28801	2.27E-4	0.0	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	5.81	-4.4	0.03600	.	3.917030	0.01003	N	0.003710	T	0.09024	0.0223	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14896	-1.0456	9	0.08381	T	0.77	-10.9396	1.603	0.02678	0.4556:0.1058:0.2085:0.2302	.	128	Q9HBI5	CC014_HUMAN	Q	128	.	ENSP00000232519:R128Q	R	+	2	0	C3orf14	62294100	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.358000	0.07641	-1.006000	0.03412	-0.157000	0.13467	CGA		0.338	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685	
TMF1	7110	broad.mit.edu	37	3	69079085	69079085	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:69079085T>G	ENST00000398559.2	-	11	2691	c.2475A>C	c.(2473-2475)aaA>aaC	p.K825N	CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K828N|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	825					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		ACATCTGAATTTTGTTAGCAA	0.413																																					p.K825N												.	.	0			c.A2475C	3						.						150.0	148.0	149.0					3																	69079085		1894	4121	6015	69161775	SO:0001583	missense	7110	exon11				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2475A>C	3.37:g.69079085T>G	ENSP00000381567:p.Lys825Asn		69161775	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491624	0.44249	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.52983	0.64;0.64	5.67	0.644	0.17776	.	0.046995	0.85682	D	0.000000	T	0.30510	0.0767	L	0.32530	0.975	0.48135	D	0.999594	P;P	0.43973	0.604;0.823	B;B	0.37943	0.172;0.261	T	0.03473	-1.1033	10	0.32370	T	0.25	-20.4186	9.3773	0.38290	0.0:0.3475:0.0:0.6525	.	828;825	P82094-2;P82094	.;TMF1_HUMAN	N	825;828;741	ENSP00000381567:K825N;ENSP00000438706:K828N	ENSP00000348582:K741N	K	-	3	2	TMF1	69161775	0.999000	0.42202	0.987000	0.45799	0.994000	0.84299	0.635000	0.24629	0.116000	0.18110	0.482000	0.46254	AAA		0.413	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
ROBO1	6091	broad.mit.edu	37	3	78688900	78688900	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:78688900G>A	ENST00000464233.1	-	22	3144	c.3031C>T	c.(3031-3033)Cgc>Tgc	p.R1011C	ROBO1_ENST00000495273.1_Missense_Mutation_p.R966C|ROBO1_ENST00000467549.1_Missense_Mutation_p.R966C|ROBO1_ENST00000436010.2_Missense_Mutation_p.R972C	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1011					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)		TAACCTGGGCGACTGTAGGTA	0.483																																					p.R1011C												.	.	0			c.C3031T	3						.						100.0	100.0	100.0					3																	78688900		1984	4165	6149	78771590	SO:0001583	missense	6091	exon22			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.3031C>T	3.37:g.78688900G>A	ENSP00000420321:p.Arg1011Cys		78771590	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264602	0.80358	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64260	-0.06;-0.09;0.0;0.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.85130	0.996;0.943;0.997;0.899;0.931	T	0.74788	-0.3546	9	.	.	.	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	975;1011;966;966;972	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	C	972;966;1011;966;966;1015	ENSP00000406043:R972C;ENSP00000420321:R1011C;ENSP00000420637:R966C;ENSP00000417992:R966C	.	R	-	1	0	ROBO1	78771590	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	9.476000	0.97823	2.732000	0.93576	0.591000	0.81541	CGC		0.483	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
EPHA3	2042	broad.mit.edu	37	3	89448568	89448568	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:89448568C>T	ENST00000336596.2	+	7	1757	c.1532C>T	c.(1531-1533)gCc>gTc	p.A511V	EPHA3_ENST00000494014.1_Missense_Mutation_p.A511V|EPHA3_ENST00000452448.2_Missense_Mutation_p.A511V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	511	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.A511V(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)		CAAATCCGAGCCCGAACAGCC	0.463										TSP Lung(6;0.00050)																											p.A511V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1532T	3						.						93.0	90.0	91.0					3																	89448568		2203	4300	6503	89531258	SO:0001583	missense	2042	exon7			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.1532C>T	3.37:g.89448568C>T	ENSP00000337451:p.Ala511Val		89531258	NM_005233	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189396	0.94923	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.76060	-0.99;-0.99;-0.99	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.91259	0.5035	9	.	.	.	.	19.4691	0.94956	0.0:1.0:0.0:0.0	.	511;511	P29320;P29320-2	EPHA3_HUMAN;.	V	511	ENSP00000337451:A511V;ENSP00000399926:A511V;ENSP00000419190:A511V	.	A	+	2	0	EPHA3	89531258	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.818000	0.86416	2.607000	0.88179	0.563000	0.77884	GCC		0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
STX19	415117	broad.mit.edu	37	3	93733429	93733429	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:93733429A>C	ENST00000315099.2	-	2	941	c.685T>G	c.(685-687)Tta>Gta	p.L229V	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	229	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)		p.L229V(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						AGATCCCTTAAATCCTTTATT	0.323																																					p.L229V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T685G	3						.						65.0	66.0	66.0					3																	93733429		2202	4299	6501	95216119	SO:0001583	missense	415117	exon2			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.685T>G	3.37:g.93733429A>C	ENSP00000320679:p.Leu229Val		95216119	NM_001001850		Missense_Mutation	SNP	ENST00000315099.2	37	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	A	4.109	0.018389	0.07959	.	.	ENSG00000178750	ENST00000315099	T	0.38722	1.12	4.71	2.32	0.28847	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.64402	D	0.000002	T	0.32071	0.0817	M	0.64404	1.975	0.46061	D	0.998844	P	0.42785	0.79	B	0.35931	0.214	T	0.05500	-1.0881	10	0.38643	T	0.18	.	5.5712	0.17198	0.626:0.1364:0.2376:0.0	.	229	Q8N4C7	STX19_HUMAN	V	229	ENSP00000320679:L229V	ENSP00000320679:L229V	L	-	1	2	STX19	95216119	0.175000	0.23083	0.986000	0.45419	0.987000	0.75469	0.278000	0.18753	0.396000	0.25283	0.529000	0.55759	TTA		0.323	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850	
OR5K3	403277	broad.mit.edu	37	3	98110133	98110133	+	Silent	SNP	C	C	A	rs369365160		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:98110133C>A	ENST00000383695.1	+	1	624	c.624C>A	c.(622-624)atC>atA	p.I208I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, 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.I208I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CAATTCAAATCTTTACTATAG	0.308																																					p.I208I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C624A	3						.						100.0	99.0	99.0					3																	98110133		2203	4300	6503	99592823	SO:0001819	synonymous_variant	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.624C>A	3.37:g.98110133C>A			99592823	NM_001005516		Silent	SNP	ENST00000383695.1	37	CCDS33803.1																																																																																				0.308	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1		
TFRC	7037	broad.mit.edu	37	3	195798938	195798938	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr3:195798938G>A	ENST00000360110.4	-	5	689	c.520C>T	c.(520-522)Cgt>Tgt	p.R174C	TFRC_ENST00000392396.3_Missense_Mutation_p.R174C|TFRC_ENST00000420415.1_Missense_Mutation_p.R93C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	174					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)	p.R174C(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTAAATTCACGAAATTGATTT	0.358			T	BCL6	NHL																																p.R174C			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C520T	3						.						74.0	73.0	73.0					3																	195798938		2203	4300	6503	197283335	SO:0001583	missense	7037	exon5			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.520C>T	3.37:g.195798938G>A	ENSP00000353224:p.Arg174Cys		197283335	NM_003234	D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570086	0.28003	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.44083	0.93;0.93;0.93	5.5	0.686	0.18015	.	1.119740	0.06522	N	0.739921	T	0.51856	0.1699	M	0.79805	2.47	0.09310	N	0.999999	D	0.67145	0.996	P	0.45577	0.486	T	0.53788	-0.8389	10	0.66056	D	0.02	-0.0054	12.2853	0.54789	0.0:0.0:0.3267:0.6733	.	174	P02786	TFR1_HUMAN	C	174;93;174	ENSP00000353224:R174C;ENSP00000390133:R93C;ENSP00000376197:R174C	ENSP00000353224:R174C	R	-	1	0	TFRC	197283335	0.034000	0.19679	0.005000	0.12908	0.140000	0.21249	0.885000	0.28227	0.309000	0.22966	-0.293000	0.09583	CGT		0.358	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1		
OLR1	4973	broad.mit.edu	37	12	10324613	10324613	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:10324613T>A	ENST00000309539.3	-	1	124	c.64A>T	c.(64-66)Aaa>Taa	p.K22*	TMEM52B_ENST00000545924.1_Intron|OLR1_ENST00000545927.1_Nonsense_Mutation_p.K22*|OLR1_ENST00000544577.1_Nonsense_Mutation_p.K22*|OLR1_ENST00000432556.2_Nonsense_Mutation_p.K22*|TMEM52B_ENST00000381923.2_Intron	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	22					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)	p.K22*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TTAGCTTTTTTTCCATTTGAC	0.403																																					p.K22X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A64T	12						.						171.0	143.0	152.0					12																	10324613		2203	4300	6503	10215880	SO:0001587	stop_gained	4973	exon1			D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.64A>T	12.37:g.10324613T>A	ENSP00000309124:p.Lys22*		10215880	NM_002543	A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Nonsense_Mutation	SNP	ENST00000309539.3	37	CCDS8618.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848496	0.71603	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000545927;ENST00000432556	.	.	.	4.09	-1.7	0.08159	.	0.694331	0.13175	N	0.407952	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.515	0.16902	0.0:0.1648:0.1756:0.6596	.	.	.	.	X	22	.	ENSP00000309124:K22X	K	-	1	0	OLR1	10215880	0.000000	0.05858	0.003000	0.11579	0.928000	0.56348	-0.974000	0.03794	-0.324000	0.08589	0.477000	0.44152	AAA		0.403	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543	
MYBPC1	4604	broad.mit.edu	37	12	102060533	102060533	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:102060533A>C	ENST00000550270.1	+	21	2293	c.2293A>C	c.(2293-2295)Aaa>Caa	p.K765Q	MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K765Q|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000361466.2_Intron|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K765Q|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K778Q|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K765Q|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000361685.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000551300.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	765	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.K765Q(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						TACATCAGCAAAACAGTCTGA	0.368																																					p.K765Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2293C	12						.						135.0	142.0	140.0					12																	102060533		2203	4300	6503	100584664	SO:0001583	missense	4604	exon21				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.2293A>C	12.37:g.102060533A>C	ENSP00000449702:p.Lys765Gln		100584664	NM_206820	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.698087	0.48307	.	.	ENSG00000196091	ENST00000452455;ENST00000441232;ENST00000360610;ENST00000549145;ENST00000550270	T;T;T;T;T	0.60299	0.21;0.2;0.21;0.21;0.21	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37625	0.1010	N	0.14661	0.345	0.18873	N	0.999987	P;P	0.35793	0.521;0.521	B;B	0.35182	0.197;0.197	T	0.16837	-1.0389	9	0.34782	T	0.22	.	6.3807	0.21533	0.8721:0.0:0.1279:0.0	.	765;765	E7EWS6;Q00872	.;MYPC1_HUMAN	Q	765;765;765;778;765	ENSP00000400908:K765Q;ENSP00000388989:K765Q;ENSP00000353822:K765Q;ENSP00000447660:K778Q;ENSP00000449702:K765Q	ENSP00000353822:K765Q	K	+	1	0	MYBPC1	100584664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.968000	0.56809	2.307000	0.77673	0.528000	0.53228	AAA		0.368	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
STAB2	55576	broad.mit.edu	37	12	104049075	104049075	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:104049075C>A	ENST00000388887.2	+	14	1802	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.S533Y(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						AAGTTCAGATCTTTGTTAGAG	0.299																																					p.S533Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1598A	12						.						113.0	114.0	114.0					12																	104049075		2203	4300	6503	102573205	SO:0001583	missense	55576	exon14			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.1598C>A	12.37:g.104049075C>A	ENSP00000373539:p.Ser533Tyr		102573205	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558702	0.65538	.	.	ENSG00000136011	ENST00000388887	D	0.92249	-3.0	5.71	5.71	0.89125	FAS1 domain (4);	0.277143	0.36815	N	0.002392	D	0.95497	0.8537	M	0.80982	2.52	0.42295	D	0.99215	D	0.71674	0.998	D	0.66979	0.948	D	0.95631	0.8689	10	0.72032	D	0.01	.	12.7882	0.57518	0.0:0.9246:0.0:0.0754	.	533	Q8WWQ8	STAB2_HUMAN	Y	533	ENSP00000373539:S533Y	ENSP00000373539:S533Y	S	+	2	0	STAB2	102573205	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.386000	0.52492	2.704000	0.92352	0.561000	0.74099	TCT		0.299	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
STAB2	55576	broad.mit.edu	37	12	104054536	104054536	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:104054536G>A	ENST00000388887.2	+	17	2068	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.D622N(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						CAACACCACCGACAATGTAAG	0.453																																					p.D622N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1864A	12						.						193.0	156.0	169.0					12																	104054536		2203	4300	6503	102578666	SO:0001583	missense	55576	exon17			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.1864G>A	12.37:g.104054536G>A	ENSP00000373539:p.Asp622Asn		102578666	NM_017564		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	9.875	1.199988	0.22121	.	.	ENSG00000136011	ENST00000388887	D	0.90261	-2.64	5.63	-6.76	0.01732	FAS1 domain (5);	2.263330	0.01515	N	0.018111	D	0.85089	0.5617	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.70303	-0.4909	10	0.20046	T	0.44	.	11.1632	0.48528	0.7241:0.0846:0.1913:0.0	.	622	Q8WWQ8	STAB2_HUMAN	N	622	ENSP00000373539:D622N	ENSP00000373539:D622N	D	+	1	0	STAB2	102578666	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.218000	0.09240	-1.172000	0.02762	-0.140000	0.14226	GAC		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1		
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:106857272G>A	ENST00000228347.4	+	23	2809	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N	POLR3B_ENST00000539066.1_Missense_Mutation_p.D805N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	863					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.D863N(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						AGGAGCAACAGACTCATATAT	0.378																																					p.D863N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2587A	12						.						68.0	67.0	67.0					12																	106857272		2203	4300	6503	105381402	SO:0001583	missense	55703	exon23			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.2587G>A	12.37:g.106857272G>A	ENSP00000228347:p.Asp863Asn		105381402	NM_018082	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808245	0.50421	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71934	-0.61;-0.61	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.040742	0.85682	D	0.000000	T	0.58552	0.2130	N	0.12887	0.27	0.80722	D	1	B	0.15719	0.014	B	0.22152	0.038	T	0.52381	-0.8583	10	0.40728	T	0.16	-29.9656	19.8984	0.96975	0.0:0.0:1.0:0.0	.	863	Q9NW08	RPC2_HUMAN	N	863;805	ENSP00000228347:D863N;ENSP00000445721:D805N	ENSP00000228347:D863N	D	+	1	0	POLR3B	105381402	1.000000	0.71417	0.953000	0.39169	0.109000	0.19521	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GAC		0.378	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	
BTBD11	121551	broad.mit.edu	37	12	107914293	107914293	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:107914293C>A	ENST00000280758.5	+	2	1693	c.1165C>A	c.(1165-1167)Ctt>Att	p.L389I	BTBD11_ENST00000420571.2_Missense_Mutation_p.L389I|BTBD11_ENST00000490090.2_Missense_Mutation_p.L389I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	389						integral component of membrane (GO:0016021)		p.L389I(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						CAGCCTGAATCTTCACAGAGA	0.537																																					p.L389I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1165A	12						.						122.0	114.0	117.0					12																	107914293		2203	4300	6503	106438423	SO:0001583	missense	121551	exon2			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.1165C>A	12.37:g.107914293C>A	ENSP00000280758:p.Leu389Ile		106438423	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189857	0.57909	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000415943	T;T;T;T	0.53423	1.26;1.31;1.3;0.62	4.1	4.1	0.47936	Histone-fold (2);	0.078670	0.47852	D	0.000210	T	0.50701	0.1631	L	0.42245	1.32	0.80722	D	1	D;P;D	0.54207	0.965;0.849;0.962	P;B;B	0.53360	0.724;0.396;0.438	T	0.40646	-0.9552	10	0.14656	T	0.56	.	17.2433	0.87021	0.0:1.0:0.0:0.0	.	389;389;389	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	I	389;389;389;23	ENSP00000280758:L389I;ENSP00000413889:L389I;ENSP00000447319:L389I;ENSP00000407416:L23I	ENSP00000280758:L389I	L	+	1	0	BTBD11	106438423	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.335000	0.79234	2.229000	0.72834	0.655000	0.94253	CTT		0.537	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
WSCD2	9671	broad.mit.edu	37	12	108604021	108604021	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:108604021C>T	ENST00000332082.4	+	5	1439	c.621C>T	c.(619-621)tgC>tgT	p.C207C	WSCD2_ENST00000549903.1_Silent_p.C207C|WSCD2_ENST00000547525.1_Silent_p.C207C|WSCD2_ENST00000261400.3_Silent_p.C207C			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	207	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.C207C(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCAGCGTGTGCGGCGGCGCCA	0.682																																					p.C207C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C621T	12						.						15.0	21.0	19.0					12																	108604021		2198	4280	6478	107128151	SO:0001819	synonymous_variant	9671	exon4				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.621C>T	12.37:g.108604021C>T			107128151	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	CCDS41828.1																																																																																				0.682	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
WSCD2	9671	broad.mit.edu	37	12	108618546	108618546	+	Missense_Mutation	SNP	G	G	A	rs139768498	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:108618546G>A	ENST00000332082.4	+	6	1531	c.713G>A	c.(712-714)cGc>cAc	p.R238H	WSCD2_ENST00000549903.1_Missense_Mutation_p.R238H|WSCD2_ENST00000547525.1_Missense_Mutation_p.R238H|WSCD2_ENST00000261400.3_Missense_Mutation_p.R238H			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	238	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.R238H(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						GGCTGCTTCCGCAGGCCCGAC	0.532													G|||	7	0.00139776	0.0053	0.0	5008	,	,		21813	0.0		0.0	False		,,,				2504	0.0				p.R238H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713A	12						.	G	HIS/ARG	4,3828		0,4,1912	68.0	72.0	71.0		713	2.4	1.0	12	dbSNP_134	71	1,8271		0,1,4135	yes	missense	WSCD2	NM_014653.2	29	0,5,6047	AA,AG,GG		0.0121,0.1044,0.0413	benign	238/566	108618546	5,12099	1916	4136	6052	107142676	SO:0001583	missense	9671	exon5				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.713G>A	12.37:g.108618546G>A	ENSP00000331933:p.Arg238His		107142676	NM_014653	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	13.59	2.282653	0.40394	0.001044	1.21E-4	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.39	2.4	0.29515	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.150693	0.64402	N	0.000015	T	0.34513	0.0900	L	0.41961	1.31	0.51482	D	0.999928	B	0.11235	0.004	B	0.14578	0.011	T	0.35126	-0.9801	10	0.54805	T	0.06	-36.3526	10.5165	0.44892	0.2469:0.0:0.7531:0.0	.	238	Q2TBF2	WSCD2_HUMAN	H	238;238;85;238;238	ENSP00000448047:R238H;ENSP00000261400:R238H;ENSP00000446744:R85H;ENSP00000331933:R238H;ENSP00000447272:R238H	ENSP00000261400:R238H	R	+	2	0	WSCD2	107142676	0.790000	0.28787	0.993000	0.49108	0.632000	0.37999	0.856000	0.27818	0.847000	0.35167	0.655000	0.94253	CGC		0.532	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
TAS2R10	50839	broad.mit.edu	37	12	10978130	10978130	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:10978130T>G	ENST00000240619.2	-	1	827	c.739A>C	c.(739-741)Ata>Cta	p.I247L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	247					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.I247V(1)|p.I247L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAACATGATATTTCTATGGCC	0.378																																					p.I247L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A739C	12						.						104.0	102.0	103.0					12																	10978130		2203	4300	6503	10869397	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.739A>C	12.37:g.10978130T>G	ENSP00000240619:p.Ile247Leu		10869397	NM_023921	Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438524	0.25900	.	.	ENSG00000121318	ENST00000240619	T	0.00753	5.74	4.04	-2.67	0.06059	.	0.640097	0.12626	N	0.452612	T	0.01189	0.0039	M	0.81942	2.565	0.09310	N	1	B	0.18741	0.03	B	0.29663	0.105	T	0.41627	-0.9498	10	0.30078	T	0.28	.	3.1554	0.06503	0.4674:0.2365:0.0:0.2961	.	247	Q9NYW0	T2R10_HUMAN	L	247	ENSP00000240619:I247L	ENSP00000240619:I247L	I	-	1	0	TAS2R10	10869397	0.000000	0.05858	0.007000	0.13788	0.064000	0.16182	-5.237000	0.00138	-0.573000	0.05998	0.477000	0.44152	ATA		0.378	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
FOXN4	121643	broad.mit.edu	37	12	109723184	109723184	+	Missense_Mutation	SNP	C	C	T	rs373055287		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:109723184C>T	ENST00000299162.5	-	8	930	c.826G>A	c.(826-828)Gac>Aac	p.D276N	FOXN4_ENST00000355216.1_Missense_Mutation_p.D96N	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	276					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.D276N(1)|p.D96N(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCCATCTTGTCGATGCGGGCC	0.612																																					p.D276N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G826A	12						.	C	ASN/ASP	0,4406		0,0,2203	82.0	65.0	71.0		826	3.8	1.0	12		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXN4	NM_213596.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	276/518	109723184	1,13005	2203	4300	6503	108207567	SO:0001583	missense	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.826G>A	12.37:g.109723184C>T	ENSP00000299162:p.Asp276Asn		108207567	NM_213596	Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.785985|2.785985	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000139445|ENSG00000139445	ENST00000355216;ENST00000299162|ENST00000266856	D;D|.	0.95412|.	-3.7;-3.7|.	4.71|4.71	3.81|3.81	0.43845|0.43845	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.955;0.955|.	P;P|.	0.51079|.	0.658;0.557|.	T|T	0.63207|0.63207	-0.6689|-0.6689	10|6	0.14252|0.87932	T|D	0.57|0	-10.5193|-10.5193	12.1006|12.1006	0.53780|0.53780	0.0:0.916:0.0:0.084|0.0:0.916:0.0:0.084	.|.	276;276|.	A6H901;Q96NZ1|.	.;FOXN4_HUMAN|.	N|Q	96;276|234	ENSP00000347354:D96N;ENSP00000299162:D276N|.	ENSP00000299162:D276N|ENSP00000266856:R234Q	D|R	-|-	1|2	0|0	FOXN4|FOXN4	108207567|108207567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	7.783000|7.783000	0.85696|0.85696	1.109000|1.109000	0.41680|0.41680	0.555000|0.555000	0.69702|0.69702	GAC|CGA		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735	
ATP2A2	488	broad.mit.edu	37	12	110778764	110778764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:110778764G>T	ENST00000539276.2	+	14	2171	c.2062G>T	c.(2062-2064)Gaa>Taa	p.E688*	ATP2A2_ENST00000308664.6_Nonsense_Mutation_p.E688*|ATP2A2_ENST00000395494.2_Nonsense_Mutation_p.E661*			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	688					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.E688*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAAAATCGTAGAATTTCTTCA	0.483																																					p.E688X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2062T	12						.						45.0	47.0	46.0					12																	110778764		2203	4300	6503	109263147	SO:0001587	stop_gained	488	exon14				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2062G>T	12.37:g.110778764G>T	ENSP00000440045:p.Glu688*		109263147	NM_170665	A6NDN7|B4DF05|P16614|Q86VJ2	Nonsense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.601956|6.601956	0.97697|0.97697	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	.|.	.|.	.|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80037	.|0.4550	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77705	.|-0.2488	.|3	0.25106|.	T|.	0.35|.	.|.	20.0784|20.0784	0.97758|0.97758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	688;661;688|578	.|.	ENSP00000311186:E688X|.	E|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109263147|109263147	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.989000|0.989000	0.77384|0.77384	9.869000|9.869000	0.99810|0.99810	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.483	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
MYL2	4633	broad.mit.edu	37	12	111353562	111353562	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:111353562G>A	ENST00000228841.8	-	3	173	c.126C>T	c.(124-126)ggC>ggT	p.G42G	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.G42G(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TGTCAATGAAGCCATCCCTGT	0.527																																					p.G42G	GBM(14;268 426 18829 21617 25540)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	12						.						241.0	206.0	218.0					12																	111353562		2203	4300	6503	109837945	SO:0001819	synonymous_variant	4633	exon3				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.126C>T	12.37:g.111353562G>A			109837945	NM_000432	Q16123	Silent	SNP	ENST00000228841.8	37	CCDS31901.1																																																																																				0.527	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432	
RPL6	6128	broad.mit.edu	37	12	112843793	112843793	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:112843793A>C	ENST00000424576.2	-	6	763	c.578T>G	c.(577-579)tTt>tGt	p.F193C	RPL6_ENST00000202773.9_Missense_Mutation_p.F193C	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	193				LNRVPLRRTHQKFVIATSTKIDISN -> SIEFLYEEHTRN LSLPLQPKSISAI (in Ref. 5; AAB30819). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F193C(2)		cervix(1)|large_intestine(6)|lung(3)	10						GGCAATGACAAATTTCTGGTG	0.413																																					p.F193C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T578G	12						.						48.0	50.0	49.0					12																	112843793		2203	4298	6501	111328176	SO:0001583	missense	6128	exon6			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.578T>G	12.37:g.112843793A>C	ENSP00000403172:p.Phe193Cys		111328176	NM_001024662	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167826	0.57476	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.35048	1.33;1.33	5.05	5.05	0.67936	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.85630	2.765	0.58432	D	0.999997	B	0.19200	0.034	B	0.27262	0.078	T	0.53542	-0.8424	10	0.87932	D	0	.	14.8254	0.70107	1.0:0.0:0.0:0.0	.	193	Q02878	RL6_HUMAN	C	193;193;133	ENSP00000202773:F193C;ENSP00000403172:F193C	ENSP00000202773:F193C	F	-	2	0	RPL6	111328176	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.604000	0.90877	1.906000	0.55180	0.482000	0.46254	TTT		0.413	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1		
PLBD2	196463	broad.mit.edu	37	12	113821939	113821939	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:113821939G>T	ENST00000280800.3	+	7	1018	c.987G>T	c.(985-987)aaG>aaT	p.K329N	PLBD2_ENST00000545182.2_Missense_Mutation_p.K329N	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	329					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.K329N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTGGCAACAAGAACCCAGCCC	0.622																																					p.K329N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G987T	12						.						69.0	61.0	64.0					12																	113821939		2203	4300	6503	112306322	SO:0001583	missense	196463	exon7			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.987G>T	12.37:g.113821939G>T	ENSP00000280800:p.Lys329Asn		112306322	NM_001159727	F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.954941	0.18431	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17528	2.27;2.27	4.84	3.95	0.45737	.	0.722612	0.13003	N	0.421508	T	0.08223	0.0205	N	0.10972	0.075	0.27211	N	0.959906	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.36187	-0.9758	10	0.18276	T	0.48	-12.2249	6.4492	0.21894	0.0:0.4813:0.3019:0.2169	.	329;329	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	N	329	ENSP00000443463:K329N;ENSP00000280800:K329N	ENSP00000280800:K329N	K	+	3	2	PLBD2	112306322	0.997000	0.39634	0.998000	0.56505	0.956000	0.61745	1.160000	0.31761	1.020000	0.39573	0.305000	0.20034	AAG		0.622	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
RBM19	9904	broad.mit.edu	37	12	114397111	114397111	+	Silent	SNP	C	C	T	rs573482794	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:114397111C>T	ENST00000545145.2	-	5	555	c.477G>A	c.(475-477)tcG>tcA	p.S159S	RBM19_ENST00000392561.3_Silent_p.S159S|RBM19_ENST00000261741.5_Silent_p.S159S	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	159					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S159S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTTCCCTTTCGAGGGCTCAG	0.597													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16881	0.0		0.0	False		,,,				2504	0.001				p.S159S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G477A	12						.						120.0	101.0	108.0					12																	114397111		2203	4300	6503	112881494	SO:0001819	synonymous_variant	9904	exon5			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.477G>A	12.37:g.114397111C>T			112881494	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	CCDS9172.1																																																																																				0.597	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
MED13L	23389	broad.mit.edu	37	12	116675341	116675341	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:116675341T>G	ENST00000281928.3	-	2	448	c.242A>C	c.(241-243)aAa>aCa	p.K81T	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	81						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K81T(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCATAACTCTTTGCAATCTGG	0.423																																					p.K81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A242C	12						.						152.0	137.0	142.0					12																	116675341		2203	4300	6503	115159724	SO:0001583	missense	23389	exon2			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.242A>C	12.37:g.116675341T>G	ENSP00000281928:p.Lys81Thr		115159724	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666385	0.67814	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.81247	-1.47;-1.47	5.57	4.44	0.53790	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.000000	0.64402	D	0.000002	D	0.85177	0.5637	L	0.58510	1.815	0.45161	D	0.998172	D	0.63046	0.992	D	0.63283	0.913	D	0.86364	0.1719	10	0.87932	D	0	.	10.9116	0.47112	0.0:0.0734:0.0:0.9266	.	81	Q71F56	MD13L_HUMAN	T	81;71	ENSP00000281928:K81T;ENSP00000448553:K71T	ENSP00000281928:K81T	K	-	2	0	MED13L	115159724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.101000	0.64566	2.123000	0.65237	0.459000	0.35465	AAA		0.423	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
FBXO21	23014	broad.mit.edu	37	12	117610305	117610305	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:117610305G>T	ENST00000330622.5	-	7	983	c.984C>A	c.(982-984)ttC>ttA	p.F328L	FBXO21_ENST00000549689.1_5'Flank|FBXO21_ENST00000427718.2_Missense_Mutation_p.F328L			O94952	FBX21_HUMAN	F-box protein 21	328					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.F328L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ACCTTAATAAGAAGTGACTTG	0.502																																					p.F328L	GBM(168;452 2038 13535 17701 43680)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C984A	12						.						117.0	105.0	109.0					12																	117610305		2203	4300	6503	116094688	SO:0001583	missense	23014	exon7			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.984C>A	12.37:g.117610305G>T	ENSP00000328187:p.Phe328Leu		116094688	NM_015002	B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.786137|4.786137	0.90282|0.90282	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.57752|.	0.39;0.38|.	5.45|5.45	4.55|4.55	0.56014|0.56014	F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62865|0.62865	0.2463|0.2463	L|L	0.53729|0.53729	1.69|1.69	0.53005|0.53005	D|D	0.999967|0.999967	D;D;D|.	0.76494|.	0.999;0.979;0.993|.	D;D;P|.	0.85130|.	0.997;0.982;0.876|.	T|T	0.60047|0.60047	-0.7339|-0.7339	10|5	0.37606|.	T|.	0.19|.	-12.0798|-12.0798	12.7378|12.7378	0.57234|0.57234	0.1341:0.0:0.8659:0.0|0.1341:0.0:0.8659:0.0	.|.	244;328;328|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	L|I	328;244;244;328|272	ENSP00000414468:F328L;ENSP00000328187:F328L|.	ENSP00000257563:F244L|.	F|L	-|-	3|1	2|0	FBXO21|FBXO21	116094688|116094688	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.897000|0.897000	0.52465|0.52465	3.845000|3.845000	0.55880|0.55880	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	TTC|CTT		0.502	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624	
KSR2	283455	broad.mit.edu	37	12	118405898	118405898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	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	
VSIG10	54621	broad.mit.edu	37	12	118511730	118511730	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:118511730G>A	ENST00000359236.5	-	5	1269	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	331	Ig-like C2-type 4.					integral component of membrane (GO:0016021)		p.C331C(1)		endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGACACCTGGCATGTAAGCG	0.562																																					p.C331C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	12						.						50.0	51.0	51.0					12																	118511730		1944	4150	6094	116996113	SO:0001819	synonymous_variant	54621	exon5				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.993C>T	12.37:g.118511730G>A			116996113	NM_019086	Q9NWQ7	Silent	SNP	ENST00000359236.5	37	CCDS44992.1																																																																																				0.562	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086	
CIT	11113	broad.mit.edu	37	12	120159173	120159173	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:120159173G>A	ENST00000261833.7	-	28	3599	c.3547C>T	c.(3547-3549)Cgg>Tgg	p.R1183W	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1225W	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1183	Interaction with Rho/Rac.				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.R1226W(1)|p.R1183W(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)		AGATCAGCCCGATCTAGAGCT	0.473																																					p.R1183W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3547T	12						.						157.0	138.0	144.0					12																	120159173		2203	4300	6503	118643556	SO:0001583	missense	11113	exon28			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.3547C>T	12.37:g.120159173G>A	ENSP00000261833:p.Arg1183Trp		118643556	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745423	0.89663	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65364	-0.11;-0.15	5.91	5.01	0.66863	.	0.070538	0.64402	D	0.000014	T	0.61048	0.2316	L	0.34521	1.04	0.51233	D	0.999913	D;D;D	0.76494	0.999;0.999;0.997	P;P;P	0.50490	0.642;0.642;0.627	T	0.66139	-0.5998	10	0.87932	D	0	.	14.7712	0.69679	0.0:0.0:0.7369:0.2631	.	1225;1183;716	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	W	1225;1183	ENSP00000376306:R1225W;ENSP00000261833:R1183W	ENSP00000261833:R1183W	R	-	1	2	CIT	118643556	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	5.662000	0.68032	1.474000	0.48178	0.655000	0.94253	CGG		0.473	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
CLIP1	6249	broad.mit.edu	37	12	122825734	122825734	+	Missense_Mutation	SNP	C	C	T	rs201352592		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:122825734C>T	ENST00000540338.1	-	10	2058	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	CLIP1_ENST00000358808.2_Missense_Mutation_p.E662K|CLIP1_ENST00000361654.4_Missense_Mutation_p.E627K|CLIP1_ENST00000537178.1_Missense_Mutation_p.E627K|CLIP1_ENST00000302528.7_Missense_Mutation_p.E662K|CLIP1_ENST00000545889.1_Missense_Mutation_p.E363K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	673					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.E662K(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)		TTTTCTATTTCGTGTTGGTAA	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20755	0.0		0.0	False		,,,				2504	0.0				p.E627K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1879A	12						.	C	LYS/GLU,LYS/GLU	3,4403	4.2+/-10.8	0,3,2200	138.0	142.0	141.0		1984,1879	4.6	0.9	12		141	0,8600		0,0,4300	no	missense,missense	CLIP1	NM_002956.2,NM_198240.1	56,56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	662/1428,627/1393	122825734	3,13003	2203	4300	6503	121391687	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.2017G>A	12.37:g.122825734C>T	ENSP00000439093:p.Glu673Lys		121391687	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	27.6	4.848676	0.91277	6.81E-4	0.0	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.63744	2.53;0.62;0.62;0.51;0.56;-0.06	5.5	4.61	0.57282	.	0.105274	0.64402	N	0.000003	T	0.75273	0.3827	M	0.71036	2.16	0.58432	D	0.999999	P;D;D;D	0.71674	0.681;0.997;0.997;0.998	B;D;D;P	0.64042	0.071;0.921;0.921;0.906	T	0.76011	-0.3115	10	0.40728	T	0.16	-14.727	14.5804	0.68284	0.0:0.9298:0.0:0.0702	.	363;627;662;673	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	K	363;662;662;507;627;673;596	ENSP00000438743:E363K;ENSP00000303585:E662K;ENSP00000351665:E662K;ENSP00000445531:E627K;ENSP00000439093:E673K;ENSP00000437786:E596K	ENSP00000303585:E662K	E	-	1	0	CLIP1	121391687	1.000000	0.71417	0.909000	0.35828	0.985000	0.73830	7.445000	0.80570	1.459000	0.47892	0.655000	0.94253	GAA		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
LRP6	4040	broad.mit.edu	37	12	12317235	12317235	+	Missense_Mutation	SNP	C	C	T	rs376188127		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:12317235C>T	ENST00000261349.4	-	9	2100	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R675Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	675	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R675Q(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAATTCGGTTGTCTGT	0.358																																					p.R675Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2024A	12						.	C	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	85.0	87.0	86.0		2024	5.4	1.0	12		86	0,8600		0,0,4300	no	missense	LRP6	NM_002336.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	675/1614	12317235	1,13003	2202	4300	6502	12208502	SO:0001583	missense	4040	exon9			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2024G>A	12.37:g.12317235C>T	ENSP00000261349:p.Arg675Gln		12208502	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132673	0.94517	2.27E-4	0.0	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96802	-4.13;-4.13	5.41	5.41	0.78517	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.97785	0.9273	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.941	D	0.96857	0.9629	10	0.31617	T	0.26	.	19.571	0.95419	0.0:1.0:0.0:0.0	.	675;675	F5H7J9;O75581	.;LRP6_HUMAN	Q	675	ENSP00000261349:R675Q;ENSP00000442472:R675Q	ENSP00000261349:R675Q	R	-	2	0	LRP6	12208502	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	6.013000	0.70776	2.709000	0.92574	0.655000	0.94253	CGA		0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
ZCCHC8	55596	broad.mit.edu	37	12	122966147	122966147	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:122966147G>A	ENST00000336229.4	-	10	1070	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.R76C|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.R76C	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	314					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.R314C(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)		CCTAGCTGGCGCATCCGATAG	0.428																																					p.R314C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940T	12						.						92.0	91.0	91.0					12																	122966147		1835	4091	5926	121532100	SO:0001583	missense	55596	exon10			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.940C>T	12.37:g.122966147G>A	ENSP00000337313:p.Arg314Cys		121532100	NM_017612	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.424067	0.83667	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.70282	-0.47;-0.47;0.08	5.47	4.54	0.55810	PSP, proline-rich (2);	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88226	0.2900	10	0.87932	D	0	-13.2062	15.6143	0.76753	0.0:0.0:0.8619:0.1381	.	314	Q6NZY4	ZCHC8_HUMAN	C	76;76;314;76;76	ENSP00000441423:R76C;ENSP00000438993:R76C;ENSP00000337313:R314C	ENSP00000337313:R314C	R	-	1	0	ZCCHC8	121532100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.411000	0.59781	2.573000	0.86826	0.455000	0.32223	CGC		0.428	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
SBNO1	55206	broad.mit.edu	37	12	123810863	123810863	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:123810863G>A	ENST00000602398.1	-	14	1838	c.1711C>T	c.(1711-1713)Cgg>Tgg	p.R571W	SBNO1_ENST00000267176.4_Missense_Mutation_p.R570W|SBNO1_ENST00000602750.1_Missense_Mutation_p.R570W|SBNO1_ENST00000420886.2_Missense_Mutation_p.R571W			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	571					regulation of transcription, DNA-templated (GO:0006355)			p.R570W(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGCTGAAACCGCTCTCTGGCG	0.398																																					p.R570W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1708T	12						.						135.0	123.0	127.0					12																	123810863		2203	4300	6503	122376816	SO:0001583	missense	55206	exon13			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1711C>T	12.37:g.123810863G>A	ENSP00000473665:p.Arg571Trp		122376816	NM_018183	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057300	0.76074	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.32753	1.44;1.44	6.07	2.88	0.33553	.	0.118377	0.53938	D	0.000046	T	0.29321	0.0730	L	0.29908	0.895	0.49051	D	0.999741	D;P;P	0.57899	0.981;0.917;0.956	B;P;P	0.48227	0.368;0.571;0.502	T	0.09684	-1.0663	10	0.66056	D	0.02	-17.4488	13.7466	0.62879	0.0:0.0:0.3215:0.6785	.	571;570;569	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	W	571;570;570	ENSP00000387361:R571W;ENSP00000267176:R570W	ENSP00000267176:R570W	R	-	1	2	SBNO1	122376816	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	1.591000	0.36665	0.823000	0.34589	0.655000	0.94253	CGG		0.398	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
DNAH10	196385	broad.mit.edu	37	12	124416236	124416236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:124416236G>T	ENST00000409039.3	+	74	12641	c.12616G>T	c.(12616-12618)Gaa>Taa	p.E4206*	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4206					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.E2798*(1)|p.E4206*(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)		AGTGGCCAAAGAAATAGAAAA	0.512																																					p.E4206X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G12616T	12						.						62.0	64.0	63.0					12																	124416236		1899	4117	6016	122982189	SO:0001587	stop_gained	196385	exon74			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.12616G>T	12.37:g.124416236G>T	ENSP00000386770:p.Glu4206*		122982189	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	55	23.501352	0.99955	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9279	0.92552	0.0:0.0:1.0:0.0	.	.	.	.	X	4206	.	ENSP00000386770:E4206X	E	+	1	0	DNAH10	122982189	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.563000	0.86464	0.655000	0.94253	GAA		0.512	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
CDKN1B	1027	broad.mit.edu	37	12	12871797	12871797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:12871797G>T	ENST00000228872.4	+	2	1230	c.514G>T	c.(514-516)Gaa>Taa	p.E172*	CDKN1B_ENST00000396340.1_Intron|CDKN1B_ENST00000477087.1_3'UTR	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	172					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|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 kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)	p.E172*(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGAACAGAAGAAAATGTTTC	0.438																																					p.E172X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G514T	12	GRCh37	CM023042	CDKN1B	M		.						82.0	94.0	90.0					12																	12871797		2203	4300	6503	12763064	SO:0001587	stop_gained	1027	exon2			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.514G>T	12.37:g.12871797G>T	ENSP00000228872:p.Glu172*		12763064	NM_004064	Q16307|Q5U0H2|Q9BUS6	Nonsense_Mutation	SNP	ENST00000228872.4	37	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	44	11.050420	0.99508	.	.	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	16.7715	0.85538	0.0:0.0:1.0:0.0	.	.	.	.	X	172;121;78	.	ENSP00000228872:E172X	E	+	1	0	CDKN1B	12763064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.218000	0.72224	2.384000	0.81235	0.655000	0.94253	GAA		0.438	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	
BRI3BP	140707	broad.mit.edu	37	12	125509608	125509608	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:125509608G>A	ENST00000341446.8	+	3	479	c.388G>A	c.(388-390)Ggc>Agc	p.G130S		NM_080626.5	NP_542193.3			BRI3 binding protein									p.G130S(1)		large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CCTGCTGGTCGGCGTCGTCCT	0.637																																					p.G130S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G388A	12						.						69.0	64.0	66.0					12																	125509608		2203	4300	6503	124075561	SO:0001583	missense	140707	exon3			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.388G>A	12.37:g.125509608G>A	ENSP00000340761:p.Gly130Ser		124075561	NM_080626		Missense_Mutation	SNP	ENST00000341446.8	37	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	31	5.086987	0.94100	.	.	ENSG00000184992	ENST00000341446	.	.	.	5.37	5.37	0.77165	.	0.095910	0.64402	D	0.000001	T	0.71804	0.3383	L	0.48642	1.525	0.58432	D	0.999992	D	0.71674	0.998	P	0.60236	0.871	T	0.70156	-0.4949	9	0.39692	T	0.17	-7.6551	19.1126	0.93323	0.0:0.0:1.0:0.0	.	130	Q8WY22	BRI3B_HUMAN	S	130	.	ENSP00000340761:G130S	G	+	1	0	BRI3BP	124075561	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	9.284000	0.95882	2.495000	0.84180	0.556000	0.70494	GGC		0.637	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2	NM_080626	
RIMBP2	23504	broad.mit.edu	37	12	130890752	130890752	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:130890752C>A	ENST00000261655.4	-	17	3125	c.2962G>T	c.(2962-2964)Gtt>Ttt	p.V988F		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	988	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.V988F(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)		TCACCAAAAACTGTAATAATA	0.259																																					p.V988F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2962T	12						.						56.0	59.0	58.0					12																	130890752		2203	4299	6502	129456705	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.2962G>T	12.37:g.130890752C>A	ENSP00000261655:p.Val988Phe		129456705	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110403	0.77210	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.59906	0.23;0.23	5.26	5.26	0.73747	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.64402	D	0.000001	D	0.82518	0.5054	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86701	0.1929	10	0.87932	D	0	-13.8408	19.2114	0.93757	0.0:1.0:0.0:0.0	.	988	O15034	RIMB2_HUMAN	F	988;125	ENSP00000261655:V988F;ENSP00000439030:V125F	ENSP00000261655:V988F	V	-	1	0	RIMBP2	129456705	1.000000	0.71417	0.406000	0.26421	0.949000	0.60115	5.979000	0.70508	2.616000	0.88540	0.563000	0.77884	GTT		0.259	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
POLE	5426	broad.mit.edu	37	12	133249847	133249847	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:133249847G>A	ENST00000320574.5	-	14	1419	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	POLE_ENST00000535270.1_Missense_Mutation_p.S432F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	459			S -> F (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.S459F(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)	ATCTGACACAGAATACGTGGC	0.527								DNA polymerases (catalytic subunits)																													p.S459F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1376T	12						.						185.0	156.0	166.0					12																	133249847		2203	4300	6503	131759920	SO:0001583	missense	5426	exon14				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.1376C>T	12.37:g.133249847G>A	ENSP00000322570:p.Ser459Phe		131759920	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145562	0.57044	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T	0.44083	4.77;4.77;4.77;0.93	5.37	4.47	0.54385	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82255	-0.0548	10	0.87932	D	0	.	13.4599	0.61221	0.0755:0.0:0.9245:0.0	.	432;459	F5H1D6;Q07864	.;DPOE1_HUMAN	F	459;470;432;239;394;77	ENSP00000322570:S459F;ENSP00000406383:S470F;ENSP00000445753:S432F;ENSP00000442519:S239F	ENSP00000322570:S459F	S	-	2	0	POLE	131759920	1.000000	0.71417	0.176000	0.23000	0.185000	0.23345	7.962000	0.87912	2.524000	0.85096	0.313000	0.20887	TCT		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
WNK1	65125	broad.mit.edu	37	12	936297	936297	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:936297G>A	ENST00000315939.6	+	3	1665	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	WNK1_ENST00000530271.2_Missense_Mutation_p.R341Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R341Q|WNK1_ENST00000447667.2_Missense_Mutation_p.R341Q|WNK1_ENST00000537687.1_Missense_Mutation_p.R341Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	341	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.R341Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCATACTCGAACTCCACCT	0.443																																					p.R341Q	Colon(19;451 567 6672 12618 28860)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	12						.						175.0	169.0	171.0					12																	936297		2203	4300	6503	806558	SO:0001583	missense	65125	exon3			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1022G>A	12.37:g.936297G>A	ENSP00000313059:p.Arg341Gln		806558	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	37	5.990134	0.97179	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000151	T	0.72028	0.3410	L	0.31371	0.925	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	0.74945	-0.3491	10	0.87932	D	0	-9.5701	19.4859	0.95028	0.0:0.0:1.0:0.0	.	341;341;341	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	Q	341	ENSP00000441972:R341Q;ENSP00000313059:R341Q;ENSP00000444465:R341Q;ENSP00000392542:R341Q;ENSP00000433548:R341Q	ENSP00000313059:R341Q	R	+	2	0	WNK1	806558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.617000	0.88574	0.591000	0.81541	CGA		0.443	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
RAD52	5893	broad.mit.edu	37	12	1023246	1023246	+	Missense_Mutation	SNP	C	C	T	rs184776294		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:1023246C>T	ENST00000358495.3	-	11	1147	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	RAD52_ENST00000539046.1_Missense_Mutation_p.D260N|RAD52_ENST00000430095.2_Missense_Mutation_p.D337N|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	337					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.D337N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCCCCTGCATCGGGAGTCACA	0.502								Homologous recombination					C|||	1	0.000199681	0.0	0.0	5008	,	,		18661	0.001		0.0	False		,,,				2504	0.0				p.D337N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1009A	12						.						95.0	89.0	91.0					12																	1023246		1929	4135	6064	893507	SO:0001583	missense	5893	exon11				CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1009G>A	12.37:g.1023246C>T	ENSP00000351284:p.Asp337Asn		893507	NM_134424	Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	CCDS8507.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.13	3.310127	0.60414	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.37915	1.59;1.59;1.17	4.87	2.75	0.32379	.	0.321794	0.36444	N	0.002593	T	0.46034	0.1372	M	0.70275	2.135	0.09310	N	0.999991	D	0.71674	0.998	P	0.56216	0.794	T	0.30297	-0.9983	10	0.46703	T	0.11	-7.3799	6.3712	0.21483	0.0:0.6502:0.0:0.3498	.	337	P43351	RAD52_HUMAN	N	337;337;260	ENSP00000351284:D337N;ENSP00000387901:D337N;ENSP00000445245:D260N	ENSP00000351284:D337N	D	-	1	0	RAD52	893507	0.373000	0.25073	0.010000	0.14722	0.007000	0.05969	1.018000	0.30002	0.582000	0.29556	0.561000	0.74099	GAT		0.502	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424	
AKAP3	10566	broad.mit.edu	37	12	4737263	4737263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:4737263G>A	ENST00000545990.2	-	5	1329	c.805C>T	c.(805-807)Cga>Tga	p.R269*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.R269*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R269*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCCTGCCCTCGAAACCTCTTT	0.438																																					p.R269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C805T	12						.						85.0	79.0	81.0					12																	4737263		2203	4300	6503	4607524	SO:0001587	stop_gained	10566	exon4			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.805C>T	12.37:g.4737263G>A	ENSP00000440994:p.Arg269*		4607524	NM_006422	O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114376	0.94339	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.98	-0.261	0.12963	.	0.521329	0.17868	N	0.159295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3144	1.2545	0.01989	0.2632:0.0947:0.3415:0.3006	.	.	.	.	X	269	.	ENSP00000228850:R269X	R	-	1	2	AKAP3	4607524	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	0.160000	0.16462	0.125000	0.18397	0.655000	0.94253	CGA		0.438	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
VWF	7450	broad.mit.edu	37	12	6105339	6105339	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6105339C>T	ENST00000261405.5	-	35	6146	c.5892G>A	c.(5890-5892)caG>caA	p.Q1964Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1964	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.Q1964Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTTGAAATTCTGCCCATCAA	0.532																																					p.Q1964Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5892A	12						.						51.0	45.0	47.0					12																	6105339		2203	4300	6503	5975600	SO:0001819	synonymous_variant	7450	exon35				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5892G>A	12.37:g.6105339C>T			5975600	NM_000552	Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	CCDS8539.1																																																																																				0.532	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
VWF	7450	broad.mit.edu	37	12	6122676	6122676	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6122676C>T	ENST00000261405.5	-	32	5845	c.5591G>A	c.(5590-5592)gGc>gAc	p.G1864D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1864	VWFA 3; main binding site for collagens type I and III. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.G1864D(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAAGGAATTGCCCAAGGTGAC	0.488																																					p.G1864D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5591A	12						.						96.0	98.0	98.0					12																	6122676		2203	4300	6503	5992937	SO:0001583	missense	7450	exon32				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.5591G>A	12.37:g.6122676C>T	ENSP00000261405:p.Gly1864Asp		5992937	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	3.538	-0.094243	0.07053	.	.	ENSG00000110799	ENST00000261405	T	0.78003	-1.14	5.21	0.213	0.15244	von Willebrand factor, type A (1);	0.819332	0.10551	N	0.661457	T	0.61489	0.2351	L	0.28649	0.875	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.41052	-0.9530	10	0.12430	T	0.62	.	8.274	0.31862	0.0:0.4917:0.0:0.5083	.	1864	P04275	VWF_HUMAN	D	1864	ENSP00000261405:G1864D	ENSP00000261405:G1864D	G	-	2	0	VWF	5992937	0.019000	0.18553	0.006000	0.13384	0.890000	0.51754	0.194000	0.17135	0.132000	0.18615	0.650000	0.86243	GGC		0.488	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
LTBR	4055	broad.mit.edu	37	12	6499319	6499319	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6499319G>A	ENST00000228918.4	+	9	1169	c.843G>A	c.(841-843)ccG>ccA	p.P281P	LTBR_ENST00000539925.1_Silent_p.P262P|LTBR_ENST00000541102.1_Silent_p.P138P	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	281					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.P281P(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GGGAGCCTCCGAAGGCCCATC	0.562																																					p.P281P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G843A	12						.						109.0	109.0	109.0					12																	6499319		2203	4300	6503	6369580	SO:0001819	synonymous_variant	4055	exon9			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.843G>A	12.37:g.6499319G>A			6369580	NM_002342	B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	ENST00000228918.4	37	CCDS8544.1																																																																																				0.562	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1		
NCAPD2	9918	broad.mit.edu	37	12	6626808	6626808	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6626808A>C	ENST00000315579.5	+	12	2166	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	NCAPD2_ENST00000545962.1_Missense_Mutation_p.K411T	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	456	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.K456T(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						GAGACCCAGAAATTACAAGAG	0.473																																					p.K456T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1367C	12						.						83.0	85.0	85.0					12																	6626808		2203	4300	6503	6497069	SO:0001583	missense	9918	exon12			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.1367A>C	12.37:g.6626808A>C	ENSP00000325017:p.Lys456Thr		6497069	NM_014865	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905909	0.92107	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.08634	3.07;3.07;3.07	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.47190	1.495	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.953;0.999	T	0.00380	-1.1776	10	0.46703	T	0.11	-17.931	15.2855	0.73826	1.0:0.0:0.0:0.0	.	411;417;456	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	T	456;328;411;328	ENSP00000325017:K456T;ENSP00000371895:K328T;ENSP00000444417:K411T	ENSP00000325017:K456T	K	+	2	0	NCAPD2	6497069	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.240000	0.89813	2.090000	0.63153	0.459000	0.35465	AAA		0.473	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865	
CHD4	1108	broad.mit.edu	37	12	6707237	6707237	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6707237C>T	ENST00000357008.2	-	12	1878	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R565Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R569Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R572Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	572	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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.R572Q(2)		central_nervous_system(2)	2						CTGATAGTTTCGGAACATCAC	0.463																																					p.R572Q	Colon(32;586 792 4568 16848 45314)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1715A	12						.						131.0	132.0	132.0					12																	6707237		2203	4300	6503	6577498	SO:0001583	missense	1108	exon12			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.1715G>A	12.37:g.6707237C>T	ENSP00000349508:p.Arg572Gln		6577498	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085702	0.94100	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.21	4.21	0.49690	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.88450	2.955	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.998	D;D;D	0.79784	0.993;0.953;0.979	D	0.89481	0.3750	10	0.72032	D	0.01	0.2404	16.7682	0.85529	0.0:1.0:0.0:0.0	.	572;572;565	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	569;565;572;572;546	ENSP00000440392:R569Q;ENSP00000440542:R565Q;ENSP00000312419:R572Q;ENSP00000349508:R572Q	ENSP00000312419:R572Q	R	-	2	0	CHD4	6577498	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	7.625000	0.83145	2.176000	0.68965	0.467000	0.42956	CGA		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
CHD4	1108	broad.mit.edu	37	12	6707445	6707445	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:6707445G>T	ENST00000357008.2	-	11	1792	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	CHD4_ENST00000544040.1_Missense_Mutation_p.F536L|CHD4_ENST00000544484.1_Missense_Mutation_p.F540L|CHD4_ENST00000309577.6_Missense_Mutation_p.F543L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	543	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				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)			central_nervous_system(2)	2						ATTTCACAAAGAACTGCCGCT	0.572																																					p.F543L	Colon(32;586 792 4568 16848 45314)											.	.	0			c.C1629A	12						.						114.0	119.0	117.0					12																	6707445		2203	4300	6503	6577706	SO:0001583	missense	1108	exon11			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.1629C>A	12.37:g.6707445G>T	ENSP00000349508:p.Phe543Leu		6577706	NM_001273	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241454	0.79912	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.87	2.02	0.26589	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	M	0.75447	2.3	0.58432	D	0.999998	D;D;P	0.76494	0.99;0.999;0.954	D;D;D	0.85130	0.979;0.997;0.916	T	0.62709	-0.6797	10	0.52906	T	0.07	49.0538	9.7569	0.40508	0.1599:0.0:0.8401:0.0	.	543;543;536	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	L	540;536;543;543;517	ENSP00000440392:F540L;ENSP00000440542:F536L;ENSP00000312419:F543L;ENSP00000349508:F543L	ENSP00000312419:F543L	F	-	3	2	CHD4	6577706	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.585000	0.74062	0.414000	0.25790	0.313000	0.20887	TTC		0.572	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
C1S	716	broad.mit.edu	37	12	7177456	7177456	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:7177456G>A	ENST00000406697.1	+	15	2196	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	C1S_ENST00000402681.3_Missense_Mutation_p.R356Q|C1S_ENST00000360817.5_Missense_Mutation_p.R523Q|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.R523Q			P09871	C1S_HUMAN	complement component 1, s subcomponent	523	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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.R523Q(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)	CCAGAAGGACGAACCAATTTT	0.527																																					p.R523Q	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1568A	12						.						61.0	60.0	61.0					12																	7177456		2203	4300	6503	7047717	SO:0001583	missense	716	exon12				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.1568G>A	12.37:g.7177456G>A	ENSP00000385035:p.Arg523Gln		7047717	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382949	0.42207	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36519	N	0.002555	T	0.57562	0.2062	N	0.12920	0.275	0.09310	N	1	B	0.29805	0.257	B	0.23150	0.044	T	0.41875	-0.9484	10	0.12766	T	0.61	.	12.198	0.54309	0.0774:0.0:0.9226:0.0	.	523	P09871	C1S_HUMAN	Q	523;523;523;517;356	ENSP00000385035:R523Q;ENSP00000328173:R523Q;ENSP00000354057:R523Q;ENSP00000384171:R356Q	ENSP00000328173:R523Q	R	+	2	0	C1S	7047717	0.026000	0.19158	0.050000	0.19076	0.041000	0.13682	-0.031000	0.12287	2.676000	0.91093	0.561000	0.74099	CGA		0.527	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
CD163	9332	broad.mit.edu	37	12	7637787	7637787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:7637787C>A	ENST00000359156.4	-	11	2886	c.2684G>T	c.(2683-2685)tGt>tTt	p.C895F	CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.C883F|CD163_ENST00000396620.3_Missense_Mutation_p.C928F|CD163_ENST00000432237.2_Missense_Mutation_p.C895F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	895	SRCR 8. {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.C895F(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)	TCCTTTTGGACACTGAACATT	0.552																																					p.C895F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2684T	12						.						119.0	114.0	115.0					12																	7637787		2203	4300	6503	7529054	SO:0001583	missense	9332	exon11			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.2684G>T	12.37:g.7637787C>A	ENSP00000352071:p.Cys895Phe		7529054	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305432	0.40795	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.54	5.54	0.83059	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.49916	D	0.000133	D	0.90051	0.6893	H	0.97415	4	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;0.999	D	0.93052	0.6466	10	0.87932	D	0	.	17.3432	0.87303	0.0:1.0:0.0:0.0	.	928;895;895	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	895;883;928;895	ENSP00000352071:C895F;ENSP00000444071:C883F;ENSP00000379863:C928F;ENSP00000403885:C895F	ENSP00000352071:C895F	C	-	2	0	CD163	7529054	1.000000	0.71417	0.975000	0.42487	0.009000	0.06853	6.475000	0.73582	2.776000	0.95493	0.650000	0.86243	TGT		0.552	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
CLEC4A	50856	broad.mit.edu	37	12	8278246	8278246	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:8278246G>A	ENST00000229332.5	+	2	419	c.172G>A	c.(172-174)Gca>Aca	p.A58T	CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000352620.3_Missense_Mutation_p.A58T|CLEC4A_ENST00000360500.3_Intron	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	58					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.A58T(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CCTGCTATTGGCAATCTCATT	0.413																																					p.A58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	12						.						199.0	160.0	174.0					12																	8278246		2203	4300	6503	8169513	SO:0001583	missense	50856	exon2			AJ133532	CCDS8590.1, CCDS8591.1, CCDS8592.1, CCDS41745.1	12p13	2005-02-09	2005-02-09	2005-02-09	ENSG00000111729	ENSG00000111729		"""C-type lectin domain containing"""	13257	protein-coding gene	gene with protein product		605306	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6"""	CLECSF6		10438934	Standard	NM_016184		Approved	DCIR, DDB27	uc001qtz.1	Q9UMR7	OTTHUMG00000168571	ENST00000229332.5:c.172G>A	12.37:g.8278246G>A	ENSP00000229332:p.Ala58Thr		8169513	NM_194450	Q17R69|Q8WXW9|Q9H2Z9|Q9NS33|Q9UI34	Missense_Mutation	SNP	ENST00000229332.5	37	CCDS8590.1	.	.	.	.	.	.	.	.	.	.	G	8.005	0.756259	0.15846	.	.	ENSG00000111729	ENST00000229332;ENST00000352620;ENST00000546339	T;T;T	0.58210	5.34;2.29;0.35	3.89	-0.0773	0.13719	.	.	.	.	.	T	0.31009	0.0783	L	0.33485	1.01	0.19945	N	0.99994	B;B	0.29805	0.016;0.257	B;B	0.26614	0.018;0.071	T	0.25117	-1.0141	9	0.05620	T	0.96	.	6.4161	0.21717	0.4457:0.0:0.5543:0.0	.	58;58	Q9UMR7-2;Q9UMR7	.;CLC4A_HUMAN	T	58;58;47	ENSP00000229332:A58T;ENSP00000247243:A58T;ENSP00000443082:A47T	ENSP00000229332:A58T	A	+	1	0	CLEC4A	8169513	0.023000	0.18921	0.189000	0.23252	0.706000	0.40770	-0.027000	0.12371	-0.016000	0.14127	0.655000	0.94253	GCA		0.413	CLEC4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400257.1	NM_194450	
FAM90A1	55138	broad.mit.edu	37	12	8374495	8374495	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:8374495G>A	ENST00000538603.1	-	7	1876	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	RP11-266K4.1_ENST00000542600.1_RNA|FAM90A1_ENST00000307435.6_Missense_Mutation_p.R440C	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	440							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R440C(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGTGGGACACGAACACAGGGA	0.602																																					p.R440C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1318T	12						.						36.0	48.0	43.0					12																	8374495		1701	3195	4896	8265762	SO:0001583	missense	55138	exon7			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1318C>T	12.37:g.8374495G>A	ENSP00000445418:p.Arg440Cys		8265762	NM_018088	D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	5.039	0.192941	0.09599	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15372	2.43;2.43	1.06	-0.159	0.13379	.	.	.	.	.	T	0.06142	0.0159	N	0.02802	-0.49	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.33085	-0.9882	9	0.54805	T	0.06	0.1514	3.8781	0.09066	0.0:0.0:0.5819:0.4181	.	440	Q86YD7	F90A1_HUMAN	C	440	ENSP00000307798:R440C;ENSP00000445418:R440C	ENSP00000307798:R440C	R	-	1	0	FAM90A1	8265762	0.002000	0.14202	0.000000	0.03702	0.009000	0.06853	-0.631000	0.05496	-0.054000	0.13266	0.205000	0.17691	CGT		0.602	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088	
AICDA	57379	broad.mit.edu	37	12	8757906	8757906	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:8757906G>A	ENST00000229335.6	-	3	435	c.332C>T	c.(331-333)gCg>gTg	p.A111V	AICDA_ENST00000537228.1_Missense_Mutation_p.A111V	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	111	Required for interaction with RNF126. {ECO:0000269|PubMed:23277564}.				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.A111V(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)					GTAGAGGCGCGCGGTGAAGAT	0.637																																					p.A111V	GBM(62;896 1067 5527 26594 30137)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332T	12	GRCh37	CM064963	AICDA	M		.						31.0	34.0	33.0					12																	8757906		1987	4158	6145	8649173	SO:0001583	missense	57379	exon3			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.332C>T	12.37:g.8757906G>A	ENSP00000229335:p.Ala111Val		8649173	NM_020661	Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.712088|5.712088	0.96830|0.96830	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000229335;ENST00000537228|ENST00000543081;ENST00000545512	T;T|.	0.67171|.	-0.25;-0.25|.	5.45|5.45	5.45|5.45	0.79879|0.79879	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);|.	0.049216|.	0.85682|.	D|.	0.000000|.	T|T	0.77605|0.77605	0.4155|0.4155	M|M	0.79258|0.79258	2.445|2.445	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.61080|.	0.989;0.989;0.989|.	P;P;P|.	0.56751|.	0.751;0.805;0.805|.	T|T	0.78026|0.78026	-0.2365|-0.2365	10|5	0.87932|.	D|.	0|.	-18.2239|-18.2239	17.8461|17.8461	0.88730|0.88730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111;111;111|.	Q9GZX7;Q6QJ80;Q6QJ81|.	AICDA_HUMAN;.;.|.	V|C	111|110	ENSP00000229335:A111V;ENSP00000445691:A111V|.	ENSP00000229335:A111V|.	A|R	-|-	2|1	0|0	AICDA|AICDA	8649173|8649173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.186000|9.186000	0.94906|0.94906	2.554000|2.554000	0.86153|0.86153	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.637	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
CD69	969	broad.mit.edu	37	12	9908983	9908983	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:9908983G>T	ENST00000228434.3	-	2	177	c.97C>A	c.(97-99)Cat>Aat	p.H33N	CD69_ENST00000536709.1_Missense_Mutation_p.H33N	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	33					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.H33N(1)		endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						GACCCTTCATGACGTGTTGAG	0.438																																					p.H33N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C97A	12						.						161.0	140.0	147.0					12																	9908983		2203	4300	6503	9800250	SO:0001583	missense	969	exon2			Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.97C>A	12.37:g.9908983G>T	ENSP00000228434:p.His33Asn		9800250	NM_001781		Missense_Mutation	SNP	ENST00000228434.3	37	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	G	8.775	0.926945	0.18056	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.01560	5.1;4.77	4.43	3.53	0.40419	.	0.948337	0.08779	N	0.895082	T	0.02929	0.0087	L	0.50333	1.59	0.09310	N	1	B;B	0.26708	0.157;0.079	B;B	0.34301	0.179;0.032	T	0.41233	-0.9520	9	.	.	.	-1.698	7.6019	0.28081	0.1129:0.0:0.8871:0.0	.	33;33	B4E0H7;Q07108	.;CD69_HUMAN	N	33	ENSP00000228434:H33N;ENSP00000442597:H33N	.	H	-	1	0	CD69	9800250	0.005000	0.15991	0.053000	0.19242	0.004000	0.04260	1.556000	0.36288	2.462000	0.83206	0.655000	0.94253	CAT		0.438	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1		
GUCY2C	2984	broad.mit.edu	37	12	14778806	14778806	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:14778806T>G	ENST00000261170.3	-	21	2429	c.2293A>C	c.(2293-2295)Atc>Ctc	p.I765L		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	765					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.I765L(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AGACGTCGGATCAAGGTATCC	0.388																																					p.I765L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2293C	12						.						146.0	134.0	138.0					12																	14778806		2203	4300	6503	14670073	SO:0001583	missense	2984	exon21				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2293A>C	12.37:g.14778806T>G	ENSP00000261170:p.Ile765Leu		14670073	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.351032	0.41599	.	.	ENSG00000070019	ENST00000261170	T	0.61392	0.11	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.045766	0.85682	D	0.000000	T	0.41903	0.1179	N	0.25825	0.765	0.80722	D	1	P	0.36990	0.577	B	0.37091	0.241	T	0.39800	-0.9596	10	0.02654	T	1	.	15.5703	0.76330	0.0:0.0:0.0:1.0	.	765	P25092	GUC2C_HUMAN	L	765	ENSP00000261170:I765L	ENSP00000261170:I765L	I	-	1	0	GUCY2C	14670073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.943000	0.87716	2.138000	0.66242	0.460000	0.39030	ATC		0.388	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
ART4	420	broad.mit.edu	37	12	14993959	14993959	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:14993959C>A	ENST00000228936.4	-	2	654	c.273G>T	c.(271-273)aaG>aaT	p.K91N	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	91					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.K91N(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TAAAATAATTCTTCTGGGCTT	0.423																																					p.K91N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G273T	12						.						121.0	118.0	119.0					12																	14993959		2203	4300	6503	14885226	SO:0001583	missense	420	exon2			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.273G>T	12.37:g.14993959C>A	ENSP00000228936:p.Lys91Asn		14885226	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315457	0.23908	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.09538	2.97;2.97	4.35	-1.91	0.07641	.	0.792671	0.12321	N	0.479297	T	0.22704	0.0548	M	0.74881	2.28	0.09310	N	1	D;D	0.60575	0.988;0.988	P;P	0.60886	0.88;0.88	T	0.07366	-1.0776	10	0.87932	D	0	-11.297	5.9255	0.19110	0.0:0.4653:0.1287:0.406	.	91;91	A8K6J7;Q93070	.;NAR4_HUMAN	N	91;74	ENSP00000228936:K91N;ENSP00000405689:K74N	ENSP00000228936:K91N	K	-	3	2	ART4	14885226	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.940000	0.03929	-0.372000	0.07992	0.563000	0.77884	AAG		0.423	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
GYS2	2998	broad.mit.edu	37	12	21733292	21733292	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:21733292T>A	ENST00000261195.2	-	2	541	c.287A>T	c.(286-288)aAt>aTt	p.N96I		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	96					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.N96I(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						GCCATGCTTATTCATTGCGTC	0.398																																					p.N96I	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287T	12						.						205.0	185.0	192.0					12																	21733292		2203	4300	6503	21624559	SO:0001583	missense	2998	exon2				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.287A>T	12.37:g.21733292T>A	ENSP00000261195:p.Asn96Ile		21624559	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847413	0.32606	.	.	ENSG00000111713	ENST00000261195	T	0.64438	-0.1	5.16	4.01	0.46588	.	0.230543	0.42682	D	0.000674	T	0.48095	0.1481	L	0.29908	0.895	0.26533	N	0.974223	B	0.06786	0.001	B	0.15484	0.013	T	0.46693	-0.9173	10	0.66056	D	0.02	-30.4523	8.8592	0.35247	0.0:0.1511:0.0:0.8489	.	96	P54840	GYS2_HUMAN	I	96	ENSP00000261195:N96I	ENSP00000261195:N96I	N	-	2	0	GYS2	21624559	0.927000	0.31430	0.991000	0.47740	0.917000	0.54804	1.512000	0.35812	0.981000	0.38548	0.460000	0.39030	AAT		0.398	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
CASC1	55259	broad.mit.edu	37	12	25276189	25276189	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:25276189T>G	ENST00000320267.9	-	9	1097	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	CASC1_ENST00000545133.1_Missense_Mutation_p.K280T|CASC1_ENST00000395990.2_Missense_Mutation_p.K299T|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.K227T|CASC1_ENST00000395987.3_Missense_Mutation_p.K345T|CASC1_ENST00000354189.5_Missense_Mutation_p.K403T	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	339								p.K345T(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCGTTCACATTTTATGGCTTC	0.323																																					p.K403T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1208C	12						.						82.0	74.0	76.0					12																	25276189		2201	4297	6498	25167456	SO:0001583	missense	55259	exon10			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1016A>C	12.37:g.25276189T>G	ENSP00000313141:p.Lys339Thr		25167456	NM_001082972	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.761|9.761	1.170051|1.170051	0.21621|0.21621	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.49432	.|0.78;1.39;1.39;0.8;0.8	3.66|3.66	2.51|2.51	0.30379|0.30379	.|Casc1 domain (1);	0.458477|0.458477	0.21625|0.21625	N|N	0.071562|0.071562	T|T	0.47414|0.47414	0.1444|0.1444	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P;D;P;P	.|0.56521	.|0.763;0.873;0.976;0.801;0.763	.|P;P;P;B;B	.|0.54140	.|0.463;0.544;0.743;0.355;0.242	T|T	0.25572|0.25572	-1.0128|-1.0128	6|10	.|0.31617	.|T	.|0.26	-19.4064|-19.4064	5.7558|5.7558	0.18172|0.18172	0.0:0.1216:0.0:0.8784|0.0:0.1216:0.0:0.8784	.|.	.|227;280;403;339;345	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	N|T	175|403;345;339;299;227;345;280;149	.|ENSP00000346126:K403T;ENSP00000379310:K345T;ENSP00000313141:K339T;ENSP00000379313:K299T;ENSP00000437373:K280T	.|ENSP00000313141:K339T	K|K	-|-	3|2	2|0	CASC1|CASC1	25167456|25167456	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.076000|0.076000	0.17211|0.17211	0.779000|0.779000	0.26746|0.26746	0.770000|0.770000	0.33336|0.33336	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.323	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
KRAS	3845	broad.mit.edu	37	12	25378706	25378706	+	Splice_Site	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:25378706C>A	ENST00000256078.4	-	4	355	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Splice_Site_p.E98*	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	98					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.E98*(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TTAATTTGTTCTCTGGGAAAG	0.338		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.E98X	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	12						.						67.0	68.0	68.0					12																	25378706		2202	4299	6501	25269973	SO:0001630	splice_region_variant	3845	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.291-1G>T	12.37:g.25378706C>A			25269973	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Nonsense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365235	0.95877	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000256078:E98X	E	-	1	0	KRAS	25269973	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.763000	0.85283	2.833000	0.97629	0.585000	0.79938	GAA		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	Nonsense_Mutation
RASSF8	11228	broad.mit.edu	37	12	26208285	26208285	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:26208285T>C	ENST00000405154.2	+	2	208	c.9T>C	c.(7-9)ctT>ctC	p.L3L	RASSF8_ENST00000381352.3_Silent_p.L3L|RASSF8_ENST00000541490.1_Silent_p.L3L|RASSF8_ENST00000282884.9_Silent_p.L3L|RASSF8_ENST00000542865.1_Silent_p.L3L	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	3	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				signal transduction (GO:0007165)			p.L3L(1)		cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CCATGGAACTTAAAGTATGGG	0.502																																					p.L3L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9C	12						.						190.0	156.0	167.0					12																	26208285		2203	4300	6503	26099552	SO:0001819	synonymous_variant	11228	exon3			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.9T>C	12.37:g.26208285T>C			26099552	NM_007211	A8K1Z0|O95647|Q5SCI2|Q76KB6	Silent	SNP	ENST00000405154.2	37	CCDS53765.1																																																																																				0.502	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402209.2	NM_007211	
ITPR2	3709	broad.mit.edu	37	12	26811002	26811002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:26811002C>A	ENST00000381340.3	-	17	2364	c.1948G>T	c.(1948-1950)Gaa>Taa	p.E650*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	650					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.E650*(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)	CAGATGAGTTCTTGAGTTACA	0.343																																					p.E650X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1948T	12						.						105.0	98.0	100.0					12																	26811002		1856	4099	5955	26702269	SO:0001587	stop_gained	3709	exon17			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.1948G>T	12.37:g.26811002C>A	ENSP00000370744:p.Glu650*		26702269	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	44	11.020178	0.99503	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.071	0.89407	0.0:1.0:0.0:0.0	.	.	.	.	X	650	.	ENSP00000370744:E650X	E	-	1	0	ITPR2	26702269	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.495000	0.84180	0.655000	0.94253	GAA		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
TMTC1	83857	broad.mit.edu	37	12	29908642	29908642	+	Splice_Site	SNP	G	G	A	rs143546206		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:29908642G>A	ENST00000539277.1	-	4	789	c.731C>T	c.(730-732)tCg>tTg	p.S244L	TMTC1_ENST00000256062.5_Splice_Site_p.S136L|TMTC1_ENST00000551659.1_Splice_Site_p.S244L|TMTC1_ENST00000381224.2_Splice_Site_p.S136L|TMTC1_ENST00000552618.1_Splice_Site_p.S244L	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	244						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S136L(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)					AATGACTTACGACTTGTCTTG	0.388																																					p.S244L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C731T	12						.	G	LEU/SER,LEU/SER	0,4406		0,0,2203	92.0	83.0	86.0		731,407	1.2	0.9	12	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	TMTC1	NM_001193451.1,NM_175861.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	244/883,136/775	29908642	1,13005	2203	4300	6503	29799909	SO:0001630	splice_region_variant	83857	exon4				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.731+1C>T	12.37:g.29908642G>A			29799909	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	8.136	0.784167	0.16189	0.0	1.16E-4	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.67345	-0.26;-0.04;-0.26;-0.12;1.55	5.28	1.17	0.20885	.	0.995128	0.08157	N	0.989167	T	0.34600	0.0903	N	0.02539	-0.55	0.25516	N	0.987412	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.25745	-1.0123	9	.	.	.	-0.3302	3.6345	0.08143	0.3721:0.1867:0.4411:0.0	.	136;244	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	L	136;244;244;244;136	ENSP00000256062:S136L;ENSP00000448112:S244L;ENSP00000449043:S244L;ENSP00000442046:S244L;ENSP00000370622:S136L	.	S	-	2	0	TMTC1	29799909	0.693000	0.27728	0.924000	0.36721	0.903000	0.53119	0.239000	0.18023	0.699000	0.31761	0.655000	0.94253	TCG		0.388	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	Missense_Mutation
CAPRIN2	65981	broad.mit.edu	37	12	30866734	30866734	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:30866734T>G	ENST00000395805.2	-	15	3115	c.2568A>C	c.(2566-2568)gcA>gcC	p.A856A	CAPRIN2_ENST00000417045.1_Silent_p.A911A|CAPRIN2_ENST00000298892.5_Silent_p.A862A|CAPRIN2_ENST00000308433.5_Silent_p.A578A|CAPRIN2_ENST00000251071.5_Silent_p.A912A	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGGAATAAGGTGCTCCAGAAT	0.363																																					p.A912A												.	.	0			c.A2736C	12						.						102.0	105.0	104.0					12																	30866734		2203	4300	6503	30758001	SO:0001819	synonymous_variant	65981	exon16			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2568A>C	12.37:g.30866734T>G			30758001	NM_001002259		Silent	SNP	ENST00000395805.2	37	CCDS55816.1																																																																																				0.363	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
DDX11	1663	broad.mit.edu	37	12	31244665	31244665	+	Missense_Mutation	SNP	C	C	T	rs201612562	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:31244665C>T	ENST00000407793.2	+	10	1353	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DDX11_ENST00000542838.1_Missense_Mutation_p.P368S|DDX11_ENST00000350437.4_Missense_Mutation_p.P368S|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.P342S|DDX11_ENST00000545668.1_Missense_Mutation_p.P368S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	368	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTGGTGCTGCCCTATCAGAT	0.662										Multiple Myeloma(12;0.14)			C|||	112	0.0223642	0.0189	0.0173	5008	,	,		18386	0.0337		0.0139	False		,,,				2504	0.0276				p.P368S												.	.	0			c.C1102T	12						.						12.0	13.0	13.0					12																	31244665		2159	4229	6388	31135932	SO:0001583	missense	1663	exon10			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1102C>T	12.37:g.31244665C>T	ENSP00000384703:p.Pro368Ser		31135932	NM_004399	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966413	0.74131	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.114571	0.64402	D	0.000009	T	0.66528	0.2798	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.985;0.997;0.984;0.99	T	0.75260	-0.3380	10	0.72032	D	0.01	.	11.6158	0.51090	0.0:1.0:0.0:0.0	.	93;342;368;368;368	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	S	368;368;93;342;368;368	ENSP00000443426:P368S;ENSP00000384703:P368S;ENSP00000228264:P342S;ENSP00000440402:P368S;ENSP00000309965:P368S	ENSP00000228264:P342S	P	+	1	0	DDX11	31135932	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.995000	0.76257	1.535000	0.49220	0.505000	0.49811	CCC		0.662	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
DENND5B	160518	broad.mit.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:31540716G>A	ENST00000389082.5	-	21	3910	c.3646C>T	c.(3646-3648)Cgc>Tgc	p.R1216C	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251C|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251C	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				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.R1216C(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						GGGAGCAGGCGATCCCTACAG	0.527																																					p.R1216C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3646T	12						.						74.0	69.0	70.0					12																	31540716		2032	4185	6217	31431983	SO:0001583	missense	160518	exon21			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.3646C>T	12.37:g.31540716G>A	ENSP00000373734:p.Arg1216Cys		31431983	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135511	0.94517	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.32023	1.47;1.47;1.47	5.29	5.29	0.74685	RUN (3);	0.304535	0.31821	N	0.007005	T	0.45216	0.1331	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;P	0.58820	0.846;0.761	T	0.37641	-0.9697	10	0.87932	D	0	-19.5091	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1216;1251	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	C	1216;1251;1251	ENSP00000373734:R1216C;ENSP00000306482:R1251C;ENSP00000444889:R1251C	ENSP00000306482:R1251C	R	-	1	0	DENND5B	31431983	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.502000	0.81614	2.761000	0.94854	0.655000	0.94253	CGC		0.527	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
DNM1L	10059	broad.mit.edu	37	12	32866233	32866233	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:32866233G>A	ENST00000549701.1	+	6	621	c.547G>A	c.(547-549)Gct>Act	p.A183T	DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000381000.4_Missense_Mutation_p.A196T|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.A183T|DNM1L_ENST00000553257.1_Missense_Mutation_p.A196T|DNM1L_ENST00000358214.5_Missense_Mutation_p.A196T|DNM1L_ENST00000452533.2_Missense_Mutation_p.A183T|DNM1L_ENST00000266481.6_Missense_Mutation_p.A183T			O00429	DNM1L_HUMAN	dynamin 1-like	183	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.A183T(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CATTATCCTCGCTGTCACTGC	0.393																																					p.A183T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	12						.						126.0	120.0	122.0					12																	32866233		2203	4300	6503	32757500	SO:0001583	missense	10059	exon6			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.547G>A	12.37:g.32866233G>A	ENSP00000450399:p.Ala183Thr		32757500	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597992	0.96602	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000551476;ENST00000550154;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.3	5.21	5.21	0.72293	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98257	0.9423	M	0.91818	3.245	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	0.83275	0.993;0.995;0.986;0.989;0.996	D	0.99349	1.0914	10	0.87932	D	0	.	18.764	0.91865	0.0:0.0:1.0:0.0	.	236;236;249;236;183	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	T	183;249;183;196;183;196;183;166;159;183;196;154	ENSP00000415131:A183T;ENSP00000449089:A196T;ENSP00000450399:A183T;ENSP00000350948:A196T;ENSP00000266481:A183T;ENSP00000447845:A166T;ENSP00000447013:A159T;ENSP00000448610:A183T;ENSP00000370388:A196T;ENSP00000447788:A154T	ENSP00000266479:A183T	A	+	1	0	DNM1L	32757500	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	7.727000	0.84838	2.442000	0.82660	0.585000	0.79938	GCT		0.393	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
SYT10	341359	broad.mit.edu	37	12	33532815	33532815	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:33532815C>T	ENST00000228567.3	-	6	1748	c.1452G>A	c.(1450-1452)atG>atA	p.M484I	SYT10_ENST00000535526.1_Missense_Mutation_p.M303I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	484					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.M484I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GATAGGCCAGCATTTCATTCC	0.468																																					p.M484I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1452A	12						.						250.0	208.0	222.0					12																	33532815		2203	4300	6503	33424082	SO:0001583	missense	341359	exon6			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1452G>A	12.37:g.33532815C>T	ENSP00000228567:p.Met484Ile		33424082	NM_198992	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208988	0.79240	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.72051	-0.62;-0.62	4.3	4.3	0.51218	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.50627	U	0.000120	T	0.75236	0.3822	M	0.74467	2.265	0.80722	D	1	P	0.40250	0.709	B	0.43990	0.438	T	0.78398	-0.2219	10	0.49607	T	0.09	.	17.0422	0.86492	0.0:1.0:0.0:0.0	.	484	Q6XYQ8	SYT10_HUMAN	I	484;303	ENSP00000228567:M484I;ENSP00000438691:M303I	ENSP00000228567:M484I	M	-	3	0	SYT10	33424082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.679000	0.91253	0.650000	0.86243	ATG		0.468	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
KIF21A	55605	broad.mit.edu	37	12	39726135	39726135	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:39726135C>T	ENST00000361418.5	-	21	2947	c.2932G>A	c.(2932-2934)Gga>Aga	p.G978R	KIF21A_ENST00000361961.3_Missense_Mutation_p.G965R|KIF21A_ENST00000541463.2_Missense_Mutation_p.G942R|KIF21A_ENST00000395670.3_Missense_Mutation_p.G978R|KIF21A_ENST00000544797.2_Missense_Mutation_p.G965R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	978					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.G965R(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)				TTTTTATCTCCCTCTCCATTC	0.383																																					p.G942R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2824A	12						.						227.0	208.0	214.0					12																	39726135		2203	4300	6503	38012402	SO:0001583	missense	55605	exon19			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.2932G>A	12.37:g.39726135C>T	ENSP00000354878:p.Gly978Arg		38012402	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787823	0.49997	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.69040	-0.37;-0.33;0.42;-0.37;-0.28;-0.34	5.67	4.59	0.56863	.	0.296088	0.23951	N	0.042949	T	0.61324	0.2338	L	0.43152	1.355	0.34136	D	0.665783	P;P;B;B;B	0.42203	0.573;0.773;0.136;0.145;0.404	B;B;B;B;B	0.43274	0.219;0.414;0.091;0.146;0.268	T	0.66650	-0.5870	10	0.20046	T	0.44	.	15.5118	0.75789	0.0:0.9228:0.0:0.0772	.	965;942;978;965;978	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	R	965;978;978;32;26;965;978;942	ENSP00000354851:G965R;ENSP00000379029:G978R;ENSP00000448792:G26R;ENSP00000445606:G965R;ENSP00000354878:G978R;ENSP00000438075:G942R	ENSP00000344501:G978R	G	-	1	0	KIF21A	38012402	0.895000	0.30542	1.000000	0.80357	0.984000	0.73092	3.187000	0.50950	2.663000	0.90544	0.557000	0.71058	GGA		0.383	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	broad.mit.edu	37	12	39997797	39997797	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:39997797C>A	ENST00000308666.3	-	5	1552	c.1417G>T	c.(1417-1419)Gat>Tat	p.D473Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	473					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.D473Y(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						TGATCCACATCAATAACTTTT	0.318																																					p.D473Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417T	12						.						87.0	89.0	89.0					12																	39997797		2203	4300	6503	38284064	SO:0001583	missense	225	exon5			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.1417G>T	12.37:g.39997797C>A	ENSP00000310688:p.Asp473Tyr		38284064	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974305	0.34848	.	.	ENSG00000173208	ENST00000308666	D	0.94966	-3.57	5.08	5.08	0.68730	.	0.124068	0.52532	D	0.000065	D	0.90369	0.6986	L	0.31065	0.9	0.51482	D	0.999922	B	0.24533	0.105	B	0.19391	0.025	D	0.86846	0.2020	9	.	.	.	-14.2665	18.4742	0.90786	0.0:1.0:0.0:0.0	.	473	Q9UBJ2	ABCD2_HUMAN	Y	473	ENSP00000310688:D473Y	.	D	-	1	0	ABCD2	38284064	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.373000	0.59537	2.376000	0.81061	0.563000	0.77884	GAT		0.318	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
CNTN1	1272	broad.mit.edu	37	12	41327666	41327666	+	Missense_Mutation	SNP	G	G	T	rs148624625	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:41327666G>T	ENST00000551295.2	+	9	1088	c.971G>T	c.(970-972)aGa>aTa	p.R324I	CNTN1_ENST00000547849.1_Missense_Mutation_p.R324I|CNTN1_ENST00000360099.3_Missense_Mutation_p.R324I|CNTN1_ENST00000348761.2_Missense_Mutation_p.R313I|CNTN1_ENST00000547702.1_Missense_Mutation_p.R324I|CNTN1_ENST00000347616.1_Missense_Mutation_p.R324I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	324	Ig-like C2-type 3.				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.R324I(1)|p.R324K(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)				CATCAAGCAAGAATTTATGTT	0.308																																					p.R313I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G938T	12						.						65.0	67.0	66.0					12																	41327666		2203	4299	6502	39613933	SO:0001583	missense	1272	exon8			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.971G>T	12.37:g.41327666G>T	ENSP00000447006:p.Arg324Ile		39613933	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920659	0.33908	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.11	3.2	0.36748	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.483471	0.23706	N	0.045375	T	0.64182	0.2575	M	0.68317	2.08	0.50171	D	0.999851	B;P;P	0.43431	0.293;0.769;0.807	B;B;P	0.45428	0.071;0.349;0.48	T	0.57883	-0.7734	10	0.24483	T	0.36	.	7.7108	0.28677	0.3409:0.0:0.6591:0.0	.	324;313;324	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	I	324;324;324;324;324;313	ENSP00000448004:R324I;ENSP00000447006:R324I;ENSP00000448653:R324I;ENSP00000325660:R324I;ENSP00000353213:R324I;ENSP00000261160:R313I	ENSP00000325660:R324I	R	+	2	0	CNTN1	39613933	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.410000	0.34691	0.619000	0.30197	0.561000	0.74099	AGA		0.308	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
CNTN1	1272	broad.mit.edu	37	12	41337967	41337967	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:41337967T>G	ENST00000551295.2	+	14	1795	c.1678T>G	c.(1678-1680)Ttt>Gtt	p.F560V	CNTN1_ENST00000547849.1_Missense_Mutation_p.F560V|CNTN1_ENST00000360099.3_Missense_Mutation_p.F560V|CNTN1_ENST00000348761.2_Missense_Mutation_p.F549V|CNTN1_ENST00000547702.1_Missense_Mutation_p.F560V|CNTN1_ENST00000347616.1_Missense_Mutation_p.F560V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	560	Ig-like C2-type 6.				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.F560V(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)				CCAGAGGAATTTTATGGTATG	0.348																																					p.F549V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1645G	12						.						78.0	71.0	73.0					12																	41337967		2203	4299	6502	39624234	SO:0001583	missense	1272	exon13			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.1678T>G	12.37:g.41337967T>G	ENSP00000447006:p.Phe560Val		39624234	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	T	7.468	0.646011	0.14451	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.428353	0.26948	N	0.021699	T	0.09423	0.0232	N	0.03000	-0.44	0.29200	N	0.875302	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.14699	-1.0463	10	0.21540	T	0.41	.	6.2236	0.20695	0.1491:0.0:0.1783:0.6726	.	560;549;560	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	560;560;560;560;560;549	ENSP00000448004:F560V;ENSP00000447006:F560V;ENSP00000448653:F560V;ENSP00000325660:F560V;ENSP00000353213:F560V;ENSP00000261160:F549V	ENSP00000325660:F560V	F	+	1	0	CNTN1	39624234	0.878000	0.30173	0.999000	0.59377	0.977000	0.68977	1.436000	0.34980	2.239000	0.73571	0.496000	0.49642	TTT		0.348	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
ADAMTS20	80070	broad.mit.edu	37	12	43825186	43825186	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:43825186A>G	ENST00000389420.3	-	22	3209	c.3210T>C	c.(3208-3210)agT>agC	p.S1070S	ADAMTS20_ENST00000395541.2_Silent_p.S224S|ADAMTS20_ENST00000553158.1_Silent_p.S1070S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1070	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1070S(1)|p.C1070C(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)		GTTCACATGGACTCAGAGATT	0.418																																					p.S1070S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T3210C	12						.						148.0	130.0	136.0					12																	43825186		2203	4300	6503	42111453	SO:0001819	synonymous_variant	80070	exon22			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.3210T>C	12.37:g.43825186A>G			42111453	NM_025003	A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	CCDS31778.2																																																																																				0.418	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
ADAMTS20	80070	broad.mit.edu	37	12	43833725	43833725	+	Missense_Mutation	SNP	C	C	T	rs142203536		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:43833725C>T	ENST00000389420.3	-	17	2437	c.2438G>A	c.(2437-2439)cGa>cAa	p.R813Q	ADAMTS20_ENST00000395541.2_5'Flank|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R813Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	813	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.R813Q(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)		TTTCTCTTGTCGATTAGTACT	0.299													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16115	0.0		0.0	False		,,,				2504	0.0				p.R813Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2438A	12						.	C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	94.0	87.0	89.0		2438	5.4	0.9	12	dbSNP_134	89	0,8594		0,0,4297	no	missense	ADAMTS20	NM_025003.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	813/1911	43833725	1,12995	2201	4297	6498	42119992	SO:0001583	missense	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.2438G>A	12.37:g.43833725C>T	ENSP00000374071:p.Arg813Gln		42119992	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357829	0.82243	2.27E-4	0.0	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.51574	0.7;0.7	5.44	5.44	0.79542	ADAM-TS Spacer 1 (1);	0.000000	0.44688	D	0.000423	T	0.65059	0.2655	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.67548	0.952	T	0.59139	-0.7510	10	0.28530	T	0.3	.	15.3321	0.74223	0.0:0.9302:0.0:0.0698	.	813	P59510	ATS20_HUMAN	Q	813	ENSP00000374071:R813Q;ENSP00000448341:R813Q	ENSP00000374068:R813Q	R	-	2	0	ADAMTS20	42119992	0.998000	0.40836	0.944000	0.38274	0.951000	0.60555	3.749000	0.55150	2.937000	0.99478	0.650000	0.86243	CGA		0.299	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
PUS7L	83448	broad.mit.edu	37	12	44148553	44148553	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:44148553T>G	ENST00000416848.2	-	2	984	c.496A>C	c.(496-498)Atc>Ctc	p.I166L	PUS7L_ENST00000344862.5_Missense_Mutation_p.I166L|PUS7L_ENST00000551923.1_Missense_Mutation_p.I166L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.I166L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	166					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.I166L(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)		TTGTCAAGGATTCTGCCTATT	0.368																																					p.I166L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A496C	12						.						111.0	110.0	110.0					12																	44148553		2203	4300	6503	42434820	SO:0001583	missense	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.496A>C	12.37:g.44148553T>G	ENSP00000415899:p.Ile166Leu		42434820	NM_001098615	B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222270	0.39300	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24151	1.96;1.96;1.96;1.87	5.26	4.08	0.47627	Pseudouridine synthase, catalytic domain (1);	0.220196	0.46758	D	0.000280	T	0.21267	0.0512	M	0.63428	1.95	0.22719	N	0.998813	P	0.35844	0.524	B	0.28849	0.095	T	0.23833	-1.0177	10	0.48119	T	0.1	-4.7458	5.9722	0.19359	0.2547:0.0709:0.0:0.6744	.	166	Q9H0K6	PUS7L_HUMAN	L	166	ENSP00000415899:I166L;ENSP00000343081:I166L;ENSP00000447706:I166L;ENSP00000446865:I166L	ENSP00000343081:I166L	I	-	1	0	PUS7L	42434820	0.585000	0.26774	0.703000	0.30354	0.969000	0.65631	0.643000	0.24750	1.051000	0.40369	0.482000	0.46254	ATC		0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292	
SLC38A4	55089	broad.mit.edu	37	12	47162096	47162096	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:47162096G>A	ENST00000447411.1	-	15	1745	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	SLC38A4_ENST00000266579.4_Silent_p.V513V	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	513					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.V513V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TACTTACCCCGACCTTTTGGG	0.353																																					p.V513V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1539T	12						.						37.0	40.0	39.0					12																	47162096		2203	4300	6503	45448363	SO:0001819	synonymous_variant	55089	exon16			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1539C>T	12.37:g.47162096G>A			45448363	NM_018018	A8K553	Silent	SNP	ENST00000447411.1	37	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198183	0.22037	.	.	ENSG00000139209	ENST00000550670	.	.	.	5.63	-2.35	0.06684	.	.	.	.	.	T	0.51907	0.1702	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47471	-0.9115	4	.	.	.	-5.0462	7.9952	0.30265	0.6227:0.1157:0.2616:0.0	.	.	.	.	L	39	.	.	S	-	2	0	SLC38A4	45448363	0.298000	0.24417	0.692000	0.30179	0.985000	0.73830	-0.294000	0.08309	-0.282000	0.09128	0.655000	0.94253	TCG		0.353	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
C12orf54	121273	broad.mit.edu	37	12	48888618	48888618	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:48888618T>G	ENST00000548364.1	+	7	337	c.280T>G	c.(280-282)Ttg>Gtg	p.L94V	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000314014.2_Missense_Mutation_p.L94V			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	94								p.L94V(1)		endometrium(1)|large_intestine(4)	5						GACCCCAAAGTTGAGAAGATT	0.478																																					p.L94V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T280G	12						.						140.0	137.0	138.0					12																	48888618		2203	4300	6503	47174885	SO:0001583	missense	121273	exon8			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.280T>G	12.37:g.48888618T>G	ENSP00000447109:p.Leu94Val		47174885	NM_152319	Q6X4S9|Q8N5S2	Missense_Mutation	SNP	ENST00000548364.1	37	CCDS8764.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661047	0.47572	.	.	ENSG00000177627	ENST00000314014;ENST00000548364	T;T	0.50813	0.73;0.73	4.88	0.751	0.18392	.	0.702601	0.11763	N	0.531934	T	0.29716	0.0742	N	0.24115	0.695	0.09310	N	1	B	0.30851	0.297	B	0.30179	0.112	T	0.20773	-1.0265	10	0.54805	T	0.06	-0.0561	5.5026	0.16836	0.1688:0.0:0.3498:0.4814	.	94	Q6X4T0	CL054_HUMAN	V	94	ENSP00000316898:L94V;ENSP00000447109:L94V	ENSP00000316898:L94V	L	+	1	2	C12orf54	47174885	0.011000	0.17503	0.000000	0.03702	0.590000	0.36582	0.830000	0.27462	0.379000	0.24794	0.529000	0.55759	TTG		0.478	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319	
KANSL2	54934	broad.mit.edu	37	12	49048753	49048753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:49048753C>A	ENST00000420613.2	-	9	1365	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	KANSL2_ENST00000553086.1_Nonsense_Mutation_p.E406*|KANSL2_ENST00000550347.1_Nonsense_Mutation_p.E623*|KANSL2_ENST00000548701.1_5'UTR|SNORA2A_ENST00000383885.1_RNA|SNORA34_ENST00000408564.2_RNA	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	440					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)|nucleoplasm (GO:0005654)		p.E440*(2)									TCAGCAATTTCTTTGACTAAA	0.453																																					p.E440X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1318T	12						.						77.0	78.0	78.0					12																	49048753		1905	4119	6024	47335020	SO:0001587	stop_gained	54934	exon9			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.1318G>T	12.37:g.49048753C>A	ENSP00000415436:p.Glu440*		47335020	NM_017822	Q8N3B5|Q96CV0|Q9NX51	Nonsense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	37	6.369893	0.97511	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086	.	.	.	5.72	5.72	0.89469	.	0.283030	0.39341	N	0.001397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-4.7574	10.8237	0.46620	0.0:0.9141:0.0:0.0859	.	.	.	.	X	623;440;154;406	.	ENSP00000415436:E440X	E	-	1	0	C12orf41	47335020	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.393000	0.59665	2.704000	0.92352	0.557000	0.71058	GAA		0.453	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	
KMT2D	8085	broad.mit.edu	37	12	49445250	49445250	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:49445250T>C	ENST00000301067.7	-	10	2215	c.2216A>G	c.(2215-2217)gAg>gGg	p.E739G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	739	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGCGGCCCCTCGGACCGGGG	0.701																																					p.E739G												.	.	0			c.A2216G	12						.						25.0	30.0	29.0					12																	49445250		1863	3998	5861	47731517	SO:0001583	missense	8085	exon10			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2216A>G	12.37:g.49445250T>C	ENSP00000301067:p.Glu739Gly		47731517	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823693	0.32237	.	.	ENSG00000167548	ENST00000301067	T	0.34472	1.36	3.5	1.1	0.20463	.	.	.	.	.	T	0.21674	0.0522	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25984	-1.0116	9	0.87932	D	0	.	2.5381	0.04719	0.201:0.2297:0.0:0.5692	.	739	O14686	MLL2_HUMAN	G	739	ENSP00000301067:E739G	ENSP00000301067:E739G	E	-	2	0	MLL2	47731517	0.991000	0.36638	0.405000	0.26409	0.047000	0.14425	0.940000	0.28992	0.232000	0.21100	0.460000	0.39030	GAG		0.701	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT83	3889	broad.mit.edu	37	12	52710781	52710781	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:52710781G>A	ENST00000293670.3	-	5	839	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	259	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.I259I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGTCTGAGATGTGGGATT	0.532																																					p.I259I	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C777T	12						.						141.0	124.0	130.0					12																	52710781		2203	4300	6503	50997048	SO:0001819	synonymous_variant	3889	exon5			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.777C>T	12.37:g.52710781G>A			50997048	NM_002282	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	ENST00000293670.3	37	CCDS8823.1																																																																																				0.532	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282	
KRT5	3852	broad.mit.edu	37	12	52909583	52909583	+	Splice_Site	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:52909583G>T	ENST00000252242.4	-	8	1863	c.1473C>A	c.(1471-1473)atC>atA	p.I491I		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	491	Tail.				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.I491I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTACTTACAGATGTTGACTG	0.388																																					p.I491I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1473A	12						.						165.0	148.0	154.0					12																	52909583		2203	4300	6503	51195850	SO:0001630	splice_region_variant	3852	exon8				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.1474+1C>A	12.37:g.52909583G>T			51195850	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363126	0.41902	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.81	3.01	0.34805	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53995	-0.8359	4	.	.	.	.	9.3282	0.38005	0.2242:0.0:0.7758:0.0	.	.	.	.	M	199	.	.	L	-	1	2	KRT5	51195850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.540000	0.36115	0.811000	0.34303	0.655000	0.94253	CTG		0.388	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		Silent
NPFF	8620	broad.mit.edu	37	12	53898568	53898568	+	IGR	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:53898568G>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Missense_Mutation_p.M173I|TARBP2_ENST00000456234.2_Missense_Mutation_p.M173I|TARBP2_ENST00000552857.1_Missense_Mutation_p.M103I|TARBP2_ENST00000266987.2_Missense_Mutation_p.M194I	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.M194I(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AATTCACCATGACCTGTCGAG	0.582																																					p.M173I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G519T	12						.						79.0	80.0	80.0					12																	53898568		2203	4300	6503	52184835	SO:0001628	intergenic_variant	6895	exon6			AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898568G>T			52184835	NM_004178	Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630246	0.28978	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000394357;ENST00000550407	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	4.9	4.9	0.64082	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	N	0.00746	-1.225	0.80722	D	1	D;B	0.59357	0.985;0.229	D;B	0.72338	0.977;0.348	T	0.66991	-0.5783	10	0.11182	T	0.66	0.0049	17.3565	0.87337	0.0:0.0:1.0:0.0	.	194;194	A8K3X2;Q15633	.;TRBP2_HUMAN	I	194;173;103;173;95	ENSP00000266987:M194I;ENSP00000416077:M173I;ENSP00000449537:M103I;ENSP00000377885:M173I	ENSP00000266987:M194I	M	+	3	0	TARBP2	52184835	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.377000	0.79668	2.717000	0.92951	0.491000	0.48974	ATG		0.582	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717	
ITGA7	3679	broad.mit.edu	37	12	56088241	56088241	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:56088241C>T	ENST00000555728.1	-	18	2503	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	ITGA7_ENST00000553804.1_Silent_p.E785E|ITGA7_ENST00000257880.7_Silent_p.E825E|ITGA7_ENST00000347027.6_Silent_p.E775E|ITGA7_ENST00000452168.2_Silent_p.E688E|ITGA7_ENST00000257879.6_Silent_p.E781E|ITGA7_ENST00000394229.2_Silent_p.E781E|ITGA7_ENST00000394230.2_Silent_p.E785E			Q13683	ITA7_HUMAN	integrin, alpha 7	825					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.E781E(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						CCAACAGCAGCTCTACCTCCA	0.587																																					p.E688E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2064A	12						.						72.0	64.0	67.0					12																	56088241		2203	4300	6503	54374508	SO:0001819	synonymous_variant	3679	exon17				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.2475G>A	12.37:g.56088241C>T			54374508	NM_001144997	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	ENST00000555728.1	37																																																																																					0.587	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206	
CNPY2	10330	broad.mit.edu	37	12	56704794	56704794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:56704794G>T	ENST00000273308.4	-	5	993	c.453C>A	c.(451-453)ttC>ttA	p.F151L	RP11-977G19.11_ENST00000549565.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.F151L	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	151	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)		p.F151L(1)		large_intestine(2)|lung(2)	4						CTCGGGAAAAGAATTCAATGA	0.478																																					p.F151L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C453A	12						.						123.0	118.0	120.0					12																	56704794		2203	4300	6503	54991061	SO:0001583	missense	10330	exon5			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.453C>A	12.37:g.56704794G>T	ENSP00000273308:p.Phe151Leu		54991061	NM_014255	B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	9.211	1.030939	0.19590	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.29	4.4	0.53042	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.05414	-0.055	0.80722	D	1	B	0.15141	0.012	B	0.17098	0.017	T	0.10405	-1.0631	10	0.02654	T	1	-12.6409	9.2619	0.37616	0.1664:0.0:0.8336:0.0	.	151	Q9Y2B0	CNPY2_HUMAN	L	151;151;151;99	ENSP00000446743:F151L;ENSP00000273308:F151L;ENSP00000448809:F151L;ENSP00000446784:F99L	ENSP00000273308:F151L	F	-	3	2	RP11-977G19.10;CNPY2	54991061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.197000	0.51028	1.379000	0.46325	0.561000	0.74099	TTC		0.478	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255	
HSD17B6	8630	broad.mit.edu	37	12	57181005	57181005	+	Missense_Mutation	SNP	G	G	A	rs557368967		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:57181005G>A	ENST00000554643.1	+	6	1182	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	HSD17B6_ENST00000555159.1_Missense_Mutation_p.R278Q|HSD17B6_ENST00000554150.1_Missense_Mutation_p.R278Q|HSD17B6_ENST00000555805.1_Missense_Mutation_p.R278Q|HSD17B6_ENST00000322165.1_Missense_Mutation_p.R278Q			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	278					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.R278Q(1)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GTGCATCCGCGAACTCGATAT	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19076	0.0		0.0	False		,,,				2504	0.0				p.R278Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	12						.						139.0	115.0	123.0					12																	57181005		2203	4300	6503	55467272	SO:0001583	missense	8630	exon5			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.833G>A	12.37:g.57181005G>A	ENSP00000451406:p.Arg278Gln		55467272	NM_003725	O43275	Missense_Mutation	SNP	ENST00000554643.1	37	CCDS8925.1	.	.	.	.	.	.	.	.	.	.	g	19.90	3.912611	0.72983	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	4.97	4.08	0.47627	NAD(P)-binding domain (1);	0.121470	0.38381	N	0.001704	D	0.89487	0.6729	M	0.79475	2.455	0.30192	N	0.799429	P	0.46395	0.877	B	0.40534	0.332	D	0.87197	0.2238	10	0.45353	T	0.12	.	12.1803	0.54208	0.0844:0.0:0.9156:0.0	.	278	O14756	H17B6_HUMAN	Q	278	ENSP00000450698:R278Q;ENSP00000451753:R278Q;ENSP00000451406:R278Q;ENSP00000452273:R278Q;ENSP00000318631:R278Q	ENSP00000318631:R278Q	R	+	2	0	HSD17B6	55467272	0.961000	0.32948	0.048000	0.18961	0.239000	0.25481	4.830000	0.62745	1.312000	0.45043	0.651000	0.88453	CGA		0.443	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725	
LRP1	4035	broad.mit.edu	37	12	57592421	57592421	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:57592421T>G	ENST00000243077.3	+	60	10110	c.9644T>G	c.(9643-9645)tTt>tGt	p.F3215C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3215					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.F3215C(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)	TACATTGAATTTGCCAGCCTG	0.592																																					p.F3215C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T9644G	12						.						57.0	43.0	48.0					12																	57592421		2203	4300	6503	55878688	SO:0001583	missense	4035	exon60			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.9644T>G	12.37:g.57592421T>G	ENSP00000243077:p.Phe3215Cys		55878688	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278429	0.59758	.	.	ENSG00000123384	ENST00000243077	D	0.95788	-3.81	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.95862	0.8653	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95060	0.8195	10	0.38643	T	0.18	.	13.0175	0.58766	0.0:0.0:0.0:1.0	.	3215	Q07954	LRP1_HUMAN	C	3215	ENSP00000243077:F3215C	ENSP00000243077:F3215C	F	+	2	0	LRP1	55878688	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.089000	0.71384	1.971000	0.57363	0.459000	0.35465	TTT		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
MARS	4141	broad.mit.edu	37	12	57908826	57908826	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:57908826G>A	ENST00000262027.5	+	17	2323	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.G496D	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	730					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.G730D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CGGATTAAAGGCAGTGAGGCT	0.512																																					p.G730D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2189A	12						.						70.0	66.0	67.0					12																	57908826		2203	4300	6503	56195093	SO:0001583	missense	4141	exon17			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2189G>A	12.37:g.57908826G>A	ENSP00000262027:p.Gly730Asp		56195093	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025879	0.75390	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.38401	1.14;1.14	5.32	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.054686	0.64402	D	0.000001	T	0.59609	0.2206	M	0.83953	2.67	0.80722	D	1	P;D	0.69078	0.923;0.997	P;D	0.67382	0.613;0.951	T	0.63211	-0.6688	10	0.54805	T	0.06	-17.0655	12.6964	0.57005	0.0819:0.0:0.9181:0.0	.	496;730	A6NC17;P56192	.;SYMC_HUMAN	D	730;496	ENSP00000262027:G730D;ENSP00000314653:G496D	ENSP00000262027:G730D	G	+	2	0	MARS	56195093	1.000000	0.71417	0.966000	0.40874	0.976000	0.68499	5.582000	0.67477	2.650000	0.89964	0.591000	0.81541	GGC		0.512	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
SLC16A7	9194	broad.mit.edu	37	12	60168780	60168780	+	Missense_Mutation	SNP	A	A	C	rs567459331		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:60168780A>C	ENST00000261187.4	+	4	868	c.704A>C	c.(703-705)aAg>aCg	p.K235T	SLC16A7_ENST00000547379.1_Missense_Mutation_p.K235T|SLC16A7_ENST00000552432.1_Missense_Mutation_p.K235T|SLC16A7_ENST00000552024.1_Missense_Mutation_p.K235T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.K136T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	235					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.K235T(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)	AAAGTTAATAAGTATTTAGAT	0.323																																					p.K235T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A704C	12						.						45.0	46.0	45.0					12																	60168780		2203	4300	6503	58455047	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.704A>C	12.37:g.60168780A>C	ENSP00000261187:p.Lys235Thr		58455047	NM_004731	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296459	0.23650	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448;ENST00000548444	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.76	-0.848	0.10727	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.348273	0.35291	N	0.003306	T	0.73434	0.3586	M	0.79805	2.47	0.29240	N	0.872701	B	0.14805	0.011	B	0.17979	0.02	T	0.60556	-0.7240	9	.	.	.	.	2.1308	0.03749	0.5647:0.1207:0.1986:0.116	.	235	O60669	MOT2_HUMAN	T	235;235;235;235;235;136;120	ENSP00000449547:K235T;ENSP00000448071:K235T;ENSP00000448742:K235T;ENSP00000446722:K235T;ENSP00000261187:K235T;ENSP00000443731:K136T;ENSP00000447814:K120T	.	K	+	2	0	SLC16A7	58455047	0.982000	0.34865	0.000000	0.03702	0.631000	0.37964	3.057000	0.49931	-0.074000	0.12820	-0.336000	0.08194	AAG		0.323	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
SLC16A7	9194	broad.mit.edu	37	12	60169185	60169185	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:60169185G>T	ENST00000261187.4	+	4	1273	c.1109G>T	c.(1108-1110)aGa>aTa	p.R370I	SLC16A7_ENST00000547379.1_Missense_Mutation_p.R370I|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R370I|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R370I|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R271I	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	370					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.R370I(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)	GGTGCACCAAGATTTTCCAGT	0.458																																					p.R370I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1109T	12						.						123.0	112.0	116.0					12																	60169185		2203	4300	6503	58455452	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.1109G>T	12.37:g.60169185G>T	ENSP00000261187:p.Arg370Ile		58455452	NM_004731	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353548	0.61293	.	.	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	5.77	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.043123	0.85682	D	0.000000	T	0.75539	0.3863	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82546	-0.0403	9	.	.	.	.	14.9998	0.71462	0.0683:0.0:0.9317:0.0	.	370	O60669	MOT2_HUMAN	I	370;370;370;370;370;271	ENSP00000449547:R370I;ENSP00000448071:R370I;ENSP00000448742:R370I;ENSP00000446722:R370I;ENSP00000261187:R370I;ENSP00000443731:R271I	.	R	+	2	0	SLC16A7	58455452	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	7.965000	0.87945	1.578000	0.49821	0.655000	0.94253	AGA		0.458	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
GRIP1	23426	broad.mit.edu	37	12	66786260	66786260	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:66786260C>A	ENST00000398016.3	-	18	2204	c.2136G>T	c.(2134-2136)aaG>aaT	p.K712N	GRIP1_ENST00000359742.4_Missense_Mutation_p.K764N|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.K764N	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.K712N(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)		TAGGGAACTTCTTGGGGCTCG	0.468																																					p.K712N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2136T	12						.						114.0	112.0	112.0					12																	66786260		1920	4139	6059	65072527	SO:0001583	missense	23426	exon18			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.2136G>T	12.37:g.66786260C>A	ENSP00000381098:p.Lys712Asn		65072527	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358321|2.358321	0.41801|0.41801	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.20332|.	2.08;2.09;2.09;2.08;2.17;2.17|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.173853|.	0.43416|.	D|.	0.000580|.	T|T	0.71668|0.71668	0.3367|0.3367	L|L	0.56769|0.56769	1.78|1.78	0.50632|0.50632	D|D	0.999887|0.999887	B;P;B;B|.	0.36683|.	0.001;0.565;0.356;0.016|.	B;B;B;B|.	0.32211|.	0.007;0.142;0.138;0.022|.	T|T	0.69632|0.69632	-0.5093|-0.5093	9|5	.|.	.|.	.|.	-17.7282|-17.7282	18.2146|18.2146	0.89881|0.89881	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	712;764;712;764|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	N|I	712;764;764;712;656;604|579	ENSP00000381098:K712N;ENSP00000352780:K764N;ENSP00000286445:K764N;ENSP00000446047:K712N;ENSP00000446024:K656N;ENSP00000446011:K604N|.	.|.	K|R	-|-	3|2	2|0	GRIP1|GRIP1	65072527|65072527	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	4.239000|4.239000	0.58694|0.58694	2.622000|2.622000	0.88805|0.88805	0.462000|0.462000	0.41574|0.41574	AAG|AGA		0.468	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
MDM1	56890	broad.mit.edu	37	12	68716947	68716947	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:68716947C>A	ENST00000303145.7	-	5	793	c.707G>T	c.(706-708)aGa>aTa	p.R236I	MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000411698.2_Missense_Mutation_p.R191I	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	236					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.R236I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTTGAAATTTCTTTTGTATTC	0.318																																					p.R236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	12						.						121.0	120.0	121.0					12																	68716947		2203	4300	6503	67003214	SO:0001583	missense	56890	exon5			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.707G>T	12.37:g.68716947C>A	ENSP00000302537:p.Arg236Ile		67003214	NM_017440	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837764	0.71373	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.26518	1.73;1.73;1.73	4.65	3.73	0.42828	.	0.114641	0.53938	D	0.000042	T	0.50497	0.1619	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.54390	-0.8301	9	.	.	.	-6.2412	15.32	0.74115	0.0:0.8589:0.1411:0.0	.	191;236	E7EPQ3;Q8TC05	.;MDM1_HUMAN	I	236;191;231	ENSP00000302537:R236I;ENSP00000391006:R191I;ENSP00000446000:R231I	.	R	-	2	0	MDM1	67003214	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.800000	0.47900	1.243000	0.43853	0.491000	0.48974	AGA		0.318	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
NUP107	57122	broad.mit.edu	37	12	69125453	69125453	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:69125453T>G	ENST00000229179.4	+	22	2284	c.1952T>G	c.(1951-1953)tTt>tGt	p.F651C	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Missense_Mutation_p.F622C	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	651					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.F651C(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)			AATGGTGAATTTAGTCATCAT	0.358																																					p.F651C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1952G	12						.						64.0	66.0	66.0					12																	69125453		2203	4300	6503	67411720	SO:0001583	missense	57122	exon22			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.1952T>G	12.37:g.69125453T>G	ENSP00000229179:p.Phe651Cys		67411720	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.845943	0.71603	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	N	0.14661	0.345	0.80722	D	1	P;P	0.49961	0.93;0.93	P;P	0.45913	0.497;0.497	T	0.30060	-0.9991	8	.	.	.	-20.7043	16.0725	0.80946	0.0:0.0:0.0:1.0	.	622;651	B4DZ67;P57740	.;NU107_HUMAN	C	651;622	.	.	F	+	2	0	NUP107	67411720	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.770000	0.74990	2.263000	0.75096	0.528000	0.53228	TTT		0.358	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
NUP107	57122	broad.mit.edu	37	12	69126508	69126508	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:69126508G>A	ENST00000229179.4	+	23	2422	c.2090G>A	c.(2089-2091)aGa>aAa	p.R697K	NUP107_ENST00000378905.2_Missense_Mutation_p.R458K|NUP107_ENST00000401003.3_3'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.R668K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	697					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.R697K(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)			GCAATTATGAGAAAATTCTTG	0.428																																					p.R697K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2090A	12						.						65.0	75.0	72.0					12																	69126508		2203	4300	6503	67412775	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.2090G>A	12.37:g.69126508G>A	ENSP00000229179:p.Arg697Lys		67412775	NM_020401	B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131819	0.77662	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.86268	2.805	0.34607	D	0.717187	D;D;D	0.89917	1.0;0.987;1.0	D;D;D	0.91635	0.999;0.991;0.999	D	0.86957	0.2089	8	.	.	.	-20.6351	19.3514	0.94389	0.0:0.0:1.0:0.0	.	668;458;697	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	K	697;458;668	.	.	R	+	2	0	NUP107	67412775	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	8.814000	0.91968	2.746000	0.94184	0.563000	0.77884	AGA		0.428	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	
BEST3	144453	broad.mit.edu	37	12	70048845	70048845	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:70048845G>T	ENST00000330891.5	-	10	2075	c.1849C>A	c.(1849-1851)Ctt>Att	p.L617I	BEST3_ENST00000488961.1_Missense_Mutation_p.L404I|BEST3_ENST00000553096.1_Missense_Mutation_p.L511I|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	617					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.L617I(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAATTAAAAGAGCTGGCTGA	0.478																																					p.L404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1210A	12						.						84.0	81.0	82.0					12																	70048845		1887	4111	5998	68335112	SO:0001583	missense	144453	exon6			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1849C>A	12.37:g.70048845G>T	ENSP00000332413:p.Leu617Ile		68335112	NM_152439	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271964	0.59649	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98012	-4.36;-4.66;-4.64	5.53	5.53	0.82687	.	0.534882	0.17561	N	0.169807	D	0.96374	0.8817	L	0.34521	1.04	0.80722	D	1	P;P	0.50819	0.487;0.939	B;P	0.48952	0.146;0.596	D	0.95550	0.8620	10	0.33940	T	0.23	-7.2764	17.2224	0.86961	0.0:0.0:1.0:0.0	.	617;404	Q8N1M1;B5MDI8	BEST3_HUMAN;.	I	404;617;511	ENSP00000433213:L404I;ENSP00000332413:L617I;ENSP00000449548:L511I	ENSP00000332413:L617I	L	-	1	0	BEST3	68335112	0.349000	0.24870	0.023000	0.16930	0.192000	0.23643	3.181000	0.50903	2.593000	0.87608	0.563000	0.77884	CTT		0.478	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
BEST3	144453	broad.mit.edu	37	12	70091460	70091460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:70091460G>A	ENST00000330891.5	-	2	345	c.119C>T	c.(118-120)gCt>gTt	p.A40V	BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.A40V|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	40					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.A40V(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATAAAGAACAGCAAAAACAAT	0.343																																					p.A40V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C119T	12						.						94.0	92.0	93.0					12																	70091460		1847	4094	5941	68377727	SO:0001583	missense	144453	exon2			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.119C>T	12.37:g.70091460G>A	ENSP00000332413:p.Ala40Val		68377727	NM_032735	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654338	0.47467	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98419	-4.92;-4.92;-4.92	5.84	5.84	0.93424	.	0.224693	0.46145	D	0.000311	D	0.91918	0.7441	N	0.00308	-1.67	0.80722	D	1	B;B	0.25105	0.118;0.0	B;B	0.29353	0.101;0.002	D	0.87807	0.2629	10	0.42905	T	0.14	-18.8603	20.1535	0.98095	0.0:0.0:1.0:0.0	.	40;40	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	V	40	ENSP00000329064:A40V;ENSP00000332413:A40V;ENSP00000446575:A40V	ENSP00000332413:A40V	A	-	2	0	BEST3	68377727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.874000	0.48483	2.764000	0.94973	0.650000	0.86243	GCT		0.343	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439	
PTPRR	5801	broad.mit.edu	37	12	71148079	71148079	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:71148079T>G	ENST00000283228.2	-	5	1082	c.630A>C	c.(628-630)aaA>aaC	p.K210N	PTPRR_ENST00000378778.1_Missense_Mutation_p.K4N|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000549308.1_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.K98N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	210					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.K210N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTAAAACATTTTTCTTTAAAA	0.348																																					p.K210N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A630C	12						.						78.0	79.0	79.0					12																	71148079		2203	4298	6501	69434346	SO:0001583	missense	5801	exon5			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.630A>C	12.37:g.71148079T>G	ENSP00000283228:p.Lys210Asn		69434346	NM_002849	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420326	0.62622	.	.	ENSG00000153233	ENST00000283228;ENST00000378778;ENST00000342084	T;T;T	0.35421	1.31;1.31;1.31	5.86	4.67	0.58626	.	0.259223	0.26680	U	0.023045	T	0.38692	0.1050	L	0.47716	1.5	0.49051	D	0.999749	D;P;P;P	0.53619	0.961;0.592;0.787;0.682	P;B;P;B	0.47206	0.541;0.322;0.526;0.172	T	0.33879	-0.9851	10	0.72032	D	0.01	-24.8944	13.2648	0.60127	0.0:0.0:0.1318:0.8682	.	59;98;4;210	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	210;4;98	ENSP00000283228:K210N;ENSP00000368054:K4N;ENSP00000339605:K98N	ENSP00000283228:K210N	K	-	3	2	PTPRR	69434346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.902000	0.48703	2.237000	0.73441	0.523000	0.50628	AAA		0.348	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
TRHDE	29953	broad.mit.edu	37	12	72863578	72863578	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:72863578G>T	ENST00000261180.4	+	4	1317	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding. {ECO:0000250}.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373																																					p.E407D												.	.	0			c.G1221T	12						.						155.0	155.0	155.0					12																	72863578		2203	4300	6503	71149845	SO:0001583	missense	29953	exon4			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1221G>T	12.37:g.72863578G>T	ENSP00000261180:p.Glu407Asp		71149845	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322345	0.81580	.	.	ENSG00000072657	ENST00000261180	T	0.16196	2.36	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70565	-0.4837	10	0.87932	D	0	.	11.4746	0.50291	0.1383:0.0:0.8617:0.0	.	407	Q9UKU6	TRHDE_HUMAN	D	407	ENSP00000261180:E407D	ENSP00000261180:E407D	E	+	3	2	TRHDE	71149845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.839000	0.69395	2.785000	0.95823	0.650000	0.86243	GAG		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
NAV3	89795	broad.mit.edu	37	12	78400534	78400534	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:78400534G>T	ENST00000397909.2	+	8	1389	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.G406*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.G406*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.G406*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	406						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G406*(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						TCCCAGTTCAGGACCTAGTGA	0.493										HNSCC(70;0.22)																											p.G406X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1216T	12						.						110.0	110.0	110.0					12																	78400534		1969	4147	6116	76924665	SO:0001587	stop_gained	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.1216G>T	12.37:g.78400534G>T	ENSP00000381007:p.Gly406*		76924665	NM_014903	Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.056933|7.056933	0.98032|0.98032	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.196462|.	0.23991|.	U|.	0.042576|.	.|T	.|0.74635	.|0.3742	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72388	.|-0.4309	.|4	0.08381|.	T|.	0.77|.	-15.3704|-15.3704	18.1163|18.1163	0.89556|0.89556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	406|229	.|.	ENSP00000228327:G406X|.	G|R	+|+	1|2	0|0	NAV3|NAV3	76924665|76924665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	3.945000|3.945000	0.56637|0.56637	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.493	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78582464	78582464	+	Missense_Mutation	SNP	G	G	A	rs376780536		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:78582464G>A	ENST00000397909.2	+	33	6135	c.5962G>A	c.(5962-5964)Gac>Aac	p.D1988N	NAV3_ENST00000266692.7_Missense_Mutation_p.D1789N|NAV3_ENST00000536525.2_Missense_Mutation_p.D1966N|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.D1966N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1988						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D1966N(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						CTGTATAGGAGACTTAATTAG	0.393										HNSCC(70;0.22)																											p.D1966N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5896A	12						.	G	ASN/ASP	0,3838		0,0,1919	121.0	117.0	118.0		5896	5.1	1.0	12		118	1,8273		0,1,4136	no	missense	NAV3	NM_014903.4	23	0,1,6055	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	1966/2364	78582464	1,12111	1919	4137	6056	77106595	SO:0001583	missense	89795	exon32			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.5962G>A	12.37:g.78582464G>A	ENSP00000381007:p.Asp1988Asn		77106595	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.154355|5.154355	0.94686|0.94686	0.0|0.0	1.21E-4|1.21E-4	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29142|.	1.66;1.67;1.66;1.58;2.43|.	5.95|5.95	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.41294|.	U|.	0.000904|.	T|T	0.67353|0.67353	0.2884|0.2884	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;B;D;B|.	0.71674|.	0.998;0.001;0.991;0.006|.	D;B;P;B|.	0.67900|.	0.954;0.008;0.787;0.011|.	T|T	0.65315|0.65315	-0.6198|-0.6198	10|5	0.49607|.	T|.	0.09|.	-7.0815|-7.0815	15.2307|15.2307	0.73386|0.73386	0.0669:0.0:0.9331:0.0|0.0669:0.0:0.9331:0.0	.|.	1966;1789;1988;1966|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	N|K	1966;1988;1966;1789;580;588|860	ENSP00000446132:D1966N;ENSP00000381007:D1988N;ENSP00000228327:D1966N;ENSP00000266692:D1789N;ENSP00000448303:D588N|.	ENSP00000228327:D1966N|.	D|R	+|+	1|2	0|0	NAV3|NAV3	77106595|77106595	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	9.786000|9.786000	0.99046|0.99046	1.539000|1.539000	0.49286|0.49286	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.393	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
NAV3	89795	broad.mit.edu	37	12	78591070	78591070	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:78591070C>A	ENST00000397909.2	+	35	6508	c.6335C>A	c.(6334-6336)gCt>gAt	p.A2112D	NAV3_ENST00000266692.7_Missense_Mutation_p.A1913D|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000536525.2_Missense_Mutation_p.A2090D|NAV3_ENST00000228327.6_Missense_Mutation_p.A2090D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2112						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.A2090D(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						CAGTGCAGTGCTGATAATAAT	0.348										HNSCC(70;0.22)																											p.A2090D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6269A	12						.						126.0	114.0	118.0					12																	78591070		1847	4094	5941	77115201	SO:0001583	missense	89795	exon34			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.6335C>A	12.37:g.78591070C>A	ENSP00000381007:p.Ala2112Asp		77115201	NM_014903	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055216|3.055216	0.55325|0.55325	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29655|.	1.67;1.66;1.67;1.56;2.45|.	5.35|5.35	5.35|5.35	0.76521|0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.39834|.	U|.	0.001245|.	T|.	0.68449|.	0.3002|.	L|L	0.43701|0.43701	1.375|1.375	0.80722|0.80722	D|D	1|1	P;P;D;P|.	0.55172|.	0.949;0.557;0.97;0.902|.	P;B;P;P|.	0.56563|.	0.542;0.234;0.801;0.52|.	T|.	0.63681|.	-0.6582|.	10|.	0.52906|.	T|.	0.07|.	-19.0918|-19.0918	19.4322|19.4322	0.94775|0.94775	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2090;1913;2112;2090|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	D|X	2090;2112;2090;1913;704;712|984	ENSP00000446132:A2090D;ENSP00000381007:A2112D;ENSP00000228327:A2090D;ENSP00000266692:A1913D;ENSP00000448303:A712D|.	ENSP00000228327:A2090D|.	A|C	+|+	2|3	0|2	NAV3|NAV3	77115201|77115201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.793000|0.793000	0.44817|0.44817	4.827000|4.827000	0.62723|0.62723	2.649000|2.649000	0.89929|0.89929	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.348	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PPFIA2	8499	broad.mit.edu	37	12	81839465	81839465	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:81839465C>T	ENST00000549396.1	-	6	600	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	PPFIA2_ENST00000549325.1_Missense_Mutation_p.R129Q|PPFIA2_ENST00000550359.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R73Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R147Q|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R73Q|PPFIA2_ENST00000550584.2_Missense_Mutation_p.R147Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R147Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R129Q	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	147	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.R147Q(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						TCTTTCATGTCGTGACACAAG	0.393																																					p.R147Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G440A	12						.						98.0	89.0	92.0					12																	81839465		1881	4113	5994	80363596	SO:0001583	missense	8499	exon6			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.440G>A	12.37:g.81839465C>T	ENSP00000450337:p.Arg147Gln		80363596	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	37	6.001707	0.97189	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.75484	0.986;0.921	T	0.61922	-0.6963	10	0.87932	D	0	-10.6387	20.3736	0.98901	0.0:1.0:0.0:0.0	.	47;147	B7Z4H8;O75334	.;LIPA2_HUMAN	Q	147;129;73;158;129;147;73;147;129	ENSP00000450337:R147Q;ENSP00000450298:R129Q;ENSP00000385093:R73Q;ENSP00000327416:R129Q;ENSP00000449338:R147Q;ENSP00000388373:R73Q;ENSP00000447868:R147Q;ENSP00000449469:R129Q	ENSP00000327416:R129Q	R	-	2	0	PPFIA2	80363596	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CGA		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
SLC6A15	55117	broad.mit.edu	37	12	85285752	85285752	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:85285752C>A	ENST00000266682.5	-	2	689	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	SLC6A15_ENST00000450363.3_Missense_Mutation_p.D50Y|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	50					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.D50Y(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCTTCAACATCTGTATCTTTC	0.403																																					p.D50Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G148T	12						.						215.0	195.0	202.0					12																	85285752		2203	4300	6503	83809883	SO:0001583	missense	55117	exon2			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.148G>T	12.37:g.85285752C>A	ENSP00000266682:p.Asp50Tyr		83809883	NM_018057	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708288	0.68615	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.74002	-0.8;-0.48;0.81	5.53	4.64	0.57946	.	0.411674	0.30714	N	0.009036	T	0.80363	0.4609	M	0.72479	2.2	0.58432	D	0.999996	P;P	0.51351	0.944;0.938	P;P	0.50617	0.492;0.646	T	0.82904	-0.0226	10	0.59425	D	0.04	.	16.1592	0.81686	0.1344:0.8656:0.0:0.0	.	50;50	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	Y	50	ENSP00000266682:D50Y;ENSP00000390706:D50Y;ENSP00000448308:D50Y	ENSP00000266682:D50Y	D	-	1	0	SLC6A15	83809883	1.000000	0.71417	0.241000	0.24154	0.716000	0.41182	5.933000	0.70130	1.450000	0.47717	0.655000	0.94253	GAT		0.403	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
LRRIQ1	84125	broad.mit.edu	37	12	85492678	85492678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:85492678G>T	ENST00000393217.2	+	13	3176	c.3115G>T	c.(3115-3117)Gaa>Taa	p.E1039*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1039								p.E1039*(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTACTAAGAGAATTGCACTT	0.294																																					p.E1039X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G3115T	12						.						82.0	85.0	84.0					12																	85492678		2202	4294	6496	84016809	SO:0001587	stop_gained	84125	exon13			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3115G>T	12.37:g.85492678G>T	ENSP00000376910:p.Glu1039*		84016809	NM_032165	Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	40	8.443873	0.98813	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.4	5.4	0.78164	.	0.056303	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.9326	0.70929	0.0:0.0:0.848:0.152	.	.	.	.	X	1039;1014;1039	.	ENSP00000256007:E1039X	E	+	1	0	LRRIQ1	84016809	1.000000	0.71417	0.998000	0.56505	0.796000	0.44982	2.903000	0.48711	2.521000	0.84997	0.585000	0.79938	GAA		0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
MGAT4C	25834	broad.mit.edu	37	12	86377441	86377441	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:86377441T>G	ENST00000604798.1	-	7	1359	c.155A>C	c.(154-156)gAc>gCc	p.D52A	MGAT4C_ENST00000549405.2_Missense_Mutation_p.D52A|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D52A|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D52A|MGAT4C_ENST00000552435.2_Missense_Mutation_p.D52A|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D52A|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D81A			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	52					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.D52A(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						AAGTTGTTTGTCTCCTTCCTA	0.308																																					p.D52A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A155C	12						.						105.0	106.0	105.0					12																	86377441		2203	4300	6503	84901572	SO:0001583	missense	25834	exon6				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.155A>C	12.37:g.86377441T>G	ENSP00000474896:p.Asp52Ala		84901572	NM_013244	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453868	0.63290	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.44083	1.51;1.48;1.51;1.51;1.51;0.93	5.44	5.44	0.79542	.	0.067176	0.64402	D	0.000011	T	0.34308	0.0893	L	0.44542	1.39	0.44024	D	0.996745	P;P	0.37914	0.505;0.611	B;B	0.35182	0.158;0.197	T	0.10590	-1.0623	10	0.13853	T	0.58	-8.4345	15.502	0.75705	0.0:0.0:0.0:1.0	.	81;52	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	A	52;81;52;52;52;52;52;52	ENSP00000331664:D52A;ENSP00000376900:D81A;ENSP00000449022:D52A;ENSP00000446647:D52A;ENSP00000447253:D52A;ENSP00000449172:D52A	ENSP00000331664:D52A	D	-	2	0	MGAT4C	84901572	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.665000	0.83852	2.071000	0.62044	0.460000	0.39030	GAC		0.308	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
C12orf50	160419	broad.mit.edu	37	12	88381687	88381687	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:88381687T>C	ENST00000298699.2	-	9	937	c.757A>G	c.(757-759)Acg>Gcg	p.T253A	C12orf50_ENST00000550553.1_Intron	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	253								p.T253A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AATACATGCGTTGTAGGTACT	0.358																																					p.T253A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A757G	12						.						158.0	141.0	147.0					12																	88381687		2203	4300	6503	86905818	SO:0001583	missense	160419	exon9			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.757A>G	12.37:g.88381687T>C	ENSP00000298699:p.Thr253Ala		86905818	NM_152589	Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.858959	0.32884	.	.	ENSG00000165805	ENST00000298699	T	0.32988	1.43	5.76	2.12	0.27331	.	0.684740	0.14380	N	0.323164	T	0.28928	0.0718	M	0.65975	2.015	0.58432	D	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.04115	-1.0976	10	0.32370	T	0.25	.	7.3786	0.26843	0.0:0.2509:0.0:0.7491	.	253	Q8NA57	CL050_HUMAN	A	253	ENSP00000298699:T253A	ENSP00000298699:T253A	T	-	1	0	C12orf50	86905818	0.163000	0.22920	0.763000	0.31416	0.823000	0.46562	-0.108000	0.10857	0.123000	0.18342	-0.263000	0.10527	ACG		0.358	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589	
DUSP6	1848	broad.mit.edu	37	12	89744373	89744373	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:89744373G>T	ENST00000279488.7	-	2	2061	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	DUSP6_ENST00000547291.1_Missense_Mutation_p.S152Y|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	277	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.S277Y(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						ACCTATGAAAGAAATGGCCTC	0.418																																					p.S277Y	Colon(132;3456 5224)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C830A	12						.						87.0	97.0	94.0					12																	89744373		2203	4300	6503	88268504	SO:0001583	missense	1848	exon2			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.830C>A	12.37:g.89744373G>T	ENSP00000279488:p.Ser277Tyr		88268504	NM_001946	O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056798	0.76074	.	.	ENSG00000139318	ENST00000279488;ENST00000547291	T;T	0.61040	0.14;0.14	5.86	4.97	0.65823	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.198644	0.56097	D	0.000039	T	0.63558	0.2521	M	0.73319	2.225	0.58432	D	0.999998	B	0.33739	0.422	B	0.38921	0.285	T	0.67345	-0.5694	10	0.72032	D	0.01	.	17.0901	0.86619	0.0:0.1268:0.8732:0.0	.	277	Q16828	DUS6_HUMAN	Y	277;152	ENSP00000279488:S277Y;ENSP00000449838:S152Y	ENSP00000279488:S277Y	S	-	2	0	DUSP6	88268504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.758000	0.68776	1.462000	0.47948	0.655000	0.94253	TCT		0.418	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652	
POC1B	282809	broad.mit.edu	37	12	89860596	89860596	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:89860596A>G	ENST00000313546.3	-	9	1111	c.983T>C	c.(982-984)aTc>aCc	p.I328T	POC1B_ENST00000541909.1_Missense_Mutation_p.I198T|POC1B_ENST00000393179.4_Missense_Mutation_p.I198T|POC1B_ENST00000549504.1_Missense_Mutation_p.S79P|POC1B_ENST00000549035.1_Missense_Mutation_p.I286T|POC1B_ENST00000378528.2_Missense_Mutation_p.S115P	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	328					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.I328T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTTGGGTAGATATCAAGAAG	0.343																																					p.I328T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T983C	12						.						228.0	213.0	218.0					12																	89860596		2203	4300	6503	88384727	SO:0001583	missense	282809	exon9			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.983T>C	12.37:g.89860596A>G	ENSP00000323302:p.Ile328Thr		88384727	NM_172240	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.60|17.60	3.430019|3.430019	0.62844|0.62844	.|.	.|.	ENSG00000139323|ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909|ENST00000378528;ENST00000549504	T;T;T;T|T	0.61859|0.76578	0.29;0.07;0.28;0.47|-1.03	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.096735|.	0.64402|.	D|.	0.000001|.	T|T	0.81735|0.81735	0.4885|0.4885	L|L	0.55990|0.55990	1.75|1.75	0.27113|0.27113	N|N	0.962323|0.962323	D|.	0.76494|.	0.999|.	D|.	0.80764|.	0.994|.	T|T	0.77539|0.77539	-0.2550|-0.2550	10|7	0.33940|0.87932	T|D	0.23|0	.|.	15.1292|15.1292	0.72507|0.72507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	328|.	Q8TC44|.	POC1B_HUMAN|.	T|P	198;328;286;198|115;79	ENSP00000376877:I198T;ENSP00000323302:I328T;ENSP00000447916:I286T;ENSP00000440301:I198T|ENSP00000367789:S115P	ENSP00000323302:I328T|ENSP00000367789:S115P	I|S	-|-	2|1	0|0	POC1B|POC1B	88384727|88384727	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.901000|0.901000	0.52897|0.52897	8.159000|8.159000	0.89651|0.89651	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
CCER1	196477	broad.mit.edu	37	12	91347616	91347616	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:91347616C>T	ENST00000358859.2	-	1	1337	c.904G>A	c.(904-906)Gag>Aag	p.E302K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	302	Glu-rich.							p.E302K(1)									tcttcctcctcGCTCGCCTCC	0.537																																					p.E302K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	12						.						208.0	185.0	193.0					12																	91347616		2203	4300	6503	89871747	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.904G>A	12.37:g.91347616C>T	ENSP00000351727:p.Glu302Lys		89871747	NM_152638	Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	7.737	0.700562	0.15106	.	.	ENSG00000197651	ENST00000358859	T	0.25749	1.78	4.28	1.15	0.20763	.	.	.	.	.	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	1	D	0.56287	0.975	B	0.43155	0.41	T	0.14868	-1.0457	9	0.39692	T	0.17	2.9967	11.5622	0.50782	0.0:0.4506:0.5494:0.0	.	302	Q8TC90	CL012_HUMAN	K	302	ENSP00000351727:E302K	ENSP00000351727:E302K	E	-	1	0	C12orf12	89871747	0.935000	0.31712	0.015000	0.15790	0.053000	0.15095	1.879000	0.39618	0.041000	0.15688	0.460000	0.39030	GAG		0.537	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
DCN	1634	broad.mit.edu	37	12	91539867	91539867	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:91539867G>A	ENST00000052754.5	-	8	1549	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	DCN_ENST00000228329.5_Missense_Mutation_p.R241C|DCN_ENST00000393155.1_Missense_Mutation_p.R350C|DCN_ENST00000547568.2_Missense_Mutation_p.R203C|DCN_ENST00000420120.2_Missense_Mutation_p.R241C|DCN_ENST00000303320.3_Missense_Mutation_p.R163C|DCN_ENST00000552962.1_Missense_Mutation_p.R350C|DCN_ENST00000425043.1_Missense_Mutation_p.R203C|DCN_ENST00000441303.2_Missense_Mutation_p.R163C	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	350					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|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 disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.R350C(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGGCAGAGCGCACGTAGACA	0.408																																					p.R350C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048T	12						.						115.0	113.0	114.0					12																	91539867		2203	4300	6503	90063998	SO:0001583	missense	1634	exon8			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.1048C>T	12.37:g.91539867G>A	ENSP00000052754:p.Arg350Cys		90063998	NM_001920	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.099193|5.099193	0.94197|0.94197	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000548218|ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568	.|T;T;T;T;T;T;T;T;T	.|0.79454	.|0.26;-0.0;-1.27;0.26;0.22;0.26;-0.0;-1.27;0.22	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89245|0.89245	0.6660|0.6660	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;1.0	.|P;D;D;D	.|0.83275	.|0.727;0.996;0.909;0.913	D|D	0.90008|0.90008	0.4119|0.4119	5|10	.|0.87932	.|D	.|0	.|.	19.6547|19.6547	0.95831|0.95831	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|350;163;203;241	.|P07585;P07585-4;P07585-3;P07585-2	.|PGS2_HUMAN;.;.;.	V|C	40|350;241;163;350;203;350;241;163;203	.|ENSP00000052754:R350C;ENSP00000228329:R241C;ENSP00000302031:R163C;ENSP00000376862:R350C;ENSP00000401021:R203C;ENSP00000447654:R350C;ENSP00000413723:R241C;ENSP00000399815:R163C;ENSP00000447674:R203C	.|ENSP00000052754:R350C	A|R	-|-	2|1	0|0	DCN|DCN	90063998|90063998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.875000|7.875000	0.87205|0.87205	2.661000|2.661000	0.90470|0.90470	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.408	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
FGD6	55785	broad.mit.edu	37	12	95488438	95488438	+	Missense_Mutation	SNP	G	G	A	rs377183623		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:95488438G>A	ENST00000343958.4	-	15	3753	c.3530C>T	c.(3529-3531)gCg>gTg	p.A1177V	FGD6_ENST00000546711.1_Missense_Mutation_p.A1177V|FGD6_ENST00000549499.1_Missense_Mutation_p.A1177V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1177	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A1177V(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCTGGAAATCGCTTCTAGCCA	0.388																																					p.A1177V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3530T	12						.	G	VAL/ALA	0,4406		0,0,2203	151.0	147.0	148.0		3530	5.2	0.9	12		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	FGD6	NM_018351.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1177/1431	95488438	1,13005	2203	4300	6503	94012569	SO:0001583	missense	55785	exon15			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3530C>T	12.37:g.95488438G>A	ENSP00000344446:p.Ala1177Val		94012569	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386941	0.61956	0.0	1.16E-4	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	6.04	5.15	0.70609	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.48767	D	0.000171	D	0.85860	0.5795	L	0.42245	1.32	0.58432	D	0.999999	P;D	0.89917	0.938;1.0	P;D	0.97110	0.653;1.0	D	0.85902	0.1435	10	0.45353	T	0.12	-14.1217	15.5249	0.75894	0.0661:0.0:0.9339:0.0	.	1177;1177	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	V	1177;1177;173;1177	ENSP00000344446:A1177V;ENSP00000450342:A1177V;ENSP00000450240:A173V;ENSP00000449005:A1177V	ENSP00000344446:A1177V	A	-	2	0	FGD6	94012569	1.000000	0.71417	0.946000	0.38457	0.993000	0.82548	9.139000	0.94554	1.568000	0.49683	0.561000	0.74099	GCG		0.388	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
ZNF140	7699	broad.mit.edu	37	12	133683196	133683196	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:133683196A>C	ENST00000355557.2	+	5	2616	c.1333A>C	c.(1333-1335)Aat>Cat	p.N445H	ZNF140_ENST00000544426.1_Missense_Mutation_p.N342H|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	445					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.N445H(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)		TGAATATGAAAATTCATTTAA	0.348																																					p.N445H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1333C	12						.						60.0	61.0	60.0					12																	133683196		2200	4292	6492	132193269	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.1333A>C	12.37:g.133683196A>C	ENSP00000347755:p.Asn445His		132193269	NM_003440	D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	ENST00000355557.2	37	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785911	0.49997	.	.	ENSG00000196387	ENST00000355557;ENST00000544426	T;T	0.60548	0.18;0.18	3.47	3.47	0.39725	.	0.204155	0.24368	N	0.039127	T	0.48095	0.1481	L	0.28608	0.87	0.80722	D	1	P	0.42039	0.769	B	0.42882	0.401	T	0.55711	-0.8098	10	0.87932	D	0	.	11.8975	0.52663	1.0:0.0:0.0:0.0	.	445	P52738	ZN140_HUMAN	H	445;342	ENSP00000347755:N445H;ENSP00000445411:N342H	ENSP00000347755:N445H	N	+	1	0	ZNF140	132193269	0.032000	0.19561	1.000000	0.80357	0.989000	0.77384	2.111000	0.41883	1.819000	0.53055	0.460000	0.39030	AAT		0.348	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440	
OR4M2	390538	broad.mit.edu	37	15	22368853	22368853	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:22368853C>A	ENST00000332663.2	+	1	376	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93Y(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATAATTTCTTTTGATGGA	0.438																																					p.S93Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278A	15						.						327.0	278.0	295.0					15																	22368853		2203	4300	6503	19870217	SO:0001583	missense	390538	exon1			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.278C>A	15.37:g.22368853C>A	ENSP00000329467:p.Ser93Tyr		19870217	NM_001004719	B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.25	2.182527	0.38511	.	.	ENSG00000182974	ENST00000332663	T	0.00745	5.75	2.5	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000272	T	0.05181	0.0138	H	0.94345	3.525	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.08764	-1.0706	10	0.87932	D	0	-16.9563	7.0514	0.25075	0.0:0.8505:0.0:0.1495	.	93	Q8NGB6	OR4M2_HUMAN	Y	93	ENSP00000329467:S93Y	ENSP00000329467:S93Y	S	+	2	0	OR4M2	19870217	0.000000	0.05858	0.872000	0.34217	0.873000	0.50193	0.912000	0.28597	0.390000	0.25115	0.448000	0.29417	TCT		0.438	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1		
OR4N4	283694	broad.mit.edu	37	15	22382489	22382489	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:22382489A>C	ENST00000328795.4	+	1	108	c.17A>C	c.(16-18)aAc>aCc	p.N6T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATAGCAAACAACACAGTAGTG	0.348																																					p.N6T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A17C	15						.						171.0	159.0	163.0					15																	22382489		2190	4263	6453	19883853	SO:0001583	missense	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.17A>C	15.37:g.22382489A>C	ENSP00000332500:p.Asn6Thr		19883853	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.369045	0.00209	.	.	ENSG00000183706	ENST00000328795	T	0.00514	6.88	3.34	-0.161	0.13371	.	0.504643	0.18478	N	0.140019	T	0.00271	0.0008	N	0.20304	0.555	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.40384	-0.9566	10	0.15066	T	0.55	-1.0899	2.4776	0.04580	0.4292:0.0:0.3507:0.2202	.	6	Q8N0Y3	OR4N4_HUMAN	T	6	ENSP00000332500:N6T	ENSP00000332500:N6T	N	+	2	0	OR4N4	19883853	0.000000	0.05858	0.821000	0.32701	0.029000	0.11900	-2.044000	0.01411	0.097000	0.17492	0.324000	0.21423	AAC		0.348	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
GABRB3	2562	broad.mit.edu	37	15	26793032	26793032	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:26793032C>T	ENST00000311550.5	-	9	1441	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	GABRB3_ENST00000541819.2_Missense_Mutation_p.D500N|GABRB3_ENST00000299267.4_Missense_Mutation_p.D444N|GABRB3_ENST00000400188.3_Missense_Mutation_p.D373N|GABRB3_ENST00000545868.1_Missense_Mutation_p.D359N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	444					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.D444N(4)|p.D500N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCATTCACATCGGTTAGATCA	0.458																																					p.D444N												.	.	5	Substitution - Missense(5)	cervix(3)|large_intestine(2)	c.G1330A	15						.						121.0	100.0	107.0					15																	26793032		2203	4300	6503	24344125	SO:0001583	missense	2562	exon9				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1330G>A	15.37:g.26793032C>T	ENSP00000308725:p.Asp444Asn		24344125	NM_021912	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997911	0.54147	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	6.03	6.03	0.97812	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84723	0.5535	L	0.48260	1.515	0.80722	D	1	P;P;P	0.50443	0.893;0.92;0.935	B;B;P	0.46362	0.296;0.267;0.514	T	0.82329	-0.0511	10	0.30078	T	0.28	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	500;444;444	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	N	444;500;444;373;359	ENSP00000308725:D444N;ENSP00000442408:D500N;ENSP00000299267:D444N;ENSP00000383049:D373N;ENSP00000439169:D359N	ENSP00000299267:D444N	D	-	1	0	GABRB3	24344125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.984000	0.70548	2.861000	0.98227	0.655000	0.94253	GAT		0.458	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
HERC2	8924	broad.mit.edu	37	15	28514407	28514407	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:28514407T>G	ENST00000261609.7	-	11	1541	c.1433A>C	c.(1432-1434)aAt>aCt	p.N478T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.N478T(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)		CGTGTCACTATTATAGGCCTG	0.552																																					p.N478T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1433C	15						.						71.0	56.0	61.0					15																	28514407		2203	4300	6503	26188002	SO:0001583	missense	8924	exon11			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.1433A>C	15.37:g.28514407T>G	ENSP00000261609:p.Asn478Thr		26188002	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	2.386	-0.340991	0.05243	.	.	ENSG00000128731	ENST00000261609	T	0.79141	-1.24	5.78	3.49	0.39957	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.096395	0.64402	D	0.000001	T	0.69860	0.3158	M	0.65677	2.01	0.39946	D	0.974478	B	0.22800	0.075	B	0.19946	0.027	T	0.59402	-0.7461	10	0.07030	T	0.85	.	9.8485	0.41041	0.0:0.1378:0.0:0.8622	.	478	O95714	HERC2_HUMAN	T	478	ENSP00000261609:N478T	ENSP00000261609:N478T	N	-	2	0	HERC2	26188002	1.000000	0.71417	0.964000	0.40570	0.103000	0.19146	4.335000	0.59298	0.468000	0.27243	0.533000	0.62120	AAT		0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu	37	15	30011134	30011134	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:30011134G>A	ENST00000346128.6	-	21	3686	c.3212C>T	c.(3211-3213)tCt>tTt	p.S1071F	TJP1_ENST00000356107.6_Missense_Mutation_p.S1071F|TJP1_ENST00000545208.2_Missense_Mutation_p.S991F|TJP1_ENST00000400011.2_Missense_Mutation_p.S995F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1071					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.S1071F(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATAGTTTCGAGAAAACTGGTC	0.488																																					p.S991F	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2972T	15						.						296.0	289.0	292.0					15																	30011134		2059	4206	6265	27798426	SO:0001583	missense	7082	exon20				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3212C>T	15.37:g.30011134G>A	ENSP00000281537:p.Ser1071Phe		27798426	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608421	0.66558	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.07444	3.19;3.25	5.93	5.93	0.95920	.	0.337013	0.37393	N	0.002105	T	0.14960	0.0361	L	0.50333	1.59	0.80722	D	1	P;P;P;P	0.44090	0.608;0.826;0.608;0.731	B;B;B;B	0.44224	0.235;0.299;0.235;0.444	T	0.00162	-1.1971	10	0.52906	T	0.07	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	1064;991;1071;995	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	F	1071;995;1071;991;991	ENSP00000281537:S1071F;ENSP00000382890:S995F	ENSP00000281537:S1071F	S	-	2	0	TJP1	27798426	1.000000	0.71417	0.934000	0.37439	0.972000	0.66771	9.221000	0.95188	2.802000	0.96397	0.563000	0.77884	TCT		0.488	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
MTMR10	54893	broad.mit.edu	37	15	31269123	31269123	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:31269123T>G	ENST00000435680.1	-	3	254	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	MTMR10_ENST00000563714.1_5'UTR|MTMR10_ENST00000425768.1_Missense_Mutation_p.K53Q|MTMR10_ENST00000314404.8_5'Flank	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	53							phosphatase activity (GO:0016791)	p.K53Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GCAATGCATTTTCTCACAAAA	0.353																																					p.K53Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A157C	15						.						116.0	113.0	114.0					15																	31269123		1853	4080	5933	29056415	SO:0001583	missense	54893	exon3			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.157A>C	15.37:g.31269123T>G	ENSP00000402537:p.Lys53Gln		29056415	NM_017762	Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651481	0.88056	.	.	ENSG00000166912	ENST00000435680;ENST00000425768	D;D	0.82711	-1.64;-1.64	5.47	5.47	0.80525	.	.	.	.	.	D	0.90219	0.6942	M	0.71206	2.165	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	D	0.91168	0.4966	9	0.66056	D	0.02	.	15.559	0.76223	0.0:0.0:0.0:1.0	.	53	Q9NXD2	MTMRA_HUMAN	Q	53	ENSP00000402537:K53Q;ENSP00000412314:K53Q	ENSP00000412314:K53Q	K	-	1	0	MTMR10	29056415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.080000	0.62538	0.533000	0.62120	AAA		0.353	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762	
ARHGAP11A	9824	broad.mit.edu	37	15	32926204	32926204	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:32926204C>T	ENST00000361627.3	+	10	2028	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R436C|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R247C|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R247C|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R408C	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	436					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.R436C(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)		AAGATCTCTGCGTTTGAAATT	0.333																																					p.R436C	Colon(45;757 1134 30003 36652)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1306T	15						.						38.0	37.0	37.0					15																	32926204		2201	4300	6501	30713496	SO:0001583	missense	9824	exon10			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.1306C>T	15.37:g.32926204C>T	ENSP00000355090:p.Arg436Cys		30713496	NM_199357	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	29.5	5.009399	0.93346	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	D;D	0.92495	-3.05;-3.05	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000009	D	0.96228	0.8770	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96254	0.9185	10	0.87932	D	0	.	19.7815	0.96417	0.0:1.0:0.0:0.0	.	436;247	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	C	436;247	ENSP00000355090:R436C;ENSP00000440073:R247C	ENSP00000355090:R436C	R	+	1	0	ARHGAP11A	30713496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.387000	0.79785	2.746000	0.94184	0.655000	0.94253	CGT		0.333	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
FMN1	342184	broad.mit.edu	37	15	33091014	33091014	+	Missense_Mutation	SNP	G	G	T	rs368124119		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:33091014G>T	ENST00000559047.1	-	16	4120	c.4121C>A	c.(4120-4122)tCt>tAt	p.S1374Y	FMN1_ENST00000334528.9_Missense_Mutation_p.S1151Y|FMN1_ENST00000561249.1_Missense_Mutation_p.S1276Y			Q68DA7	FMN1_HUMAN	formin 1	1374	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.S1151Y(1)|p.S1374Y(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)		CCTTTCTTTAGATATGTTTTT	0.403																																					p.S1151Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3452A	15						.						122.0	109.0	113.0					15																	33091014		1831	4087	5918	30878306	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.4121C>A	15.37:g.33091014G>T	ENSP00000454047:p.Ser1374Tyr		30878306	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.187871	0.78789	.	.	ENSG00000248905	ENST00000334528	T	0.63580	-0.05	6.08	6.08	0.98989	.	0.051251	0.85682	D	0.000000	T	0.77458	0.4133	L	0.55481	1.735	.	.	.	D	0.76494	0.999	D	0.76575	0.988	T	0.75243	-0.3386	9	0.52906	T	0.07	.	20.6647	0.99678	0.0:0.0:1.0:0.0	.	1151	Q68DA7-5	.	Y	1151	ENSP00000333950:S1151Y	ENSP00000333950:S1151Y	S	-	2	0	FMN1	30878306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.396000	0.97270	2.890000	0.99128	0.655000	0.94253	TCT		0.403	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
FMN1	342184	broad.mit.edu	37	15	33261285	33261285	+	Missense_Mutation	SNP	C	C	T	rs372119445		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:33261285C>T	ENST00000559047.1	-	5	2616	c.2617G>A	c.(2617-2619)Gca>Aca	p.A873T	FMN1_ENST00000334528.9_Missense_Mutation_p.A650T|SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000561249.1_Missense_Mutation_p.A775T			Q68DA7	FMN1_HUMAN	formin 1	873	FH1.|Pro-rich.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A650T(1)|p.A873T(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)		GGGATGGATGCGGGAGGCGGA	0.612																																					p.A650T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1948A	15						.	C	THR/ALA	1,4021		0,1,2010	69.0	64.0	66.0		1948	4.2	0.4	15		66	1,8329		0,1,4164	no	missense	FMN1	NM_001103184.2	58	0,2,6174	TT,TC,CC		0.012,0.0249,0.0162	probably-damaging	650/1197	33261285	2,12350	2011	4165	6176	31048577	SO:0001583	missense	342184	exon4			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.2617G>A	15.37:g.33261285C>T	ENSP00000454047:p.Ala873Thr		31048577	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.565769	0.00903	2.49E-4	1.2E-4	ENSG00000248905	ENST00000334528	T	0.39406	1.08	4.17	4.17	0.49024	.	0.233781	0.35615	N	0.003100	T	0.32971	0.0847	N	0.08118	0	.	.	.	D	0.60160	0.987	P	0.53988	0.739	T	0.47686	-0.9098	9	0.46703	T	0.11	.	10.4484	0.44507	0.0:0.7359:0.2641:0.0	.	650	Q68DA7-5	.	T	650	ENSP00000333950:A650T	ENSP00000333950:A650T	A	-	1	0	FMN1	31048577	0.065000	0.20965	0.362000	0.25862	0.004000	0.04260	0.602000	0.24134	2.150000	0.67090	0.555000	0.69702	GCA		0.612	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	33955111	33955111	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:33955111T>G	ENST00000389232.4	+	35	5450	c.5380T>G	c.(5380-5382)Ttg>Gtg	p.L1794V	RYR3_ENST00000415757.3_Missense_Mutation_p.L1794V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1794	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L1794V(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)		TGTCAAAGGCTTGTTGCAGAC	0.537																																					p.L1794V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5380G	15						.						179.0	188.0	185.0					15																	33955111		2035	4199	6234	31742403	SO:0001583	missense	6263	exon35				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.5380T>G	15.37:g.33955111T>G	ENSP00000373884:p.Leu1794Val		31742403	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377956	0.61735	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74106	-0.59;-0.81	4.98	1.28	0.21552	.	0.000000	0.64402	D	0.000012	D	0.83422	0.5251	M	0.79614	2.46	0.45930	D	0.998765	D;D	0.76494	0.994;0.999	D;D	0.85130	0.954;0.997	T	0.82196	-0.0577	10	0.87932	D	0	.	9.756	0.40504	0.0:0.1652:0.0:0.8348	.	1794;1794	Q15413-2;Q15413	.;RYR3_HUMAN	V	1794	ENSP00000373884:L1794V;ENSP00000399610:L1794V	ENSP00000354735:L1794V	L	+	1	2	RYR3	31742403	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.989000	0.49393	0.113000	0.18004	0.460000	0.39030	TTG		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34047332	34047332	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:34047332G>A	ENST00000389232.4	+	58	8536	c.8466G>A	c.(8464-8466)aaG>aaA	p.K2822K	RYR3_ENST00000415757.3_Silent_p.K2822K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2822					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.K2822K(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)		AGTTCTTGAAGAAGATCCTGA	0.398																																					p.K2822K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8466A	15						.						92.0	93.0	93.0					15																	34047332		1890	4115	6005	31834624	SO:0001819	synonymous_variant	6263	exon58				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.8466G>A	15.37:g.34047332G>A			31834624	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34072478	34072478	+	Silent	SNP	G	G	A	rs199647896		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:34072478G>A	ENST00000389232.4	+	65	9274	c.9204G>A	c.(9202-9204)gaG>gaA	p.E3068E	RYR3_ENST00000415757.3_Silent_p.E3068E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3068					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.E3068E(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)		CATTCCTGGAGCCCACCCTTA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19882	0.0		0.001	False		,,,				2504	0.0				p.E3068E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9204A	15						.						68.0	67.0	67.0					15																	34072478		1936	4150	6086	31859770	SO:0001819	synonymous_variant	6263	exon65				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.9204G>A	15.37:g.34072478G>A			31859770	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
CHRM5	1133	broad.mit.edu	37	15	34355302	34355302	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:34355302T>C	ENST00000383263.5	+	3	1054	c.384T>C	c.(382-384)cgT>cgC	p.R128R	CHRM5_ENST00000557872.1_Silent_p.R128R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	128					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.R128R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTTTTGACCGTTACTTTTCCA	0.532																																					p.R128R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T384C	15						.						107.0	97.0	100.0					15																	34355302		2201	4298	6499	32142594	SO:0001819	synonymous_variant	1133	exon3				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.384T>C	15.37:g.34355302T>C			32142594	NM_012125	Q96RG7	Silent	SNP	ENST00000383263.5	37	CCDS10031.1																																																																																				0.532	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2		
SLC12A6	9990	broad.mit.edu	37	15	34547474	34547474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:34547474C>A	ENST00000354181.3	-	8	1357	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E274*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E280*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E101*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E238*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E289*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E101*|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E230*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E230*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E289*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	289					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.E238*(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGAAAGATTTCAATGGCACCA	0.423																																					p.E274X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G820T	15						.						120.0	129.0	126.0					15																	34547474		2201	4298	6499	32334766	SO:0001587	stop_gained	9990	exon6			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.865G>T	15.37:g.34547474C>A	ENSP00000346112:p.Glu289*		32334766	NM_001042497	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	40	8.206929	0.98706	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7742	0.88502	0.0:1.0:0.0:0.0	.	.	.	.	X	238;274;280;230;230;101	.	ENSP00000290209:E238X	E	-	1	0	SLC12A6	32334766	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.724000	0.93272	0.655000	0.94253	GAA		0.423	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135	
ZNF770	54989	broad.mit.edu	37	15	35274903	35274903	+	Missense_Mutation	SNP	G	G	A	rs35764015		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:35274903G>A	ENST00000356321.4	-	3	1077	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	245					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R245W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AAAAGAGCCCGAAAAGCCTTA	0.363																																					p.R245W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C733T	15						.						42.0	44.0	43.0					15																	35274903		2201	4297	6498	33062195	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.733C>T	15.37:g.35274903G>A	ENSP00000348673:p.Arg245Trp		33062195	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	7.312	0.615163	0.14129	.	.	ENSG00000198146	ENST00000356321	T	0.10099	2.91	4.84	4.84	0.62591	.	0.701798	0.12987	N	0.422767	T	0.06554	0.0168	N	0.08118	0	0.23704	N	0.997067	P	0.51653	0.947	B	0.40534	0.332	T	0.23226	-1.0194	10	0.87932	D	0	-0.0257	11.2661	0.49112	0.1312:0.0:0.8688:0.0	.	245	Q6IQ21	ZN770_HUMAN	W	245	ENSP00000348673:R245W	ENSP00000348673:R245W	R	-	1	2	ZNF770	33062195	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	2.094000	0.41719	2.501000	0.84356	0.555000	0.69702	CGG		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
ZNF770	54989	broad.mit.edu	37	15	35275374	35275374	+	Missense_Mutation	SNP	G	G	A	rs144467698		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:35275374G>A	ENST00000356321.4	-	3	606	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	88					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R88C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTAAAGTGACGCTGACAAATA	0.363																																					p.R88C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C262T	15						.	G	CYS/ARG	0,4402		0,0,2201	84.0	86.0	85.0		262	4.9	1.0	15	dbSNP_134	85	2,8594	2.2+/-6.3	0,2,4296	no	missense	ZNF770	NM_014106.3	180	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	88/692	35275374	2,12996	2201	4298	6499	33062666	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.262C>T	15.37:g.35275374G>A	ENSP00000348673:p.Arg88Cys		33062666	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204647	0.38905	0.0	2.33E-4	ENSG00000198146	ENST00000356321	T	0.16324	2.35	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.184142	0.36519	N	0.002549	T	0.34716	0.0907	L	0.55743	1.74	0.39240	D	0.963832	D	0.89917	1.0	D	0.68192	0.956	T	0.10706	-1.0618	10	0.87932	D	0	-3.1095	12.7821	0.57483	0.0:0.0:0.8252:0.1748	.	88	Q6IQ21	ZN770_HUMAN	C	88	ENSP00000348673:R88C	ENSP00000348673:R88C	R	-	1	0	ZNF770	33062666	0.987000	0.35691	1.000000	0.80357	0.976000	0.68499	3.100000	0.50275	2.515000	0.84797	0.655000	0.94253	CGT		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
C15orf41	84529	broad.mit.edu	37	15	36950045	36950045	+	Silent	SNP	G	G	A	rs372337437		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:36950045G>A	ENST00000566621.1	+	5	535	c.285G>A	c.(283-285)gcG>gcA	p.A95A	C15orf41_ENST00000338183.4_5'UTR|C15orf41_ENST00000567389.1_5'UTR|C15orf41_ENST00000562877.1_5'UTR|C15orf41_ENST00000437989.2_Silent_p.A95A|C15orf41_ENST00000569302.1_Silent_p.A95A|RP11-16L14.2_ENST00000565366.1_RNA	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	95								p.A95A(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		TGGACTATGCGCCCTCATTAA	0.403																																					p.A95A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G285A	15						.	G	,	0,3678		0,0,1839	67.0	63.0	64.0		285,	1.8	1.0	15		64	1,8159		0,1,4079	no	coding-synonymous,utr-5	C15orf41	NM_001130010.1,NM_032499.4	,	0,1,5918	AA,AG,GG		0.0123,0.0,0.0084	,	95/282,	36950045	1,11837	1839	4080	5919	34737337	SO:0001819	synonymous_variant	84529	exon5			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.285G>A	15.37:g.36950045G>A			34737337	NM_001130010	B2RD87	Silent	SNP	ENST00000566621.1	37	CCDS45215.1																																																																																				0.403	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	NM_032499	
MEIS2	4212	broad.mit.edu	37	15	37188835	37188835	+	Nonsense_Mutation	SNP	G	G	A	rs367563077		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:37188835G>A	ENST00000561208.1	-	10	1448	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	MEIS2_ENST00000340545.5_Nonsense_Mutation_p.R331*|MEIS2_ENST00000338564.5_Nonsense_Mutation_p.R344*|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000424352.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000444725.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.R256*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.R344*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.R198*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.R331*|MEIS2_ENST00000382766.2_Nonsense_Mutation_p.R344*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.R256*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.R331*			O14770	MEIS2_HUMAN	Meis homeobox 2	344	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R344*(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTGCCTGCTCGATTTGACTGG	0.398																																					p.R344X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1030T	15						.						179.0	154.0	163.0					15																	37188835		2201	4297	6498	34976127	SO:0001587	stop_gained	4212	exon10			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1030C>T	15.37:g.37188835G>A	ENSP00000453793:p.Arg344*		34976127	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Nonsense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	40	8.199426	0.98701	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3478	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	344;344;344;344;344;331;331;256;198	.	ENSP00000219869:R198X	R	-	1	2	MEIS2	34976127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CGA		0.398	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
FAM98B	283742	broad.mit.edu	37	15	38765780	38765780	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:38765780A>G	ENST00000491535.1	+	5	614	c.606A>G	c.(604-606)gaA>gaG	p.E202E	FAM98B_ENST00000397609.2_Silent_p.E202E	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	202						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)	p.E202E(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TAAATTCAGAACAGGCGGTAA	0.289																																					p.E202E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A606G	15						.						39.0	40.0	40.0					15																	38765780		2200	4289	6489	36553072	SO:0001819	synonymous_variant	283742	exon5				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.606A>G	15.37:g.38765780A>G			36553072	NM_173611	A8MUW5|Q8N935	Silent	SNP	ENST00000491535.1	37	CCDS42015.1																																																																																				0.289	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
FSIP1	161835	broad.mit.edu	37	15	39910011	39910011	+	Missense_Mutation	SNP	G	G	C	rs545023586		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:39910011G>C	ENST00000350221.3	-	11	1833	c.1624C>G	c.(1624-1626)Ctg>Gtg	p.L542V		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	542								p.L542V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATACCATACAGTGGATCATCT	0.413																																					p.L542V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1624G	15						.						105.0	99.0	101.0					15																	39910011		2200	4297	6497	37697303	SO:0001583	missense	161835	exon11			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1624C>G	15.37:g.39910011G>C	ENSP00000280236:p.Leu542Val		37697303	NM_152597	Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	8.853	0.945061	0.18356	.	.	ENSG00000150667	ENST00000350221	T	0.27557	1.66	4.84	0.832	0.18867	.	0.111141	0.33610	N	0.004722	T	0.17408	0.0418	L	0.32530	0.975	0.26343	N	0.97734	P	0.36144	0.539	B	0.36134	0.218	T	0.08126	-1.0737	9	.	.	.	-4.5846	3.4231	0.07401	0.3901:0.1988:0.4111:0.0	.	542	Q8NA03	FSIP1_HUMAN	V	542	ENSP00000280236:L542V	.	L	-	1	2	FSIP1	37697303	0.995000	0.38212	0.934000	0.37439	0.081000	0.17604	1.512000	0.35812	0.334000	0.23590	0.591000	0.81541	CTG		0.413	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597	
BUB1B	701	broad.mit.edu	37	15	40488874	40488874	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:40488874T>G	ENST00000287598.6	+	9	1382	c.1187T>G	c.(1186-1188)aTg>aGg	p.M396R	BUB1B_ENST00000412359.3_Missense_Mutation_p.M410R	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	396					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.M396R(1)		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)		AAAGAGAAGATGATGTATTGT	0.433			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																												p.M396R		yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1187G	15						.						107.0	107.0	107.0					15																	40488874		2203	4300	6503	38276166	SO:0001583	missense	701	exon9	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.1187T>G	15.37:g.40488874T>G	ENSP00000287598:p.Met396Arg		38276166	NM_001211	B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688756	0.48097	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14391	2.51;2.51	5.58	5.58	0.84498	.	0.283163	0.35378	N	0.003243	T	0.13114	0.0318	L	0.54323	1.7	0.30894	N	0.729994	B;P	0.34412	0.446;0.453	B;B	0.33750	0.169;0.081	T	0.08186	-1.0734	10	0.12430	T	0.62	-3.4531	10.88	0.46933	0.0:0.0733:0.0:0.9267	.	410;396	O60566-3;O60566	.;BUB1B_HUMAN	R	396;410;342	ENSP00000287598:M396R;ENSP00000398470:M410R	ENSP00000287598:M396R	M	+	2	0	BUB1B	38276166	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.095000	0.41729	2.123000	0.65237	0.459000	0.35465	ATG		0.433	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4		
DISP2	85455	broad.mit.edu	37	15	40662302	40662302	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:40662302G>A	ENST00000267889.3	+	8	4076	c.3989G>A	c.(3988-3990)cGa>cAa	p.R1330Q	LINC00594_ENST00000561261.1_lincRNA|RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1330					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.R1330Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTCCTTGAGCGAGGCCAGCTC	0.612																																					p.R1330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3989A	15						.						85.0	87.0	87.0					15																	40662302		2203	4300	6503	38449594	SO:0001583	missense	85455	exon8			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3989G>A	15.37:g.40662302G>A	ENSP00000267889:p.Arg1330Gln		38449594	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663553	0.88251	.	.	ENSG00000140323	ENST00000267889	T	0.13657	2.57	5.2	5.2	0.72013	.	0.057426	0.64402	D	0.000002	T	0.26484	0.0647	L	0.29908	0.895	0.36384	D	0.862117	D	0.89917	1.0	D	0.65233	0.933	T	0.06917	-1.0800	10	0.56958	D	0.05	-34.4487	18.9211	0.92525	0.0:0.0:1.0:0.0	.	1330	A7MBM2	DISP2_HUMAN	Q	1330	ENSP00000267889:R1330Q	ENSP00000267889:R1330Q	R	+	2	0	DISP2	38449594	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.178000	0.50879	2.706000	0.92434	0.561000	0.74099	CGA		0.612	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
KNSTRN	90417	broad.mit.edu	37	15	40685748	40685748	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:40685748A>C	ENST00000249776.8	+	9	1016	c.901A>C	c.(901-903)Aat>Cat	p.N301H	KNSTRN_ENST00000608100.1_Missense_Mutation_p.N223H|KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000448395.2_3'UTR	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.N301H(1)									CAATCAAGTAAATGATTTAAC	0.413																																					p.N301H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A901C	15						.						125.0	113.0	117.0					15																	40685748		1888	4105	5993	38473040	SO:0001583	missense	90417	exon9			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.901A>C	15.37:g.40685748A>C	ENSP00000249776:p.Asn301His		38473040	NM_033286		Missense_Mutation	SNP	ENST00000249776.8	37	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002088	0.35320	.	.	ENSG00000128944	ENST00000249776	T	0.26067	1.76	5.02	2.72	0.32119	.	0.758999	0.12750	N	0.442280	T	0.15522	0.0374	N	0.24115	0.695	0.24200	N	0.995513	B	0.14012	0.009	B	0.14023	0.01	T	0.17379	-1.0371	10	0.52906	T	0.07	-4.3806	4.7744	0.13171	0.7111:0.193:0.0959:0.0	.	301	Q9Y448	T4AF1_HUMAN	H	301	ENSP00000249776:N301H	ENSP00000249776:N301H	N	+	1	0	C15orf23	38473040	0.996000	0.38824	0.552000	0.28243	0.245000	0.25701	1.857000	0.39399	1.023000	0.39654	0.529000	0.55759	AAT		0.413	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761	
C15orf57	90416	broad.mit.edu	37	15	40849512	40849512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:40849512G>A	ENST00000358005.3	-	3	577	c.304C>T	c.(304-306)Cga>Tga	p.R102*	C15orf57_ENST00000560305.1_Nonsense_Mutation_p.R102*|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000558871.1_Nonsense_Mutation_p.R102*|C15orf57_ENST00000558750.1_Nonsense_Mutation_p.R111*|C15orf57_ENST00000558113.1_Nonsense_Mutation_p.R102*|C15orf57_ENST00000561011.1_Nonsense_Mutation_p.R102*|C15orf57_ENST00000416810.2_Nonsense_Mutation_p.R102*|C15orf57_ENST00000559911.1_Nonsense_Mutation_p.R102*	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	102								p.R102*(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GCCAGAGTTCGAAGCATGTCC	0.438																																					p.R102X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C304T	15						.						159.0	140.0	146.0					15																	40849512		2203	4300	6503	38636804	SO:0001587	stop_gained	90416	exon3			BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.304C>T	15.37:g.40849512G>A	ENSP00000350695:p.Arg102*		38636804	NM_001080792	A8KAL4|Q86TC4|Q8N788|Q8NAR7	Nonsense_Mutation	SNP	ENST00000358005.3	37	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856286	0.91355	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	.	.	.	5.7	5.7	0.88788	.	0.132361	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2111	19.8354	0.96655	0.0:0.0:1.0:0.0	.	.	.	.	X	102;111	.	ENSP00000350695:R102X	R	-	1	2	C15orf57	38636804	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.952000	0.75989	2.686000	0.91538	0.555000	0.69702	CGA		0.438	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849	
CASC5	57082	broad.mit.edu	37	15	40914005	40914005	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:40914005G>A	ENST00000346991.5	+	11	2011	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CASC5_ENST00000399668.2_Missense_Mutation_p.E515K|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	541	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.E541K(2)		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)		ACCAACACCCGAAAAAGAAAT	0.348																																					p.E541K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1621A	15						.						63.0	60.0	61.0					15																	40914005		1886	4115	6001	38701297	SO:0001583	missense	57082	exon11			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.1621G>A	15.37:g.40914005G>A	ENSP00000335463:p.Glu541Lys		38701297	NM_170589	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.203917	0.38905	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.15139	2.45;2.45	5.21	3.34	0.38264	.	0.361802	0.23795	N	0.044482	T	0.16471	0.0396	M	0.73962	2.25	0.26653	N	0.972067	P;P;P	0.46578	0.88;0.74;0.868	B;B;B	0.34180	0.177;0.127;0.127	T	0.16247	-1.0409	10	0.38643	T	0.18	.	9.3359	0.38049	0.1733:0.0:0.8267:0.0	.	515;541;515	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	K	541;515;515	ENSP00000335463:E541K;ENSP00000382576:E515K	ENSP00000260369:E515K	E	+	1	0	CASC5	38701297	.	.	0.998000	0.56505	0.355000	0.29361	.	.	0.772000	0.33382	0.557000	0.71058	GAA		0.348	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
SPTBN5	51332	broad.mit.edu	37	15	42147124	42147124	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:42147124G>T	ENST00000320955.6	-	56	9701	c.9474C>A	c.(9472-9474)ggC>ggA	p.G3158G	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3158					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.G3158G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGGCCTGGCCCAGGCTCT	0.582																																					p.G3123G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9369A	15						.						60.0	62.0	62.0					15																	42147124		1939	4136	6075	39934416	SO:0001819	synonymous_variant	51332	exon56			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9474C>A	15.37:g.42147124G>T			39934416	NM_016642		Silent	SNP	ENST00000320955.6	37																																																																																					0.582	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
VPS39	23339	broad.mit.edu	37	15	42479509	42479509	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:42479509G>T	ENST00000348544.4	-	8	526	c.527C>A	c.(526-528)tCt>tAt	p.S176Y	VPS39_ENST00000318006.5_Missense_Mutation_p.S165Y			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	176	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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.S165Y(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)		CACACAGATAGAATTTTCACA	0.353																																					p.S165Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C494A	15						.						83.0	81.0	82.0					15																	42479509		2203	4299	6502	40266801	SO:0001583	missense	23339	exon7			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.527C>A	15.37:g.42479509G>T	ENSP00000335193:p.Ser176Tyr		40266801	NM_015289	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293281	0.80914	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.14640	2.49;2.49	5.95	5.95	0.96441	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.49640	1.575	0.80722	D	1	P;B	0.37423	0.594;0.287	B;B	0.38921	0.285;0.188	T	0.02766	-1.1113	10	0.02654	T	1	-9.4469	20.3931	0.98965	0.0:0.0:1.0:0.0	.	176;165	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Y	165;176	ENSP00000326534:S165Y;ENSP00000335193:S176Y	ENSP00000326534:S165Y	S	-	2	0	VPS39	40266801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.824000	0.97209	0.655000	0.94253	TCT		0.353	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289	
HAUS2	55142	broad.mit.edu	37	15	42850427	42850427	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:42850427C>A	ENST00000260372.3	+	2	188	c.125C>A	c.(124-126)tCt>tAt	p.S42Y	HAUS2_ENST00000568876.1_Intron|HAUS2_ENST00000568846.2_Intron	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	42					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						AAAACAGTTTCTTGTTTTGTG	0.308																																					p.S42Y												.	.	0			c.C125A	15						.						60.0	56.0	57.0					15																	42850427		2202	4299	6501	40637719	SO:0001583	missense	55142	exon2			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.125C>A	15.37:g.42850427C>A	ENSP00000260372:p.Ser42Tyr		40637719	NM_018097	C9JH36|Q9H9B3	Missense_Mutation	SNP	ENST00000260372.3	37	CCDS10090.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455743	0.63401	.	.	ENSG00000137814	ENST00000260372	T	0.44083	0.93	5.95	5.03	0.67393	.	0.822426	0.10635	N	0.651643	T	0.44008	0.1273	L	0.44542	1.39	0.80722	D	1	B	0.33919	0.432	B	0.37304	0.246	T	0.33752	-0.9856	10	0.72032	D	0.01	-9.7373	15.4097	0.74908	0.1405:0.8594:0.0:0.0	.	42	Q9NVX0	HAUS2_HUMAN	Y	42	ENSP00000260372:S42Y	ENSP00000260372:S42Y	S	+	2	0	HAUS2	40637719	0.424000	0.25490	0.820000	0.32676	0.908000	0.53690	3.381000	0.52455	1.501000	0.48654	0.655000	0.94253	TCT		0.308	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253173.1	NM_018097	
CDAN1	146059	broad.mit.edu	37	15	43021279	43021279	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:43021279G>A	ENST00000356231.3	-	19	2610	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	863					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R863C(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		ACGGTCCGGCGCAAGGAGGGC	0.582																																					p.R863C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2587T	15						.						89.0	90.0	90.0					15																	43021279		2203	4299	6502	40808571	SO:0001583	missense	146059	exon19			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2587C>T	15.37:g.43021279G>A	ENSP00000348564:p.Arg863Cys		40808571	NM_138477	Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475578	0.84640	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.84660	-1.88	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.978	D	0.93715	0.7027	10	0.87932	D	0	-13.6731	18.6595	0.91468	0.0:0.0:1.0:0.0	.	863;861	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	C	863;861	ENSP00000348564:R863C	ENSP00000267892:R861C	R	-	1	0	CDAN1	40808571	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.254000	0.78329	2.404000	0.81709	0.462000	0.41574	CGC		0.582	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300	
TMEM62	80021	broad.mit.edu	37	15	43426537	43426537	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:43426537T>A	ENST00000260403.2	+	2	542	c.263T>A	c.(262-264)aTc>aAc	p.I88N		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	88						integral component of membrane (GO:0016021)		p.I88N(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)		ACTATTGACATCATTCAACCA	0.512																																					p.I88N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T263A	15						.						108.0	91.0	97.0					15																	43426537		2203	4299	6502	41213829	SO:0001583	missense	80021	exon2			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.263T>A	15.37:g.43426537T>A	ENSP00000260403:p.Ile88Asn		41213829	NM_024956	Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145049	0.77888	.	.	ENSG00000137842	ENST00000260403	T	0.53423	0.62	4.97	3.85	0.44370	.	0.251403	0.41194	D	0.000935	T	0.56426	0.1984	L	0.59436	1.845	0.39965	D	0.974713	D	0.67145	0.996	P	0.61201	0.885	T	0.54774	-0.8243	10	0.30854	T	0.27	-3.0947	9.067	0.36469	0.0:0.0843:0.0:0.9157	.	88	Q0P6H9	TMM62_HUMAN	N	88	ENSP00000260403:I88N	ENSP00000260403:I88N	I	+	2	0	TMEM62	41213829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.372000	0.52387	0.915000	0.36847	-0.256000	0.11100	ATC		0.512	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956	
TGM5	9333	broad.mit.edu	37	15	43544999	43544999	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:43544999G>A	ENST00000220420.5	-	6	827	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TGM5_ENST00000349114.4_Missense_Mutation_p.R192C	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	274					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.R274C(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)	TGCCCGTAGCGCACGGGCTGG	0.582																																					p.R192C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C574T	15						.						76.0	73.0	74.0					15																	43544999		2202	4299	6501	41332291	SO:0001583	missense	9333	exon5			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.820C>T	15.37:g.43544999G>A	ENSP00000220420:p.Arg274Cys		41332291	NM_004245	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334291	0.41297	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.57595	0.39;0.39	4.88	1.2	0.21068	Transglutaminase-like (2);	0.146541	0.40064	N	0.001190	T	0.58538	0.2129	L	0.53729	1.69	0.40067	D	0.975968	D;D	0.89917	1.0;0.997	D;P	0.64042	0.921;0.873	T	0.58901	-0.7554	10	0.87932	D	0	-8.2033	5.8747	0.18822	0.098:0.0:0.4086:0.4934	.	192;274	O43548-2;O43548	.;TGM5_HUMAN	C	274;192;273	ENSP00000220420:R274C;ENSP00000220419:R192C	ENSP00000220420:R274C	R	-	1	0	TGM5	41332291	0.043000	0.20138	0.927000	0.36925	0.057000	0.15508	1.149000	0.31626	0.525000	0.28522	0.655000	0.94253	CGC		0.582	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
TP53BP1	7158	broad.mit.edu	37	15	43739654	43739654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:43739654C>A	ENST00000263801.3	-	13	2983	c.2731G>T	c.(2731-2733)Gaa>Taa	p.E911*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E916*|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E916*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E916*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	911					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.E911*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATATCACCTTCTTTAGGCAAA	0.338								Other conserved DNA damage response genes																													p.E911X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2731T	15						.						90.0	87.0	88.0					15																	43739654		2201	4298	6499	41526946	SO:0001587	stop_gained	7158	exon13			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2731G>T	15.37:g.43739654C>A	ENSP00000263801:p.Glu911*		41526946	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	41	9.099759	0.99066	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000414758	.	.	.	5.67	5.67	0.87782	.	0.059803	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.7871	19.1149	0.93334	0.0:1.0:0.0:0.0	.	.	.	.	X	911;916;916;916;55	.	ENSP00000263801:E911X	E	-	1	0	TP53BP1	41526946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.377000	0.59562	2.834000	0.97654	0.650000	0.86243	GAA		0.338	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43769884	43769884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:43769884C>A	ENST00000263801.3	-	8	1099	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E288*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E288*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E288*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	283					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.E283*(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCATAAGTTCTTGTGCAGAC	0.438								Other conserved DNA damage response genes																													p.E283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G847T	15						.						136.0	131.0	133.0					15																	43769884		2201	4298	6499	41557176	SO:0001587	stop_gained	7158	exon8			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.847G>T	15.37:g.43769884C>A	ENSP00000263801:p.Glu283*		41557176	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018456	0.54576	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.52	5.52	0.82312	.	0.332110	0.29133	N	0.013046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-7.1274	14.9409	0.70992	0.0:1.0:0.0:0.0	.	.	.	.	X	283;288;288;288;288	.	ENSP00000263801:E283X	E	-	1	0	TP53BP1	41557176	0.056000	0.20664	0.162000	0.22713	0.027000	0.11550	1.875000	0.39578	2.588000	0.87417	0.555000	0.69702	GAA		0.438	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
PDIA3	2923	broad.mit.edu	37	15	44059106	44059106	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:44059106C>A	ENST00000300289.5	+	8	1174	c.1026C>A	c.(1024-1026)ttC>ttA	p.F342L	PDIA3_ENST00000538521.1_Missense_Mutation_p.F322L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	342					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)			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)		AGGAGGAGTTCTCGTGAGTTG	0.403																																					p.F342L												.	.	0			c.C1026A	15						.						128.0	134.0	132.0					15																	44059106		2198	4298	6496	41846398	SO:0001583	missense	2923	exon8				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.1026C>A	15.37:g.44059106C>A	ENSP00000300289:p.Phe342Leu		41846398	NM_005313	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670907	0.96754	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.13420	2.59;2.59	5.74	5.74	0.90152	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.35773	-0.9775	10	0.72032	D	0.01	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	322;342	G5EA52;P30101	.;PDIA3_HUMAN	L	342;317;116;322	ENSP00000300289:F342L;ENSP00000438260:F322L	ENSP00000300289:F342L	F	+	3	2	PDIA3	41846398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.683000	0.91414	0.655000	0.94253	TTC		0.403	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313	
ELL3	80237	broad.mit.edu	37	15	44066403	44066403	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:44066403G>A	ENST00000319359.3	-	9	1656	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SERF2_ENST00000381359.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	339					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)	p.R339W(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTTCCTCGCCGAACTCTTTTA	0.507																																					p.R339W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1015T	15						.						92.0	88.0	89.0					15																	44066403		2198	4298	6496	41853695	SO:0001583	missense	80237	exon9			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.1015C>T	15.37:g.44066403G>A	ENSP00000320346:p.Arg339Trp		41853695	NM_025165	B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099927	0.56183	.	.	ENSG00000128886	ENST00000319359	T	0.23552	1.9	5.92	5.92	0.95590	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.104977	0.42821	D	0.000652	T	0.19446	0.0467	L	0.32530	0.975	0.31231	N	0.696298	P;P;P	0.37781	0.608;0.608;0.608	B;B;B	0.21917	0.037;0.037;0.037	T	0.16188	-1.0411	10	0.62326	D	0.03	-19.7297	17.8105	0.88614	0.0:0.0:1.0:0.0	.	339;339;293	B3KX08;Q9HB65;B3KQ66	.;ELL3_HUMAN;.	W	339	ENSP00000320346:R339W	ENSP00000320346:R339W	R	-	1	2	ELL3	41853695	0.039000	0.19947	1.000000	0.80357	0.509000	0.34042	1.206000	0.32321	2.809000	0.96659	0.557000	0.71058	CGG		0.507	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165	
EIF3J	8669	broad.mit.edu	37	15	44843634	44843634	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:44843634A>C	ENST00000535391.1	+	4	220	c.208A>C	c.(208-210)Aaa>Caa	p.K70Q	EIF3J_ENST00000261868.5_Missense_Mutation_p.K70Q|EIF3J_ENST00000424492.3_Intron					eukaryotic translation initiation factor 3, subunit J									p.K70Q(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TTTAGAGGTAAAAATTTCaga	0.284																																					p.K70Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A208C	15						.						20.0	23.0	22.0					15																	44843634		2172	4258	6430	42630926	SO:0001583	missense	8669	exon4			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.208A>C	15.37:g.44843634A>C	ENSP00000440221:p.Lys70Gln		42630926	NM_003758		Missense_Mutation	SNP	ENST00000535391.1	37		.	.	.	.	.	.	.	.	.	.	A	13.49	2.252453	0.39797	.	.	ENSG00000104131	ENST00000261868;ENST00000535391	T;T	0.49432	0.78;0.78	5.24	5.24	0.73138	.	0.044146	0.85682	D	0.000000	T	0.58250	0.2109	L	0.50993	1.605	0.35264	D	0.779887	D;D	0.62365	0.991;0.991	D;D	0.76071	0.987;0.987	T	0.61700	-0.7009	10	0.17369	T	0.5	.	11.4555	0.50179	1.0:0.0:0.0:0.0	.	70;70	B4DUI3;O75822	.;EIF3J_HUMAN	Q	70	ENSP00000261868:K70Q;ENSP00000440221:K70Q	ENSP00000261868:K70Q	K	+	1	0	EIF3J	42630926	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.007000	0.57093	2.192000	0.70111	0.533000	0.62120	AAA		0.284	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758	
SPG11	80208	broad.mit.edu	37	15	44890503	44890503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:44890503C>A	ENST00000261866.7	-	23	3977	c.3961G>T	c.(3961-3963)Gaa>Taa	p.E1321*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.E1321*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E1321*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E1321*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1321					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.E1321*(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)		CATGTACCTTCTTCTAAGAGA	0.378																																					p.E1321X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3961T	15						.						143.0	125.0	131.0					15																	44890503		2198	4298	6496	42677795	SO:0001587	stop_gained	80208	exon23				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3961G>T	15.37:g.44890503C>A	ENSP00000261866:p.Glu1321*		42677795	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	42	9.261395	0.99117	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.77	5.77	0.91146	.	0.059293	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.1387	0.86747	0.0:1.0:0.0:0.0	.	.	.	.	X	1321	.	ENSP00000261866:E1321X	E	-	1	0	SPG11	42677795	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.034000	0.64152	2.728000	0.93425	0.655000	0.94253	GAA		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
SPG11	80208	broad.mit.edu	37	15	44925797	44925797	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:44925797G>T	ENST00000261866.7	-	8	1657	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	SPG11_ENST00000558319.1_Missense_Mutation_p.F547L|SPG11_ENST00000559193.1_Missense_Mutation_p.F547L|SPG11_ENST00000427534.2_Missense_Mutation_p.F547L|SPG11_ENST00000535302.2_Missense_Mutation_p.F547L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	547					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.F547L(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)		TCTTCAAAAAGAAATTTACTG	0.313																																					p.F547L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1641A	15						.						56.0	59.0	58.0					15																	44925797		2198	4298	6496	42713089	SO:0001583	missense	80208	exon8				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.1641C>A	15.37:g.44925797G>T	ENSP00000261866:p.Phe547Leu		42713089	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821504	0.50633	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79554	-1.28;-1.04;-1.02	5.28	4.36	0.52297	.	0.063403	0.64402	D	0.000005	T	0.72479	0.3465	L	0.52126	1.63	0.40127	D	0.976679	B;P;B;B	0.45474	0.414;0.859;0.347;0.244	B;B;B;B	0.43728	0.188;0.429;0.111;0.141	T	0.67937	-0.5541	10	0.12103	T	0.63	.	7.5687	0.27894	0.0859:0.0:0.7483:0.1658	.	547;547;547;547	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	L	547	ENSP00000261866:F547L;ENSP00000445278:F547L;ENSP00000396110:F547L	ENSP00000261866:F547L	F	-	3	2	SPG11	42713089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.740000	0.38228	2.479000	0.83701	0.655000	0.94253	TTC		0.313	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
B2M	567	broad.mit.edu	37	15	45007641	45007641	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:45007641T>C	ENST00000558401.1	+	2	158	c.88T>C	c.(88-90)Tac>Cac	p.Y30H	B2M_ENST00000559916.1_Missense_Mutation_p.Y30H|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.Y30H	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	30	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.Y30H(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GATTCAGGTTTACTCACGTCA	0.418																																					p.Y30H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T88C	15						.						157.0	157.0	157.0					15																	45007641		2198	4298	6496	42794933	SO:0001583	missense	567	exon2			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.88T>C	15.37:g.45007641T>C	ENSP00000452780:p.Tyr30His		42794933	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198181	0.58126	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.08896	3.04	5.82	5.82	0.92795	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.92970	3.365	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.45396	-0.9264	10	0.87932	D	0	.	12.5757	0.56362	0.0:0.0:0.0:1.0	.	30;30;30	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	H	30	ENSP00000437604:Y30H	ENSP00000340858:Y30H	Y	+	1	0	B2M	42794933	1.000000	0.71417	0.316000	0.25252	0.096000	0.18686	5.777000	0.68931	2.222000	0.72286	0.533000	0.62120	TAC		0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
B2M	567	broad.mit.edu	37	15	45007781	45007781	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:45007781C>A	ENST00000558401.1	+	2	298	c.228C>A	c.(226-228)ttC>ttA	p.F76L	B2M_ENST00000559916.1_Missense_Mutation_p.F76L|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.F76L	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	76	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ACTTGTCTTTCAGCAAGGACT	0.428																																					p.F76L												.	.	0			c.C228A	15						.						209.0	208.0	208.0					15																	45007781		2198	4298	6496	42795073	SO:0001583	missense	567	exon2			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.228C>A	15.37:g.45007781C>A	ENSP00000452780:p.Phe76Leu		42795073	NM_004048	P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	ENST00000558401.1	37	CCDS10113.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968852	0.53614	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.08193	3.12	6.03	5.11	0.69529	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.87682	2.9	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.13575	-1.0504	10	0.87932	D	0	.	11.1276	0.48328	0.0:0.916:0.0:0.084	.	76;76	F5H6I0;P61769	.;B2MG_HUMAN	L	76	ENSP00000437604:F76L	ENSP00000340858:F76L	F	+	3	2	B2M	42795073	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	2.321000	0.43805	1.558000	0.49541	0.655000	0.94253	TTC		0.428	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048	
TRIM69	140691	broad.mit.edu	37	15	45059656	45059656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:45059656G>T	ENST00000559390.1	+	8	2117	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	TRIM69_ENST00000561043.1_Nonsense_Mutation_p.E160*|TRIM69_ENST00000338264.4_Nonsense_Mutation_p.E238*|TRIM69_ENST00000558329.1_Nonsense_Mutation_p.E176*|TRIM69_ENST00000329464.4_Nonsense_Mutation_p.E397*|TRIM69_ENST00000560442.1_Nonsense_Mutation_p.E193*|TRIM69_ENST00000558173.1_Nonsense_Mutation_p.E193*			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	397	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E397*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGTTGTCAGAGAATCCATCAT	0.468																																					p.E397X	Pancreas(84;519 1450 1802 20427 34706)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1189T	15						.						99.0	100.0	100.0					15																	45059656		2198	4298	6496	42846948	SO:0001587	stop_gained	140691	exon7			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1189G>T	15.37:g.45059656G>T	ENSP00000453177:p.Glu397*		42846948	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Nonsense_Mutation	SNP	ENST00000559390.1	37	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	37	6.538627	0.97646	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.615	0.84904	0.0:0.0:1.0:0.0	.	.	.	.	X	397;238	.	ENSP00000332284:E397X	E	+	1	0	TRIM69	42846948	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.760000	0.85248	2.593000	0.87608	0.655000	0.94253	GAA		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
SORD	6652	broad.mit.edu	37	15	45365692	45365692	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:45365692C>A	ENST00000267814.9	+	9	1218	c.1038C>A	c.(1036-1038)atC>atA	p.I346I	SORD_ENST00000559562.1_3'UTR|RP11-109D20.2_ENST00000560967.1_RNA|SORD_ENST00000558580.1_Silent_p.I325I	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	346					fructose biosynthetic process (GO:0046370)|glucose metabolic process (GO:0006006)|L-xylitol catabolic process (GO:0051160)|L-xylitol metabolic process (GO:0051164)|sorbitol catabolic process (GO:0006062)|sperm motility (GO:0030317)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)	carbohydrate binding (GO:0030246)|L-iditol 2-dehydrogenase activity (GO:0003939)|NAD binding (GO:0051287)|zinc ion binding (GO:0008270)	p.I346I(1)		endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)		GGTTGAAAATCATGCTCAAGT	0.498																																					p.I346I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1038A	15						.						34.0	43.0	40.0					15																	45365692		2111	4293	6404	43152984	SO:0001819	synonymous_variant	6652	exon9				CCDS10116.1	15q15-q21.1	2012-10-02			ENSG00000140263	ENSG00000140263	1.1.1.14		11184	protein-coding gene	gene with protein product		182500				7782086	Standard	NM_003104		Approved		uc001zul.4	Q00796	OTTHUMG00000131265	ENST00000267814.9:c.1038C>A	15.37:g.45365692C>A			43152984	NM_003104	B2R655|B7Z3A6|J3JZZ5|Q16682|Q9UMD6	Silent	SNP	ENST00000267814.9	37	CCDS10116.1																																																																																				0.498	SORD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254033.3		
DUOX2	50506	broad.mit.edu	37	15	45396172	45396172	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:45396172G>T	ENST00000603300.1	-	20	2842	c.2640C>A	c.(2638-2640)ttC>ttA	p.F880L	DUOX2_ENST00000389039.6_Missense_Mutation_p.F880L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	880	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.F880L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCATGGTGAAGAATTCGTCCT	0.488																																					p.F880L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2640A	15						.						149.0	129.0	135.0					15																	45396172		2198	4298	6496	43183464	SO:0001583	missense	50506	exon20			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2640C>A	15.37:g.45396172G>T	ENSP00000475084:p.Phe880Leu		43183464	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343544	0.61073	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.23	4.31	0.51392	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.16016	0.355	0.53688	D	0.999978	P;P	0.50710	0.84;0.938	P;P	0.60415	0.823;0.874	T	0.32402	-0.9908	9	0.13470	T	0.59	-22.8733	9.0256	0.36227	0.2327:0.0:0.7673:0.0	.	880;442	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	880	.	ENSP00000373691:F880L	F	-	3	2	DUOX2	43183464	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.491000	0.35583	1.318000	0.45170	0.563000	0.77884	TTC		0.488	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
FBN1	2200	broad.mit.edu	37	15	48888524	48888524	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:48888524C>T	ENST00000316623.5	-	6	949	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	165	EGF-like 3. {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.R165Q(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)		GCATGCACATCGATTTGGGGC	0.418																																					p.R165Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494A	15						.						131.0	117.0	122.0					15																	48888524		2197	4296	6493	46675816	SO:0001583	missense	2200	exon6			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.494G>A	15.37:g.48888524C>T	ENSP00000325527:p.Arg165Gln		46675816	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879179	0.91740	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.91631	-2.88;0.14	5.87	5.87	0.94306	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	L	0.35487	1.065	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.93644	0.6967	10	0.51188	T	0.08	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	165	P35555	FBN1_HUMAN	Q	165	ENSP00000325527:R165Q;ENSP00000440294:R165Q	ENSP00000325527:R165Q	R	-	2	0	FBN1	46675816	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.246000	0.78247	2.785000	0.95823	0.655000	0.94253	CGA		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CEP152	22995	broad.mit.edu	37	15	49048558	49048558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:49048558C>A	ENST00000380950.2	-	20	3074	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.E963*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.E870*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	963					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E963*(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTTGCTTTTCTTTGTTCCAT	0.408																																					p.E963X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2887T	15						.						169.0	156.0	160.0					15																	49048558		1839	4093	5932	46835850	SO:0001587	stop_gained	22995	exon20			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2887G>T	15.37:g.49048558C>A	ENSP00000370337:p.Glu963*		46835850	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	42	9.468260	0.99180	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	5.54	4.63	0.57726	.	0.106857	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.4214	14.5485	0.68050	0.0:0.9293:0.0:0.0707	.	.	.	.	X	963;870;963	.	ENSP00000321000:E870X	E	-	1	0	CEP152	46835850	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.028000	0.57246	1.463000	0.47967	0.591000	0.81541	GAA		0.408	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49088311	49088311	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:49088311T>G	ENST00000380950.2	-	6	774	c.587A>C	c.(586-588)aAa>aCa	p.K196T	CEP152_ENST00000399334.3_Missense_Mutation_p.K196T|CEP152_ENST00000325747.5_Missense_Mutation_p.K103T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	196					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.K196T(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGATAAGGTTTATATGTCAC	0.393																																					p.K196T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A587C	15						.						144.0	138.0	140.0					15																	49088311		1856	4088	5944	46875603	SO:0001583	missense	22995	exon6			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.587A>C	15.37:g.49088311T>G	ENSP00000370337:p.Lys196Thr		46875603	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642379	0.67244	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.82081	-1.57;-1.57;-1.57	5.79	4.67	0.58626	.	0.099543	0.64402	D	0.000001	D	0.88973	0.6583	M	0.72118	2.19	0.35011	D	0.756864	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.993;0.999	D	0.92051	0.5648	10	0.66056	D	0.02	-29.7978	9.934	0.41539	0.0:0.0763:0.0:0.9237	.	103;196;196	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	T	196;103;196;196	ENSP00000370337:K196T;ENSP00000321000:K103T;ENSP00000382271:K196T	ENSP00000321000:K103T	K	-	2	0	CEP152	46875603	1.000000	0.71417	0.998000	0.56505	0.710000	0.40934	2.488000	0.45276	2.210000	0.71456	0.477000	0.44152	AAA		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49097786	49097786	+	Missense_Mutation	SNP	C	C	T	rs187563127	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:49097786C>T	ENST00000380950.2	-	2	248	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	CEP152_ENST00000399334.3_Missense_Mutation_p.E21K|CEP152_ENST00000325747.5_Missense_Mutation_p.E21K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	21					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E21K(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TAGTCCTCTTCGTCATACTCT	0.363													T|||	5	0.000998403	0.003	0.0014	5008	,	,		15074	0.0		0.0	False		,,,				2504	0.0				p.E21K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G61A	15						.	T	LYS/GLU,LYS/GLU	18,3654		2,14,1820	174.0	149.0	157.0		61,61	1.3	1.0	15		157	0,8172		0,0,4086	yes	missense,missense	CEP152	NM_001194998.1,NM_014985.3	56,56	2,14,5906	TT,TC,CC		0.0,0.4902,0.152	benign,benign	21/1711,21/1655	49097786	18,11826	1836	4086	5922	46885078	SO:0001583	missense	22995	exon2			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.61G>A	15.37:g.49097786C>T	ENSP00000370337:p.Glu21Lys		46885078	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	T	0.957	-0.704547	0.03255	0.004902	0.0	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.47528	2.07;0.84;2.07	5.03	1.32	0.21799	.	0.294591	0.37857	N	0.001920	T	0.07007	0.0178	N	0.00246	-1.78	0.21325	N	0.999726	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.001;0.0;0.001	T	0.38351	-0.9665	10	0.02654	T	1	-2.7725	6.9884	0.24741	0.0:0.1583:0.3308:0.5109	.	21;21;21	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	K	21	ENSP00000370337:E21K;ENSP00000321000:E21K;ENSP00000382271:E21K	ENSP00000321000:E21K	E	-	1	0	CEP152	46885078	1.000000	0.71417	0.999000	0.59377	0.449000	0.32228	1.177000	0.31969	0.078000	0.16900	-1.301000	0.01330	GAA		0.363	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
FAM227B	196951	broad.mit.edu	37	15	49882072	49882072	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:49882072C>T	ENST00000299338.6	-	4	541	c.238G>A	c.(238-240)Gca>Aca	p.A80T	FAM227B_ENST00000558594.1_Missense_Mutation_p.A80T|FAM227B_ENST00000561064.1_Missense_Mutation_p.A80T|FAM227B_ENST00000560246.1_Missense_Mutation_p.A80T|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	80								p.A80T(1)									ATCAAAAGTGCTTCAAATATT	0.303																																					p.A80T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G238A	15						.						62.0	68.0	66.0					15																	49882072		2195	4293	6488	47669364	SO:0001583	missense	196951	exon4				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.238G>A	15.37:g.49882072C>T	ENSP00000299338:p.Ala80Thr		47669364	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458979	0.26248	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	-0.801	0.10893	.	0.683914	0.13316	N	0.397096	T	0.23094	0.0558	L	0.43152	1.355	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.16289	0.015;0.015	T	0.25293	-1.0136	9	0.07990	T	0.79	-6.5147	0.9331	0.01339	0.162:0.3988:0.158:0.2811	.	80;80	Q96M60-2;Q96M60	.;CO033_HUMAN	T	80	.	ENSP00000299338:A80T	A	-	1	0	C15orf33	47669364	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.542000	0.06091	-0.220000	0.09988	0.591000	0.81541	GCA		0.303	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
FAM227B	196951	broad.mit.edu	37	15	49903446	49903446	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:49903446T>G	ENST00000299338.6	-	3	374	c.71A>C	c.(70-72)aAg>aCg	p.K24T	FAM227B_ENST00000558594.1_Missense_Mutation_p.K24T|FAM227B_ENST00000561064.1_Missense_Mutation_p.K24T|FAM227B_ENST00000560246.1_Missense_Mutation_p.K24T|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	24								p.K24T(1)									TTCAATGCTCTTTGGAGGTTC	0.264																																					p.K24T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A71C	15						.						58.0	59.0	59.0					15																	49903446		2194	4284	6478	47690738	SO:0001583	missense	196951	exon3				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.71A>C	15.37:g.49903446T>G	ENSP00000299338:p.Lys24Thr		47690738	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	T	4.796	0.147996	0.09134	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.75	-3.97	0.04094	.	0.627260	0.14785	N	0.298569	T	0.34077	0.0885	L	0.59436	1.845	0.09310	N	1	P;P	0.36535	0.557;0.557	B;B	0.41860	0.368;0.368	T	0.27262	-1.0079	9	0.41790	T	0.15	1.2609	3.7681	0.08630	0.2889:0.3536:0.0:0.3575	.	24;24	Q96M60-2;Q96M60	.;CO033_HUMAN	T	24	.	ENSP00000299338:K24T	K	-	2	0	C15orf33	47690738	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	-0.634000	0.05477	-0.465000	0.06953	-0.256000	0.11100	AAG		0.264	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
SLC27A2	11001	broad.mit.edu	37	15	50519340	50519340	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:50519340C>A	ENST00000267842.5	+	7	1654	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	SLC27A2_ENST00000380902.4_Missense_Mutation_p.F421L|SLC27A2_ENST00000544960.1_Missense_Mutation_p.F239L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	474					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.F474L(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)		ATGAAAATTTCATCTATTTCC	0.398																																					p.F421L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1263A	15						.						109.0	110.0	110.0					15																	50519340		2196	4295	6491	48306632	SO:0001583	missense	11001	exon6			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.1422C>A	15.37:g.50519340C>A	ENSP00000267842:p.Phe474Leu		48306632	NM_001159629	A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009326	0.75046	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.49139	0.79;1.04;1.04	5.78	3.89	0.44902	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	M	0.64676	1.99	0.54753	D	0.999986	D;D	0.63880	0.97;0.993	P;D	0.67382	0.838;0.951	T	0.57458	-0.7808	10	0.49607	T	0.09	.	7.128	0.25484	0.0:0.7213:0.0:0.2787	.	421;474	Q6PF09;O14975	.;S27A2_HUMAN	L	421;474;239	ENSP00000370289:F421L;ENSP00000267842:F474L;ENSP00000444549:F239L	ENSP00000267842:F474L	F	+	3	2	SLC27A2	48306632	0.035000	0.19736	0.999000	0.59377	0.996000	0.88848	0.356000	0.20181	0.762000	0.33152	0.655000	0.94253	TTC		0.398	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645	
HDC	3067	broad.mit.edu	37	15	50534577	50534577	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:50534577C>A	ENST00000267845.3	-	12	2271	c.1869G>T	c.(1867-1869)atG>atT	p.M623I	HDC_ENST00000543581.1_Missense_Mutation_p.M590I|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.M623I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TCTTCAGCATCATCATGTCTT	0.512																																					p.M623I	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1869T	15						.						97.0	107.0	103.0					15																	50534577		2196	4295	6491	48321869	SO:0001583	missense	3067	exon12				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1869G>T	15.37:g.50534577C>A	ENSP00000267845:p.Met623Ile		48321869	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551968	0.45487	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.09538	3.13;2.97	5.48	4.5	0.54988	.	0.397571	0.24422	N	0.038665	T	0.09468	0.0233	N	0.24115	0.695	0.37716	D	0.924721	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.002	T	0.13282	-1.0515	10	0.72032	D	0.01	-20.366	15.727	0.77770	0.0:0.8632:0.1367:0.0	.	590;623	B7ZM01;P19113	.;DCHS_HUMAN	I	623;590	ENSP00000267845:M623I;ENSP00000440252:M590I	ENSP00000267845:M623I	M	-	3	0	HDC	48321869	0.987000	0.35691	0.980000	0.43619	0.979000	0.70002	2.494000	0.45329	2.570000	0.86706	0.563000	0.77884	ATG		0.512	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
HDC	3067	broad.mit.edu	37	15	50534738	50534738	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:50534738A>G	ENST00000267845.3	-	12	2110	c.1708T>C	c.(1708-1710)Ttc>Ctc	p.F570L	HDC_ENST00000543581.1_Missense_Mutation_p.F537L|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.F570L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AAGTAACTGAACAGGAAGGAG	0.542																																					p.F570L	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1708C	15						.						133.0	137.0	135.0					15																	50534738		2196	4295	6491	48322030	SO:0001583	missense	3067	exon12				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1708T>C	15.37:g.50534738A>G	ENSP00000267845:p.Phe570Leu		48322030	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893144	0.52121	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.13307	2.88;2.6	5.68	4.53	0.55603	.	0.791241	0.11475	N	0.560304	T	0.13157	0.0319	L	0.34521	1.04	0.31962	N	0.608231	B;B	0.13145	0.007;0.007	B;B	0.15870	0.01;0.014	T	0.06481	-1.0824	10	0.87932	D	0	-23.6748	11.3795	0.49748	0.8643:0.0:0.0:0.1357	.	537;570	B7ZM01;P19113	.;DCHS_HUMAN	L	570;537	ENSP00000267845:F570L;ENSP00000440252:F537L	ENSP00000267845:F570L	F	-	1	0	HDC	48322030	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.741000	0.55090	0.948000	0.37687	0.460000	0.39030	TTC		0.542	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
TRPM7	54822	broad.mit.edu	37	15	50891328	50891328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:50891328C>A	ENST00000313478.7	-	22	3435	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.E1052*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1052					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.E1052*(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)		CCATCAATTTCGTATGCATAA	0.289																																					p.E1052X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3154T	15						.						92.0	91.0	91.0					15																	50891328		1803	4063	5866	48678620	SO:0001587	stop_gained	54822	exon22			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.3154G>T	15.37:g.50891328C>A	ENSP00000320239:p.Glu1052*		48678620	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	44	11.104457	0.99516	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.4378	19.2198	0.93791	0.0:1.0:0.0:0.0	.	.	.	.	X	1052	.	ENSP00000320239:E1052X	E	-	1	0	TRPM7	48678620	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.815000	0.55651	2.629000	0.89072	0.650000	0.86243	GAA		0.289	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
GLDN	342035	broad.mit.edu	37	15	51692409	51692409	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:51692409A>C	ENST00000335449.6	+	7	894	c.838A>C	c.(838-840)Aat>Cat	p.N280H	GLDN_ENST00000396399.2_Missense_Mutation_p.N156H	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	280					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.N280H(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)		TGCCATACCAAATGATGATAC	0.428																																					p.N280H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A838C	15						.						106.0	101.0	102.0					15																	51692409		2196	4293	6489	49479701	SO:0001583	missense	342035	exon7			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.838A>C	15.37:g.51692409A>C	ENSP00000335196:p.Asn280His		49479701	NM_181789	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826879	0.90955	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.92048	-2.96;-2.75	5.79	5.79	0.91817	.	0.000000	0.46442	D	0.000295	D	0.95430	0.8516	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95836	0.8862	10	0.87932	D	0	.	16.1415	0.81528	1.0:0.0:0.0:0.0	.	280	Q6ZMI3	GLDN_HUMAN	H	280;156;156	ENSP00000335196:N280H;ENSP00000379681:N156H	ENSP00000335196:N280H	N	+	1	0	GLDN	49479701	1.000000	0.71417	0.607000	0.28956	0.992000	0.81027	8.182000	0.89698	2.198000	0.70561	0.533000	0.62120	AAT		0.428	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	
LEO1	123169	broad.mit.edu	37	15	52239507	52239507	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:52239507C>A	ENST00000299601.5	-	11	1938	c.1878G>T	c.(1876-1878)aaG>aaT	p.K626N	LEO1_ENST00000315141.5_Missense_Mutation_p.K566N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	626					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)		p.K626N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGGTAAGTTTCTTTGCTTTGA	0.398																																					p.K626N	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1878T	15						.						249.0	220.0	230.0					15																	52239507		2195	4293	6488	50026799	SO:0001583	missense	123169	exon11			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1878G>T	15.37:g.52239507C>A	ENSP00000299601:p.Lys626Asn		50026799	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	.	19.50	3.838766	0.71373	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.49	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.71239	0.3316	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.973;0.998	T	0.72364	-0.4316	9	0.72032	D	0.01	.	11.8881	0.52615	0.0:0.8569:0.0:0.1431	.	566;626	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	N	626;604;566	.	ENSP00000299601:K626N	K	-	3	2	LEO1	50026799	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.576000	0.46033	0.711000	0.32018	0.561000	0.74099	AAG		0.398	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
MYO5C	55930	broad.mit.edu	37	15	52537644	52537644	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:52537644G>T	ENST00000261839.7	-	18	2246	c.2085C>A	c.(2083-2085)ttC>ttA	p.F695L	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	695	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F695L(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)		AGCGACTGTAGAACTCGATGT	0.498																																					p.F695L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2085A	15						.						154.0	153.0	153.0					15																	52537644		2033	4199	6232	50324936	SO:0001583	missense	55930	exon18			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.2085C>A	15.37:g.52537644G>T	ENSP00000261839:p.Phe695Leu		50324936	NM_018728	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063643	0.55432	.	.	ENSG00000128833	ENST00000261839	D	0.89343	-2.5	4.79	3.79	0.43588	Myosin head, motor domain (2);	0.104894	0.64402	D	0.000003	D	0.92980	0.7766	M	0.87097	2.86	0.80722	D	1	D	0.64830	0.994	P	0.61940	0.896	D	0.92663	0.6143	10	0.72032	D	0.01	.	7.0915	0.25287	0.1877:0.0:0.8123:0.0	.	695	Q9NQX4	MYO5C_HUMAN	L	695	ENSP00000261839:F695L	ENSP00000261839:F695L	F	-	3	2	MYO5C	50324936	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.075000	0.41538	2.479000	0.83701	0.555000	0.69702	TTC		0.498	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
UNC13C	440279	broad.mit.edu	37	15	54799385	54799385	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:54799385A>G	ENST00000260323.11	+	22	5372	c.5372A>G	c.(5371-5373)gAa>gGa	p.E1791G	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1789G|UNC13C_ENST00000545554.1_Missense_Mutation_p.E1791G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1791					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.E1791G(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTGATAAGGAAAATGTGGTA	0.328																																					p.E1791G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5372G	15						.						86.0	80.0	82.0					15																	54799385		1831	4087	5918	52586677	SO:0001583	missense	440279	exon21			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.5372A>G	15.37:g.54799385A>G	ENSP00000260323:p.Glu1791Gly		52586677	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713837	0.89112	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.15139	2.45;2.45;2.45	5.74	5.74	0.90152	.	0.106321	0.64402	D	0.000005	T	0.50939	0.1645	M	0.91663	3.23	0.53005	D	0.999967	D	0.76494	0.999	D	0.80764	0.994	T	0.61739	-0.7001	10	0.66056	D	0.02	.	15.2628	0.73637	1.0:0.0:0.0:0.0	.	1791	Q8NB66	UN13C_HUMAN	G	1791;1791;1789	ENSP00000260323:E1791G;ENSP00000438156:E1791G;ENSP00000442569:E1789G	ENSP00000260323:E1791G	E	+	2	0	UNC13C	52586677	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.108000	0.94275	2.206000	0.71126	0.456000	0.33151	GAA		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
PRTG	283659	broad.mit.edu	37	15	55976069	55976069	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:55976069C>T	ENST00000389286.4	-	3	505	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin									p.R153Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCATGCAAATCGAGCAACTCC	0.413																																					p.R153Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	15						.						90.0	90.0	90.0					15																	55976069		1879	4112	5991	53763361	SO:0001583	missense	283659	exon3			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.458G>A	15.37:g.55976069C>T	ENSP00000373937:p.Arg153Gln		53763361	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344911	0.95807	.	.	ENSG00000166450	ENST00000389286	T	0.67865	-0.29	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	U	0.000000	T	0.79981	0.4540	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.77576	-0.2536	10	0.32370	T	0.25	-16.9588	16.599	0.84804	0.0:1.0:0.0:0.0	.	153	Q2VWP7	PRTG_HUMAN	Q	153	ENSP00000373937:R153Q	ENSP00000373937:R153Q	R	-	2	0	PRTG	53763361	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.484000	0.81180	2.580000	0.87095	0.455000	0.32223	CGA		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
RNF111	54778	broad.mit.edu	37	15	59348038	59348038	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:59348038G>T	ENST00000557998.1	+	4	1452	c.1165G>T	c.(1165-1167)Gaa>Taa	p.E389*	RNF111_ENST00000348370.4_Nonsense_Mutation_p.E389*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.E389*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.E389*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.E389*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	389	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E389*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TACCGTTGATGAAGATGGTAA	0.418																																					p.E389X	NSCLC(72;983 1365 10746 34387 47081)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1165T	15						.						58.0	52.0	54.0					15																	59348038		2192	4291	6483	57135330	SO:0001587	stop_gained	54778	exon4			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1165G>T	15.37:g.59348038G>T	ENSP00000452732:p.Glu389*		57135330	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	42	9.253824	0.99115	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.4435	19.7762	0.96393	0.0:0.0:1.0:0.0	.	.	.	.	X	389	.	ENSP00000288199:E389X	E	+	1	0	RNF111	57135330	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.793000	0.91862	2.678000	0.91216	0.591000	0.81541	GAA		0.418	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
RNF111	54778	broad.mit.edu	37	15	59359277	59359277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:59359277G>T	ENST00000557998.1	+	6	1968	c.1681G>T	c.(1681-1683)Gaa>Taa	p.E561*	RNF111_ENST00000348370.4_Nonsense_Mutation_p.E561*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.E561*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.E561*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.E561*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	561					gene expression (GO:0010467)|pattern specification process (GO:0007389)|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 of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|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 SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E561*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CAGCTATCATGAACAGGTATG	0.463																																					p.E561X	NSCLC(72;983 1365 10746 34387 47081)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1681T	15						.						100.0	91.0	94.0					15																	59359277		2192	4291	6483	57146569	SO:0001587	stop_gained	54778	exon6			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1681G>T	15.37:g.59359277G>T	ENSP00000452732:p.Glu561*		57146569	NM_017610	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	43	9.832844	0.99275	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.7	5.7	0.88788	.	0.045758	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.8722	18.8254	0.92115	0.0:0.0:1.0:0.0	.	.	.	.	X	561	.	ENSP00000288199:E561X	E	+	1	0	RNF111	57146569	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	8.279000	0.89901	2.695000	0.91970	0.462000	0.41574	GAA		0.463	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610	
VPS13C	54832	broad.mit.edu	37	15	62256067	62256067	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:62256067C>T	ENST00000261517.5	-	32	3371	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E1100K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E1057K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1057K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.E1100K(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						TTGTTCTTTTCGTTGCAAACA	0.348																																					p.E1057K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3169A	15						.						114.0	104.0	107.0					15																	62256067		2203	4300	6503	60043359	SO:0001583	missense	54832	exon30			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.3298G>A	15.37:g.62256067C>T	ENSP00000261517:p.Glu1100Lys		60043359	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867379	0.72065	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.38401	1.14;1.14;1.14	5.66	5.66	0.87406	.	0.060437	0.64402	D	0.000004	T	0.32466	0.0830	N	0.11560	0.145	0.58432	D	0.999997	D;D;D;D	0.63880	0.991;0.98;0.993;0.976	P;P;P;B	0.52066	0.477;0.559;0.689;0.427	T	0.08534	-1.0717	10	0.17369	T	0.5	.	19.7559	0.96291	0.0:1.0:0.0:0.0	.	1057;1100;1057;1100	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	1057;1100;1100;1100	ENSP00000249837:E1057K;ENSP00000261517:E1100K;ENSP00000379233:E1100K	ENSP00000249837:E1057K	E	-	1	0	VPS13C	60043359	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	4.129000	0.57957	2.656000	0.90262	0.655000	0.94253	GAA		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
VPS13C	54832	broad.mit.edu	37	15	62305311	62305311	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:62305311C>T	ENST00000261517.5	-	11	825	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	VPS13C_ENST00000395896.4_Missense_Mutation_p.R251Q|VPS13C_ENST00000249837.3_Missense_Mutation_p.R208Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R208Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R251Q(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						ACTATCAAGTCGTATAAGCTA	0.338																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	15						.						70.0	66.0	68.0					15																	62305311		2202	4300	6502	60092603	SO:0001583	missense	54832	exon9			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.752G>A	15.37:g.62305311C>T	ENSP00000261517:p.Arg251Gln		60092603	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111477	0.37242	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43294	0.96;0.95;1.13	5.83	2.29	0.28610	.	0.467855	0.21430	N	0.074676	T	0.37919	0.1021	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.29212	0.056;0.237;0.132;0.081	B;B;B;B	0.28991	0.04;0.097;0.027;0.018	T	0.25047	-1.0143	10	0.49607	T	0.09	.	10.3797	0.44104	0.0:0.7738:0.0:0.2262	.	208;251;208;251	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	208;251;251;251	ENSP00000249837:R208Q;ENSP00000261517:R251Q;ENSP00000379233:R251Q	ENSP00000249837:R208Q	R	-	2	0	VPS13C	60092603	0.447000	0.25673	0.039000	0.18376	0.565000	0.35776	2.236000	0.43052	0.145000	0.18977	-0.157000	0.13467	CGA		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
LACTB	114294	broad.mit.edu	37	15	63433864	63433864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:63433864G>T	ENST00000261893.4	+	6	1576	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	502						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.E502*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CCTTCCTGAAGAACTGGATAC	0.448																																					p.E502X	Melanoma(85;443 1381 6215 27308 35583)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1504T	15						.						60.0	55.0	57.0					15																	63433864		2203	4300	6503	61220917	SO:0001587	stop_gained	114294	exon6			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1504G>T	15.37:g.63433864G>T	ENSP00000261893:p.Glu502*		61220917	NM_032857	P83096	Nonsense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	36	5.640540	0.96693	.	.	ENSG00000103642	ENST00000261893	.	.	.	5.64	5.64	0.86602	.	0.047948	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-26.7563	19.0467	0.93022	0.0:0.0:1.0:0.0	.	.	.	.	X	502	.	ENSP00000261893:E502X	E	+	1	0	LACTB	61220917	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.789000	0.75110	2.817000	0.96982	0.563000	0.77884	GAA		0.448	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
HERC1	8925	broad.mit.edu	37	15	63928190	63928190	+	Silent	SNP	G	G	A	rs2228509		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:63928190G>A	ENST00000443617.2	-	65	12471	c.12384C>T	c.(12382-12384)atC>atT	p.I4128I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4128					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.I4128I(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						GTAAGGCCTCGATCTGCCTGG	0.478																																					p.I4128I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C12384T	15						.						225.0	231.0	229.0					15																	63928190		2030	4185	6215	61715243	SO:0001819	synonymous_variant	8925	exon65			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.12384C>T	15.37:g.63928190G>A			61715243	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
ZNF609	23060	broad.mit.edu	37	15	64970359	64970359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:64970359C>A	ENST00000326648.3	+	5	3575	c.3447C>A	c.(3445-3447)taC>taA	p.Y1149*		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1149						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGCCAAGTACTCAGACATCA	0.498																																					p.Y1149X												.	.	0			c.C3447A	15						.						60.0	53.0	55.0					15																	64970359		2203	4299	6502	62757412	SO:0001587	stop_gained	23060	exon5			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3447C>A	15.37:g.64970359C>A	ENSP00000316527:p.Tyr1149*		62757412	NM_015042	Q0D2I2	Nonsense_Mutation	SNP	ENST00000326648.3	37	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	42	9.234731	0.99110	.	.	ENSG00000180357	ENST00000326648	.	.	.	5.44	5.44	0.79542	.	0.346876	0.33670	N	0.004678	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5038	13.5448	0.61697	0.0:0.9255:0.0:0.0745	.	.	.	.	X	1149	.	ENSP00000316527:Y1149X	Y	+	3	2	ZNF609	62757412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.814000	0.38972	2.537000	0.85549	0.650000	0.86243	TAC		0.498	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833	
DENND4A	10260	broad.mit.edu	37	15	65982886	65982886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:65982886G>T	ENST00000431932.2	-	22	4122	c.3914C>A	c.(3913-3915)tCa>tAa	p.S1305*	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Nonsense_Mutation_p.S1348*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1305					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.S1307*(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						TAAGTTAAATGAAGGTGATGA	0.408																																					p.S1348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4043A	15						.						115.0	111.0	112.0					15																	65982886		1895	4114	6009	63769940	SO:0001587	stop_gained	10260	exon23			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3914C>A	15.37:g.65982886G>T	ENSP00000396830:p.Ser1305*		63769940	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	45	11.991853	0.99625	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	0.307999	0.31884	N	0.006905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3125	0.94195	0.0:0.0:1.0:0.0	.	.	.	.	X	1348;1305	.	ENSP00000396830:S1305X	S	-	2	0	DENND4A	63769940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.086000	0.94088	2.576000	0.86940	0.650000	0.86243	TCA		0.408	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
TIPIN	54962	broad.mit.edu	37	15	66641448	66641448	+	Missense_Mutation	SNP	C	C	T	rs76072153		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:66641448C>T	ENST00000261881.4	-	6	510	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	Y_RNA_ENST00000411339.1_RNA|SCARNA14_ENST00000516903.1_RNA|TIPIN_ENST00000367709.4_Missense_Mutation_p.R41Q	NM_017858.2	NP_060328	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	142	Interaction with TIMELESS.				cell cycle phase transition (GO:0044770)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|mitotic nuclear division (GO:0007067)|positive regulation of cell proliferation (GO:0008284)|regulation of nuclear cell cycle DNA replication (GO:0033262)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)		p.R142Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						AAGTCGAATTCGTTTTAAACA	0.299																																					p.R142Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G425A	15						.						60.0	63.0	62.0					15																	66641448		2200	4299	6499	64428502	SO:0001583	missense	54962	exon6			BK001386	CCDS10215.1	15q22.31	2012-03-02	2006-08-08		ENSG00000075131	ENSG00000075131			30750	protein-coding gene	gene with protein product	"""CSM3 homolog (S. cerevisiae)"""	610716				12875843, 17102137	Standard	NM_017858		Approved	FLJ20516	uc002apr.2	Q9BVW5	OTTHUMG00000133188	ENST00000261881.4:c.425G>A	15.37:g.66641448C>T	ENSP00000261881:p.Arg142Gln		64428502	NM_017858	B2CW64|Q9NWZ6	Missense_Mutation	SNP	ENST00000261881.4	37	CCDS10215.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.45	3.127047	0.56721	.	.	ENSG00000075131	ENST00000367709;ENST00000261881	T;T	0.44083	0.93;0.93	5.11	4.2	0.49525	Replication fork protection component Swi3 (2);	0.129811	0.50627	N	0.000120	T	0.31389	0.0795	L	0.42245	1.32	0.46167	D	0.998906	P	0.51653	0.947	B	0.38842	0.283	T	0.11767	-1.0574	10	0.54805	T	0.06	-9.7736	9.1058	0.36696	0.0:0.8307:0.0:0.1693	.	142	Q9BVW5	TIPIN_HUMAN	Q	41;142	ENSP00000356682:R41Q;ENSP00000261881:R142Q	ENSP00000261881:R142Q	R	-	2	0	TIPIN	64428502	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.232000	0.51302	1.285000	0.44548	0.555000	0.69702	CGA		0.299	TIPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256897.2	NM_017858	
IQCH	64799	broad.mit.edu	37	15	67664696	67664696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:67664696C>T	ENST00000335894.4	+	9	1067	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	IQCH_ENST00000358767.3_Missense_Mutation_p.T161M|IQCH_ENST00000360277.4_Missense_Mutation_p.T86M|IQCH_ENST00000546225.1_Missense_Mutation_p.T82M	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	334								p.T334M(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)		TTTGAGCTGACGAATAAACTT	0.438																																					p.T334M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1001T	15						.						110.0	118.0	116.0					15																	67664696		2201	4299	6500	65451750	SO:0001583	missense	64799	exon9			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.1001C>T	15.37:g.67664696C>T	ENSP00000336861:p.Thr334Met		65451750	NM_001031715	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	4.045	0.005894	0.07866	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.44482	0.92;0.93;0.93;0.92	5.53	1.88	0.25563	.	0.578681	0.20079	N	0.099691	T	0.22399	0.0540	N	0.08118	0	0.09310	N	0.999999	P;P;P;P;P	0.49961	0.61;0.61;0.61;0.614;0.93	B;B;B;B;P	0.44477	0.169;0.169;0.169;0.282;0.451	T	0.08700	-1.0709	10	0.51188	T	0.08	0.0259	5.8061	0.18440	0.5928:0.2711:0.1361:0.0	.	161;82;86;334;161	F8WAL8;Q86VS3-2;Q86VS3-4;Q86VS3;Q86VS3-3	.;.;.;IQCH_HUMAN;.	M	161;82;334;86	ENSP00000351617:T161M;ENSP00000444118:T82M;ENSP00000336861:T334M;ENSP00000353419:T86M	ENSP00000336861:T334M	T	+	2	0	IQCH	65451750	0.992000	0.36948	0.287000	0.24848	0.728000	0.41692	3.120000	0.50430	0.117000	0.18138	-1.181000	0.01715	ACG		0.438	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	
SKOR1	390598	broad.mit.edu	37	15	68124644	68124644	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:68124644G>A	ENST00000380035.2	+	6	2678	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	RP11-34F13.2_ENST00000502156.1_lincRNA|SKOR1_ENST00000554054.1_Missense_Mutation_p.E846K|SKOR1_ENST00000389002.1_Missense_Mutation_p.E830K|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.E777K|SKOR1_ENST00000554240.1_Missense_Mutation_p.E835K			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	874					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.E830K(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GGAACAAATGGAGCTCCGCAA	0.532											OREG0023215	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E830K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2488A	15						.						135.0	137.0	136.0					15																	68124644		2200	4298	6498	65911698	SO:0001583	missense	390598	exon7				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2620G>A	15.37:g.68124644G>A	ENSP00000369374:p.Glu874Lys	1104	65911698	NM_001031807	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37		.	.	.	.	.	.	.	.	.	.	G	34	5.406837	0.96051	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.33	5.33	0.75918	.	0.059324	0.64402	D	0.000003	T	0.53690	0.1812	N	0.08118	0	0.52501	D	0.99995	P	0.51147	0.942	D	0.65684	0.937	T	0.62900	-0.6756	10	0.56958	D	0.05	-20.6609	16.7928	0.85593	0.0:0.0:1.0:0.0	.	830	P84550-3	.	K	777;835;846;874;830	ENSP00000343200:E777K;ENSP00000451193:E835K;ENSP00000452361:E846K;ENSP00000369374:E874K;ENSP00000373654:E830K	ENSP00000343200:E777K	E	+	1	0	SKOR1	65911698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.923000	0.92808	2.492000	0.84095	0.561000	0.74099	GAG		0.532	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807	
PIAS1	8554	broad.mit.edu	37	15	68468982	68468982	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:68468982A>C	ENST00000249636.6	+	11	1619	c.1471A>C	c.(1471-1473)Aat>Cat	p.N491H	PIAS1_ENST00000567417.1_3'UTR|PIAS1_ENST00000545237.1_Missense_Mutation_p.N493H	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	491					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.N491H(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ATCACCACTAAATAATAAAGG	0.368																																					p.N491H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1471C	15						.						76.0	72.0	73.0					15																	68468982		1865	4091	5956	66256036	SO:0001583	missense	8554	exon11			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1471A>C	15.37:g.68468982A>C	ENSP00000249636:p.Asn491His		66256036	NM_016166	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354758	0.24512	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.30182	1.54;1.54	5.93	5.93	0.95920	.	0.441280	0.29830	N	0.011091	T	0.14874	0.0359	N	0.02539	-0.55	0.19575	N	0.999965	B	0.34147	0.438	B	0.35859	0.212	T	0.19712	-1.0297	10	0.13108	T	0.6	-9.0755	16.3871	0.83514	1.0:0.0:0.0:0.0	.	491	O75925	PIAS1_HUMAN	H	491;493	ENSP00000249636:N491H;ENSP00000438574:N493H	ENSP00000249636:N491H	N	+	1	0	PIAS1	66256036	0.929000	0.31497	0.689000	0.30133	0.994000	0.84299	3.379000	0.52440	2.265000	0.75225	0.533000	0.62120	AAT		0.368	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		
ITGA11	22801	broad.mit.edu	37	15	68653956	68653956	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:68653956G>T	ENST00000315757.7	-	5	530	c.444C>A	c.(442-444)ttC>ttA	p.F148L	ITGA11_ENST00000423218.2_Missense_Mutation_p.F148L|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	148					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.F148L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CGGTCTTGGAGAACCTGAAGT	0.562																																					p.F148L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C444A	15						.						76.0	76.0	76.0					15																	68653956		1978	4151	6129	66441010	SO:0001583	missense	22801	exon5			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.444C>A	15.37:g.68653956G>T	ENSP00000327290:p.Phe148Leu		66441010	NM_001004439	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812932	0.16537	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.57107	0.42;0.44	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.15975	0.35	0.45415	D	0.998396	B;B	0.24317	0.022;0.101	B;B	0.27262	0.024;0.078	T	0.17258	-1.0375	10	0.07325	T	0.83	.	16.915	0.86149	0.0:0.0:1.0:0.0	.	148;148	A8K8T0;Q9UKX5	.;ITA11_HUMAN	L	148	ENSP00000327290:F148L;ENSP00000403392:F148L	ENSP00000327290:F148L	F	-	3	2	ITGA11	66441010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.654000	0.46699	2.282000	0.76494	0.555000	0.69702	TTC		0.562	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
CORO2B	10391	broad.mit.edu	37	15	69011767	69011767	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:69011767C>A	ENST00000566799.1	+	11	1216	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	CORO2B_ENST00000540068.1_Missense_Mutation_p.S391Y|CORO2B_ENST00000261861.5_Missense_Mutation_p.S391Y|CORO2B_ENST00000543950.1_Missense_Mutation_p.S391Y			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	396					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.S396Y(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTGCTGATGTCTTTGAAAGAA	0.448																																					p.S396Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187A	15						.						155.0	146.0	149.0					15																	69011767		2200	4298	6498	66798821	SO:0001583	missense	10391	exon11			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1187C>A	15.37:g.69011767C>A	ENSP00000454783:p.Ser396Tyr		66798821	NM_006091	A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969903	0.74246	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.38077	1.16;1.16	5.49	5.49	0.81192	Domain of unknown function DUF1900 (1);	.	.	.	.	T	0.62792	0.2457	M	0.82823	2.61	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.67565	-0.5638	9	0.87932	D	0	-7.7866	13.6458	0.62281	0.0:0.8447:0.1553:0.0	.	396	Q9UQ03	COR2B_HUMAN	Y	396;391;391	ENSP00000446250:S391Y;ENSP00000443819:S391Y	ENSP00000261861:S396Y	S	+	2	0	CORO2B	66798821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.580000	0.67464	2.582000	0.87167	0.462000	0.41574	TCT		0.448	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
CLK3	1198	broad.mit.edu	37	15	74918291	74918291	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:74918291C>A	ENST00000395066.3	+	7	1704	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	CLK3_ENST00000345005.4_Missense_Mutation_p.L267I|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Missense_Mutation_p.L244I	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L267I(1)|p.L415I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GGCCTACCAGCTCTGCCACGC	0.527																																					p.L415I	Ovarian(133;694 1754 28950 29027 31859)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1243A	15						.						129.0	104.0	113.0					15																	74918291		2197	4296	6493	72705344	SO:0001583	missense	1198	exon7			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1243C>A	15.37:g.74918291C>A	ENSP00000378505:p.Leu415Ile		72705344	NM_001130028	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733370	0.48939	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.19250	2.16;2.16	5.57	4.66	0.58398	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	0.000013	T	0.23133	0.0559	L	0.33624	1.015	0.80722	D	1	B;B;B;B	0.31680	0.024;0.328;0.335;0.012	B;P;B;B	0.45167	0.415;0.472;0.394;0.339	T	0.08848	-1.0702	10	0.21014	T	0.42	.	10.6454	0.45617	0.0:0.8541:0.0:0.1459	.	415;120;194;244	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	I	267;267;415;244	ENSP00000344112:L267I;ENSP00000323106:L244I	ENSP00000344112:L267I	L	+	1	0	CLK3	72705344	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.276000	0.33156	1.359000	0.45940	0.655000	0.94253	CTC		0.527	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3		
CYP1A2	1544	broad.mit.edu	37	15	75042427	75042427	+	Silent	SNP	C	C	T	rs71541923		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:75042427C>T	ENST00000343932.4	+	2	411	c.348C>T	c.(346-348)ctC>ctT	p.L116L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	116					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.L116L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCTCCACCCTCATCACTGATG	0.667																																					p.L116L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	15						.						69.0	64.0	65.0					15																	75042427		2197	4295	6492	72829480	SO:0001819	synonymous_variant	1544	exon2			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.348C>T	15.37:g.75042427C>T			72829480	NM_000761	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761	
C15orf27	123591	broad.mit.edu	37	15	76430069	76430069	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:76430069T>G	ENST00000388942.3	+	3	336	c.60T>G	c.(58-60)atT>atG	p.I20M		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	20					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)	p.I20M(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AAGGAGGAATTTCTGAAGTTG	0.488																																					p.I20M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T60G	15						.						135.0	140.0	139.0					15																	76430069		1930	4135	6065	74217124	SO:0001583	missense	123591	exon3			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.60T>G	15.37:g.76430069T>G	ENSP00000373594:p.Ile20Met		74217124	NM_152335	Q8N993|Q96LL5	De_novo_Start_OutOfFrame	SNP	ENST00000388942.3	37	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	T	10.73	1.431994	0.25813	.	.	ENSG00000169758	ENST00000388942	T	0.35048	1.33	4.96	3.84	0.44239	.	0.551776	0.16121	N	0.228670	T	0.32704	0.0838	L	0.44542	1.39	0.25753	N	0.985038	B	0.32526	0.374	B	0.36666	0.23	T	0.27606	-1.0069	10	0.72032	D	0.01	-1.0124	8.6202	0.33855	0.0:0.0877:0.0:0.9123	.	20	Q2M3C6	CO027_HUMAN	M	20	ENSP00000373594:I20M	ENSP00000373594:I20M	I	+	3	3	C15orf27	74217124	0.981000	0.34729	0.248000	0.24265	0.048000	0.14542	0.462000	0.21956	0.844000	0.35094	0.533000	0.62120	ATT		0.488	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	
PEAK1	79834	broad.mit.edu	37	15	77407318	77407318	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:77407318A>C	ENST00000560626.2	-	7	4896	c.4421T>G	c.(4420-4422)tTt>tGt	p.F1474C	PEAK1_ENST00000312493.4_Missense_Mutation_p.F1474C			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1474	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.F1474C(2)									GTCTCGCACAAAATCAGCCAC	0.522																																					p.F1474C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T4421G	15						.						113.0	111.0	111.0					15																	77407318		2119	4226	6345	75194373	SO:0001583	missense	79834	exon6				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4421T>G	15.37:g.77407318A>C	ENSP00000452796:p.Phe1474Cys		75194373	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905612	0.72868	.	.	ENSG00000173517	ENST00000312493	T	0.75367	-0.93	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	D	0.85978	0.5823	M	0.77486	2.375	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.88022	0.2769	10	0.87932	D	0	-9.3498	14.9542	0.71098	1.0:0.0:0.0:0.0	.	1474	Q9H792	PEAK1_HUMAN	C	1474	ENSP00000309230:F1474C	ENSP00000309230:F1474C	F	-	2	0	AC087465.1	75194373	1.000000	0.71417	0.986000	0.45419	0.920000	0.55202	9.108000	0.94275	1.957000	0.56846	0.459000	0.35465	TTT		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
RASGRF1	5923	broad.mit.edu	37	15	79277358	79277358	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:79277358G>T	ENST00000419573.3	-	24	3727	c.3453C>A	c.(3451-3453)gtC>gtA	p.V1151V	RASGRF1_ENST00000394745.3_Silent_p.V367V|RASGRF1_ENST00000560334.1_5'UTR|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000558480.2_Silent_p.V1135V	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1151	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1151V(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						CCTGCTTAGAGACTTTGAGCC	0.597																																					p.V1151V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3453A	15						.						86.0	67.0	73.0					15																	79277358		2196	4293	6489	77064413	SO:0001819	synonymous_variant	5923	exon24			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.3453C>A	15.37:g.79277358G>T			77064413	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.597	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
RASGRF1	5923	broad.mit.edu	37	15	79339123	79339123	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:79339123G>A	ENST00000419573.3	-	5	1117	c.843C>T	c.(841-843)atC>atT	p.I281I	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I281I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	281	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.I281I(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						CGTCGTGTGTGATGGGAGGCT	0.587																																					p.I281I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843T	15						.						186.0	148.0	161.0					15																	79339123		2196	4293	6489	77126178	SO:0001819	synonymous_variant	5923	exon5			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.843C>T	15.37:g.79339123G>A			77126178	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.587	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
BCL2A1	597	broad.mit.edu	37	15	80263050	80263050	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:80263050C>A	ENST00000267953.3	-	1	738	c.412G>T	c.(412-414)Gga>Tga	p.G138*	BCL2A1_ENST00000335661.6_Nonsense_Mutation_p.G138*	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	138					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G138*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ACCCAGCCTCCGTTTTGCCTT	0.368																																					p.G138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G412T	15						.						109.0	115.0	113.0					15																	80263050		2203	4300	6503	78050105	SO:0001587	stop_gained	597	exon1				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.412G>T	15.37:g.80263050C>A	ENSP00000267953:p.Gly138*		78050105	NM_004049	Q6FGZ4|Q6FH19|Q86W13|Q99524	Nonsense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	39	7.368792	0.98241	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-19.9447	17.5676	0.87924	0.0:1.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000267953:G138X	G	-	1	0	BCL2A1	78050105	0.982000	0.34865	0.959000	0.39883	0.533000	0.34776	2.652000	0.46682	2.572000	0.86782	0.655000	0.94253	GGA		0.368	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049	
BCL2A1	597	broad.mit.edu	37	15	80263115	80263115	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:80263115T>G	ENST00000267953.3	-	1	673	c.347A>C	c.(346-348)aAg>aCg	p.K116T	BCL2A1_ENST00000335661.6_Missense_Mutation_p.K116T	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	116					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.K116T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						TGAAATCTCCTTATAGGTATC	0.378																																					p.K116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A347C	15						.						118.0	125.0	123.0					15																	80263115		2203	4300	6503	78050170	SO:0001583	missense	597	exon1				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.347A>C	15.37:g.80263115T>G	ENSP00000267953:p.Lys116Thr		78050170	NM_004049	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007207	0.54361	.	.	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.12147	2.71;2.71	5.39	5.39	0.77823	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.373188	0.25487	N	0.030325	T	0.30727	0.0774	M	0.69823	2.125	0.09310	N	0.999999	P;P	0.50443	0.935;0.793	P;P	0.55713	0.782;0.638	T	0.11179	-1.0598	10	0.56958	D	0.05	-14.0008	14.0059	0.64463	0.0:0.0:0.0:1.0	.	116;116	Q86W13;Q16548	.;B2LA1_HUMAN	T	116	ENSP00000267953:K116T;ENSP00000335250:K116T	ENSP00000267953:K116T	K	-	2	0	BCL2A1	78050170	0.156000	0.22821	0.007000	0.13788	0.012000	0.07955	1.925000	0.40074	2.043000	0.60533	0.482000	0.46254	AAG		0.378	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049	
TMC3	342125	broad.mit.edu	37	15	81654629	81654629	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:81654629A>C	ENST00000359440.5	-	4	461	c.326T>G	c.(325-327)tTt>tGt	p.F109C	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.F109C|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.F109C(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						GAGACGAGCAAATTTCCGCCA	0.473																																					p.F109C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T326G	15						.						68.0	65.0	66.0					15																	81654629		2006	4177	6183	79441684	SO:0001583	missense	342125	exon4			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.326T>G	15.37:g.81654629A>C	ENSP00000352413:p.Phe109Cys		79441684	NM_001080532		Missense_Mutation	SNP	ENST00000359440.5	37	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.647341	0.47258	.	.	ENSG00000188869	ENST00000359440	T	0.70399	-0.48	5.02	3.87	0.44632	.	0.272597	0.30185	N	0.010213	T	0.69744	0.3145	M	0.75447	2.3	0.42241	D	0.991933	B;B	0.14805	0.002;0.011	B;B	0.16722	0.009;0.016	T	0.67452	-0.5667	10	0.62326	D	0.03	-6.708	11.7689	0.51947	0.8524:0.1476:0.0:0.0	.	109;109	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	C	109	ENSP00000352413:F109C	ENSP00000352413:F109C	F	-	2	0	TMC3	79441684	1.000000	0.71417	0.927000	0.36925	0.992000	0.81027	6.194000	0.72082	0.730000	0.32425	0.455000	0.32223	TTT		0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
FAM154B	283726	broad.mit.edu	37	15	82575068	82575068	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:82575068G>T	ENST00000339465.5	+	3	931	c.862G>T	c.(862-864)Gat>Tat	p.D288Y	FAM154B_ENST00000427381.2_Missense_Mutation_p.D273Y|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	288								p.D288Y(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CATGAAAGAAGATTTTCCAGC	0.403																																					p.D288Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862T	15						.						65.0	66.0	65.0					15																	82575068		2203	4300	6503	80362123	SO:0001583	missense	283726	exon3			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.862G>T	15.37:g.82575068G>T	ENSP00000340445:p.Asp288Tyr		80362123	NM_001008226	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107816	0.56291	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.38560	1.13;1.13	4.46	3.49	0.39957	.	0.072169	0.52532	D	0.000079	T	0.67608	0.2911	M	0.87682	2.9	0.47698	D	0.999494	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73049	-0.4105	10	0.52906	T	0.07	-21.6491	14.2307	0.65890	0.0:0.1509:0.8491:0.0	.	273;288	B4E2M2;Q658L1	.;F154B_HUMAN	Y	288;273	ENSP00000340445:D288Y;ENSP00000403743:D273Y	ENSP00000340445:D288Y	D	+	1	0	FAM154B	80362123	1.000000	0.71417	0.994000	0.49952	0.631000	0.37964	6.186000	0.72026	0.917000	0.36895	0.404000	0.27445	GAT		0.403	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
ADAMTSL3	57188	broad.mit.edu	37	15	84639305	84639305	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:84639305C>T	ENST00000286744.5	+	20	2784	c.2560C>T	c.(2560-2562)Cgg>Tgg	p.R854W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R854W|ADAMTSL3_ENST00000567716.1_3'UTR	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	854	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R854W(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)			AGCCAAAGGTCGGCGCATCCC	0.507																																					p.R854W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2560T	15						.						180.0	160.0	167.0					15																	84639305		2203	4300	6503	82430309	SO:0001583	missense	57188	exon20			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.2560C>T	15.37:g.84639305C>T	ENSP00000286744:p.Arg854Trp		82430309	NM_207517	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442158	0.63067	.	.	ENSG00000156218	ENST00000286744	T	0.53857	0.6	4.39	4.39	0.52855	.	0.414870	0.17881	N	0.158864	T	0.67970	0.2950	M	0.73372	2.23	0.43462	D	0.995666	D;D	0.71674	0.994;0.998	P;P	0.57846	0.711;0.828	T	0.72830	-0.4174	10	0.66056	D	0.02	.	16.75	0.85483	0.0:1.0:0.0:0.0	.	854;854	P82987-2;P82987	.;ATL3_HUMAN	W	854	ENSP00000286744:R854W	ENSP00000286744:R854W	R	+	1	2	ADAMTSL3	82430309	1.000000	0.71417	0.995000	0.50966	0.558000	0.35554	3.356000	0.52269	2.256000	0.74724	0.650000	0.86243	CGG		0.507	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ADAMTSL3	57188	broad.mit.edu	37	15	84694131	84694131	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:84694131T>C	ENST00000286744.5	+	27	4823	c.4599T>C	c.(4597-4599)ccT>ccC	p.P1533P	ADAMTSL3_ENST00000567476.1_Silent_p.P1533P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1533	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1533P(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)			AAGACCGGCCTCTGGGAAGAA	0.517																																					p.P1533P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4599C	15						.						114.0	103.0	107.0					15																	84694131		2203	4299	6502	82485135	SO:0001819	synonymous_variant	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.4599T>C	15.37:g.84694131T>C			82485135	NM_207517	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1																																																																																				0.517	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	
ZSCAN2	54993	broad.mit.edu	37	15	85164941	85164941	+	Silent	SNP	C	C	T	rs141281638		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:85164941C>T	ENST00000448803.2	+	3	1807	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	ZSCAN2_ENST00000327179.6_Silent_p.S504S|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Silent_p.S505S|ZSCAN2_ENST00000358472.3_Silent_p.S355S	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	505					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.S505S(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)		ACAAATGCAGCGAGTGTGGGA	0.587																																					p.S505S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1515T	15						.	C		1,4405	2.1+/-5.4	0,1,2202	97.0	94.0	95.0		1515	-5.1	0.0	15	dbSNP_134	95	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	ZSCAN2	NM_181877.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		505/615	85164941	2,13002	2203	4299	6502	82965945	SO:0001819	synonymous_variant	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.1515C>T	15.37:g.85164941C>T			82965945	NM_181877	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	CCDS10329.2																																																																																				0.587	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894	
PLIN1	5346	broad.mit.edu	37	15	90220717	90220717	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:90220717C>T	ENST00000300055.5	-	2	169	c.4G>A	c.(4-6)Gca>Aca	p.A2T	PEX11A_ENST00000557982.1_5'Flank|PLIN1_ENST00000430628.2_Missense_Mutation_p.A2T	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	2					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.A2T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TTGTTGACTGCCATCCTCGCT	0.562																																					p.A2T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4A	15						.						253.0	226.0	235.0					15																	90220717		2200	4299	6499	88021721	SO:0001583	missense	5346	exon2			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.4G>A	15.37:g.90220717C>T	ENSP00000300055:p.Ala2Thr		88021721	NM_002666	Q8N5Y6	Missense_Mutation	SNP	ENST00000300055.5	37	CCDS10353.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872047	0.33069	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.17528	2.27;2.27	5.78	3.86	0.44501	.	0.708385	0.12605	N	0.454349	T	0.06872	0.0175	N	0.08118	0	0.23082	N	0.998323	B	0.29766	0.256	B	0.25614	0.062	T	0.38178	-0.9673	10	0.12766	T	0.61	-5.8261	4.7609	0.13108	0.1806:0.6373:0.0:0.1821	.	2	O60240	PLIN1_HUMAN	T	2	ENSP00000300055:A2T;ENSP00000402167:A2T	ENSP00000300055:A2T	A	-	1	0	PLIN1	88021721	1.000000	0.71417	0.964000	0.40570	0.534000	0.34807	1.535000	0.36061	0.762000	0.33152	0.650000	0.86243	GCA		0.562	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666	
ANPEP	290	broad.mit.edu	37	15	90348345	90348345	+	Silent	SNP	G	G	A	rs141615930	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:90348345G>A	ENST00000300060.6	-	4	1174	c.861C>T	c.(859-861)ttC>ttT	p.F287F	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	287	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.F287F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CCACGTAGTCGAACTCACTGA	0.577													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20148	0.0		0.0	False		,,,				2504	0.0				p.F287F	NSCLC(30;827 977 2459 19669 26125)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C861T	15						.	G		20,4380	27.2+/-55.0	0,20,2180	276.0	229.0	244.0		861	-0.3	0.2	15	dbSNP_134	244	0,8598		0,0,4299	no	coding-synonymous	ANPEP	NM_001150.2		0,20,6479	AA,AG,GG		0.0,0.4545,0.1539		287/968	90348345	20,12978	2200	4299	6499	88149349	SO:0001819	synonymous_variant	290	exon4			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.861C>T	15.37:g.90348345G>A			88149349	NM_001150	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.577	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1		
TTLL13P	440307	broad.mit.edu	37	15	90796557	90796557	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:90796557C>T	ENST00000561573.1	+	4	639	c.375C>T	c.(373-375)tgC>tgT	p.C125C	TTLL13_ENST00000339615.5_Silent_p.C125C|TTLL13_ENST00000438251.1_Silent_p.C125C														p.C125C(1)									GGACAGACTGCGCTGTCTCAC	0.572																																					p.C125C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	15						.						151.0	98.0	116.0					15																	90796557		2199	4298	6497	88597561	SO:0001819	synonymous_variant	440307	exon4																														ENST00000561573.1:c.375C>T	15.37:g.90796557C>T			88597561	NM_001029964		Silent	SNP	ENST00000561573.1	37																																																																																					0.572	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000435855.1		
BLM	641	broad.mit.edu	37	15	91341469	91341469	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:91341469T>G	ENST00000355112.3	+	17	3378	c.3260T>G	c.(3259-3261)tTt>tGt	p.F1087C	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.F1087C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1087					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.F1087C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATTGTAAGATTTGTTCAAGAA	0.318			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.F1087C		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3260G	15						.						113.0	113.0	113.0					15																	91341469		2198	4297	6495	89142473	SO:0001583	missense	641	exon17	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3260T>G	15.37:g.91341469T>G	ENSP00000347232:p.Phe1087Cys		89142473	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178454	0.57692	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.40476	1.03	5.66	5.66	0.87406	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	L	0.58302	1.8	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.27380	0.079;0.079	T	0.23691	-1.0181	10	0.21540	T	0.41	-21.0432	13.8415	0.63441	0.0:0.0:0.0:1.0	.	1087;1087	B2RAN0;P54132	.;BLM_HUMAN	C	1087;717;274	ENSP00000347232:F1087C	ENSP00000347232:F1087C	F	+	2	0	BLM	89142473	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	7.845000	0.86875	2.161000	0.67846	0.477000	0.44152	TTT		0.318	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
UNC45A	55898	broad.mit.edu	37	15	91482979	91482979	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:91482979A>G	ENST00000418476.2	+	5	485	c.445A>G	c.(445-447)Acg>Gcg	p.T149A	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000394275.2_Missense_Mutation_p.T134A	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	149					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T149A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATGTCCTCGACGGATGCCAA	0.488																																					p.T134A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A400G	15						.						143.0	123.0	130.0					15																	91482979		2198	4298	6496	89283983	SO:0001583	missense	55898	exon8				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.445A>G	15.37:g.91482979A>G	ENSP00000407487:p.Thr149Ala		89283983	NM_001039675	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.911568	0.92178	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.05996	3.36;3.37	5.98	5.98	0.97165	Armadillo-like helical (1);Armadillo-type fold (1);	0.324438	0.32503	N	0.006014	T	0.24851	0.0603	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.76494	0.997;0.999;0.997;0.997	D;D;D;D	0.79784	0.985;0.993;0.985;0.985	T	0.00448	-1.1733	10	0.37606	T	0.19	-22.171	15.5109	0.75782	1.0:0.0:0.0:0.0	.	149;141;149;134	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	A	134;149	ENSP00000377816:T134A;ENSP00000407487:T149A	ENSP00000377816:T134A	T	+	1	0	UNC45A	89283983	1.000000	0.71417	0.612000	0.29024	0.992000	0.81027	7.745000	0.85046	2.307000	0.77673	0.529000	0.55759	ACG		0.488	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671	
CHD2	1106	broad.mit.edu	37	15	93545498	93545498	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:93545498A>C	ENST00000394196.4	+	33	5297	c.4229A>C	c.(4228-4230)gAc>gCc	p.D1410A	CHD2_ENST00000557381.1_Missense_Mutation_p.D1410A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1410					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.D1410A(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)			tctaggaaagacaaagaaggg	0.388																																					p.D1410A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4229C	15						.						121.0	121.0	121.0					15																	93545498		2197	4298	6495	91346502	SO:0001583	missense	1106	exon33			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.4229A>C	15.37:g.93545498A>C	ENSP00000377747:p.Asp1410Ala		91346502	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	A	10.13	1.266446	0.23136	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02197	4.4;4.4	4.89	4.89	0.63831	.	0.231001	0.21408	U	0.075040	T	0.02455	0.0075	L	0.36672	1.1	0.80722	D	1	B;B	0.18741	0.005;0.03	B;B	0.20767	0.014;0.031	T	0.53322	-0.8455	10	0.17369	T	0.5	-21.5003	11.1847	0.48648	1.0:0.0:0.0:0.0	.	1410;1410	O14647;O14647-2	CHD2_HUMAN;.	A	1410	ENSP00000377747:D1410A;ENSP00000451366:D1410A	ENSP00000377747:D1410A	D	+	2	0	CHD2	91346502	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.132000	0.64758	1.954000	0.56735	0.533000	0.62120	GAC		0.388	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
CERS3	204219	broad.mit.edu	37	15	101016297	101016297	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:101016297C>A	ENST00000394113.1	-	10	1293	c.603G>T	c.(601-603)aaG>aaT	p.K201N	CERS3_ENST00000284382.4_Missense_Mutation_p.K201N|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.K201N			Q8IU89	CERS3_HUMAN	ceramide synthase 3	201	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.K201N(1)									TTACCTTTCTCTTGACATCAA	0.358																																					p.K201N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G603T	15						.						64.0	71.0	69.0					15																	101016297		2203	4297	6500	98833820	SO:0001583	missense	204219	exon9				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.603G>T	15.37:g.101016297C>A	ENSP00000377672:p.Lys201Asn		98833820	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150098	0.57151	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85955	-2.05;-2.05	5.36	3.48	0.39840	TRAM/LAG1/CLN8 homology domain (3);	0.046039	0.85682	D	0.000000	D	0.92388	0.7584	M	0.91561	3.22	0.53688	D	0.999975	D	0.76494	0.999	D	0.72982	0.979	D	0.92342	0.5882	10	0.87932	D	0	-23.105	8.5461	0.33421	0.0:0.7613:0.0:0.2387	.	201	Q8IU89	CERS3_HUMAN	N	201;212;201	ENSP00000284382:K201N;ENSP00000437640:K201N	ENSP00000284382:K201N	K	-	3	2	CERS3	98833820	1.000000	0.71417	0.999000	0.59377	0.676000	0.39594	0.614000	0.24314	1.269000	0.44280	-0.216000	0.12614	AAG		0.358	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
CERS3	204219	broad.mit.edu	37	15	101031058	101031058	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:101031058C>A	ENST00000394113.1	-	6	942	c.252G>T	c.(250-252)gaG>gaT	p.E84D	CERS3_ENST00000284382.4_Missense_Mutation_p.E84D|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.E84D			Q8IU89	CERS3_HUMAN	ceramide synthase 3	84					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.E84D(2)									TGAAAAAATTCTCTAAGACAG	0.303																																					p.E84D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G252T	15						.						111.0	110.0	110.0					15																	101031058		2203	4299	6502	98848581	SO:0001583	missense	204219	exon5				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.252G>T	15.37:g.101031058C>A	ENSP00000377672:p.Glu84Asp		98848581	NM_178842	Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620296	0.87460	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.97791	-4.54;-4.54	5.53	5.53	0.82687	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.89658	3.05	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99425	1.0934	10	0.87932	D	0	-22.871	15.3311	0.74212	0.0:1.0:0.0:0.0	.	84	Q8IU89	CERS3_HUMAN	D	84;95;84	ENSP00000284382:E84D;ENSP00000437640:E84D	ENSP00000284382:E84D	E	-	3	2	CERS3	98848581	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.111000	0.50360	2.763000	0.94921	0.563000	0.77884	GAG		0.303	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842	
ASB7	140460	broad.mit.edu	37	15	101188654	101188654	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:101188654T>G	ENST00000332783.7	+	6	1729	c.944T>G	c.(943-945)tTt>tGt	p.F315C	ASB7_ENST00000558747.1_Missense_Mutation_p.F113C	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	315	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.F315C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAACACAAATTTGATGATATC	0.348																																					p.F315C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T944G	15						.						89.0	82.0	84.0					15																	101188654		2203	4300	6503	99006177	SO:0001583	missense	140460	exon6				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.944T>G	15.37:g.101188654T>G	ENSP00000328327:p.Phe315Cys		99006177	NM_198243	A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092697	0.76756	.	.	ENSG00000183475	ENST00000332783	T	0.44083	0.93	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.48642	1.525	0.80722	D	1	D	0.63046	0.992	P	0.60117	0.869	T	0.56902	-0.7902	10	0.62326	D	0.03	-12.2009	15.657	0.77144	0.0:0.0:0.0:1.0	.	315	Q9H672	ASB7_HUMAN	C	315	ENSP00000328327:F315C	ENSP00000328327:F315C	F	+	2	0	ASB7	99006177	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.097000	0.63578	0.533000	0.62120	TTT		0.348	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708	
PCSK6	5046	broad.mit.edu	37	15	101971646	101971646	+	Missense_Mutation	SNP	C	C	T	rs370069260		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:101971646C>T	ENST00000348070.1	-	5	532	c.533G>A	c.(532-534)cGc>cAc	p.R178H	PCSK6_ENST00000331826.7_Missense_Mutation_p.R13H|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R178H|PCSK6_ENST00000358417.3_Missense_Mutation_p.R178H|PCSK6_ENST00000398181.2_Missense_Mutation_p.R178H	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	179					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.R178H(3)		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)			CGACCGGCAGCGACTGTTCTT	0.527																																					p.S178S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G534A	15						.	T	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4168		0,0,2084	63.0	64.0	64.0		534,534,534,534,534,534,534,534	4.8	1.0	15		64	1,8433		0,1,4216	no	missense,missense,missense,missense,missense,missense,missense,missense	PCSK6	NM_002570.3,NM_138319.2,NM_138320.1,NM_138321.1,NM_138322.2,NM_138323.1,NM_138324.1,NM_138325.2	29,29,29,29,29,29,29,29	0,1,6300	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	179/970,179/957,179/976,179/963,179/488,179/624,179/653,179/665	101971646	1,12601	2084	4217	6301	99789169	SO:0001583	missense	5046	exon4				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.533G>A	15.37:g.101971646C>T	ENSP00000305056:p.Arg178His		99789169	NM_138322	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37		.	.	.	.	.	.	.	.	.	.	c	14.75	2.629658	0.46944	0.0	1.19E-4	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T;T	0.70749	0.92;0.92;-0.26;0.92;0.92;-0.51	5.67	4.76	0.60689	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.053107	0.85682	N	0.000000	T	0.68238	0.2979	N	0.10707	0.03	0.36438	D	0.865298	D;D;B;B;B;B;D;P;B	0.89917	1.0;0.998;0.038;0.211;0.134;0.134;1.0;0.5;0.119	D;P;B;B;B;B;D;B;B	0.78314	0.991;0.862;0.01;0.052;0.023;0.023;0.964;0.106;0.072	T	0.73442	-0.3981	10	0.29301	T	0.29	-42.069	13.9808	0.64304	0.0:0.9276:0.0:0.0724	.	179;84;178;179;178;178;179;179;178	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	H	178;178;83;178;178;13	ENSP00000305056:R178H;ENSP00000351193:R178H;ENSP00000381246:R83H;ENSP00000344410:R178H;ENSP00000381243:R178H;ENSP00000332052:R13H	ENSP00000332052:R13H	R	-	2	0	PCSK6	99789169	1.000000	0.71417	0.994000	0.49952	0.912000	0.54170	1.692000	0.37731	1.431000	0.47355	-0.119000	0.15052	CGC		0.527	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
OR4F15	390649	broad.mit.edu	37	15	102358805	102358805	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr15:102358805G>T	ENST00000332238.4	+	1	440	c.416G>T	c.(415-417)aGa>aTa	p.R139I		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATGAGCCCAAGAATGTGTCTA	0.443																																					p.R139I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416T	15						.						229.0	212.0	218.0					15																	102358805		2203	4300	6503	100176328	SO:0001583	missense	390649	exon1			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"""GPCR / Class A : Olfactory receptors"""	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.416G>T	15.37:g.102358805G>T	ENSP00000333184:p.Arg139Ile		100176328	NM_001001674	B2RNQ5|Q6IF57|Q96R70	Missense_Mutation	SNP	ENST00000332238.4	37	CCDS32342.1	.	.	.	.	.	.	.	.	.	.	.	12.40	1.928104	0.34002	.	.	ENSG00000182854	ENST00000332238	T	0.43294	0.95	5.57	0.346	0.16017	GPCR, rhodopsin-like superfamily (1);	0.424311	0.21782	N	0.069193	T	0.57975	0.2090	M	0.88570	2.965	0.09310	N	1	P	0.42078	0.77	P	0.52710	0.707	T	0.53351	-0.8451	9	.	.	.	.	8.5575	0.33489	0.559:0.0:0.441:0.0	.	139	Q8NGB8	O4F15_HUMAN	I	139	ENSP00000333184:R139I	.	R	+	2	0	OR4F15	100176328	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-0.510000	0.06328	-0.078000	0.12730	0.650000	0.86243	AGA		0.443	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417594.1	NM_001001674	
ADH6	130	broad.mit.edu	37	4	100126162	100126162	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:100126162C>A	ENST00000237653.7	-	8	1407	c.1023G>T	c.(1021-1023)ttG>ttT	p.L341F	ADH6_ENST00000407820.2_Missense_Mutation_p.L132F|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Nonstop_Mutation_p.*296L|ADH6_ENST00000394899.2_Missense_Mutation_p.L341F|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	341					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.L341F(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)	GATCTAGATTCAACTTCTCTG	0.358																																					p.L341F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1023T	4						.						153.0	145.0	148.0					4																	100126162		2203	4300	6503	100345185	SO:0001583	missense	130	exon8			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.1023G>T	4.37:g.100126162C>A	ENSP00000237653:p.Leu341Phe		100345185	NM_000672	B3KS45|Q58F53	Read-through	SNP	ENST00000237653.7	37	CCDS3647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.061|4.061	0.009088|0.009088	0.07912|0.07912	.|.	.|.	ENSG00000172955|ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653|ENST00000394897	T;T;T|.	0.06933|.	3.24;3.24;3.24|.	3.79|3.79	2.56|2.56	0.30785|0.30785	.|.	0.612730|.	0.17063|.	N|.	0.188484|.	T|.	0.31167|.	0.0788|.	N|N	0.17838|0.17838	0.53|0.53	0.34967|0.34967	D|D	0.752763|0.752763	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.0|.	T|.	0.30090|.	-0.9990|.	10|.	0.05525|.	T|.	0.97|.	-7.079|-7.079	5.5377|5.5377	0.17021|0.17021	0.6917:0.1588:0.1496:0.0|0.6917:0.1588:0.1496:0.0	.|.	218;341;341|.	B4DPD8;P28332;P28332-2|.	.;ADH6_HUMAN;.|.	F|L	341;132;341|296	ENSP00000378359:L341F;ENSP00000384997:L132F;ENSP00000237653:L341F|.	ENSP00000237653:L341F|.	L|X	-|-	3|2	2|2	ADH6|ADH6	100345185|100345185	0.058000|0.058000	0.20735|0.20735	0.044000|0.044000	0.18714|0.18714	0.010000|0.010000	0.07245|0.07245	0.596000|0.596000	0.24044|0.24044	0.423000|0.423000	0.26033|0.26033	-0.433000|-0.433000	0.05886|0.05886	TTG|TGA		0.358	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
ADH1B	125	broad.mit.edu	37	4	100240005	100240005	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:100240005C>A	ENST00000305046.8	-	2	124	c.57G>T	c.(55-57)aaG>aaT	p.K19N	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	19					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.K19N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AAAAGGGTTTCTTTACCTCCC	0.373																																					p.K19N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G57T	4						.						101.0	97.0	98.0					4																	100240005		2203	4300	6503	100459028	SO:0001583	missense	125	exon2			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.57G>T	4.37:g.100240005C>A	ENSP00000306606:p.Lys19Asn		100459028	NM_000668	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	0.029	-1.350700	0.01256	.	.	ENSG00000196616	ENST00000305046;ENST00000412614	T	0.03212	4.01	3.6	-7.2	0.01495	GroES-like (1);	0.891818	0.09641	N	0.774981	T	0.01387	0.0045	N	0.04162	-0.26	0.30357	N	0.784221	B	0.02656	0.0	B	0.06405	0.002	T	0.47032	-0.9148	10	0.14656	T	0.56	0.8647	5.9678	0.19334	0.2808:0.1862:0.4657:0.0673	.	19	P00325	ADH1B_HUMAN	N	19	ENSP00000306606:K19N	ENSP00000306606:K19N	K	-	3	2	ADH1B	100459028	0.000000	0.05858	0.006000	0.13384	0.895000	0.52256	-4.881000	0.00174	-2.316000	0.00645	-0.321000	0.08615	AAG		0.373	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
BANK1	55024	broad.mit.edu	37	4	102946432	102946432	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:102946432G>T	ENST00000322953.4	+	9	1634	c.1360G>T	c.(1360-1362)Gaa>Taa	p.E454*	BANK1_ENST00000444316.2_Nonsense_Mutation_p.E424*|BANK1_ENST00000508653.1_Nonsense_Mutation_p.E321*|BANK1_ENST00000504592.1_Nonsense_Mutation_p.E439*|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000428908.1_Nonsense_Mutation_p.E321*	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	454					B cell activation (GO:0042113)			p.E454*(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)		TGAGGCAAATGAAATGGAAGG	0.463																																					p.E454X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1360T	4						.						219.0	202.0	208.0					4																	102946432		2203	4300	6503	103165455	SO:0001587	stop_gained	55024	exon9			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.1360G>T	4.37:g.102946432G>T	ENSP00000320509:p.Glu454*		103165455	NM_017935	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Nonsense_Mutation	SNP	ENST00000322953.4	37	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234366	0.79800	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	.	.	.	4.59	1.88	0.25563	.	1.616790	0.03775	N	0.260344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	5.6275	0.17490	0.2497:0.1423:0.6079:0.0	.	.	.	.	X	439;454;321;321;424	.	ENSP00000320509:E454X	E	+	1	0	BANK1	103165455	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.078000	0.11375	0.132000	0.18615	-0.444000	0.05651	GAA		0.463	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935	
SLC9B1	150159	broad.mit.edu	37	4	103911024	103911024	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:103911024T>G	ENST00000296422.7	-	3	285	c.144A>C	c.(142-144)ccA>ccC	p.P48P	SLC9B1_ENST00000394789.3_Silent_p.P48P	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	48					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.P48P(1)									TTTTTGTCTGTGGTTTTATTT	0.299																																					p.P48P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A144C	4						.						181.0	161.0	168.0					4																	103911024		2201	4294	6495	104130473	SO:0001819	synonymous_variant	150159	exon3			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.144A>C	4.37:g.103911024T>G			104130473	NM_139173	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	CCDS34041.1																																																																																				0.299	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
CENPE	1062	broad.mit.edu	37	4	104068611	104068611	+	Missense_Mutation	SNP	A	A	C	rs548664264		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:104068611A>C	ENST00000265148.3	-	29	4125	c.4036T>G	c.(4036-4038)Tct>Gct	p.S1346A	CENPE_ENST00000380026.3_Missense_Mutation_p.S1321A	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1346					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.S1346A(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)		TTGGTTAGAGATTTTATCTCT	0.368																																					p.S1346A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4036G	4						.						148.0	141.0	143.0					4																	104068611		2203	4299	6502	104288060	SO:0001583	missense	1062	exon29			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.4036T>G	4.37:g.104068611A>C	ENSP00000265148:p.Ser1346Ala		104288060	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	8.219	0.802080	0.16397	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.73258	-0.73;-0.73	5.03	3.76	0.43208	.	.	.	.	.	T	0.59662	0.2210	M	0.61703	1.905	0.18873	N	0.999981	P;B	0.41673	0.759;0.024	B;B	0.37692	0.256;0.003	T	0.54255	-0.8321	9	0.05620	T	0.96	.	8.1957	0.31396	0.7971:0.2029:0.0:0.0	.	1321;1346	Q02224-3;Q02224	.;CENPE_HUMAN	A	1346;1346;1321	ENSP00000265148:S1346A;ENSP00000369365:S1321A	ENSP00000265148:S1346A	S	-	1	0	CENPE	104288060	0.000000	0.05858	0.990000	0.47175	0.962000	0.63368	-0.103000	0.10940	1.884000	0.54569	0.482000	0.46254	TCT		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TET2	54790	broad.mit.edu	37	4	106155525	106155525	+	Silent	SNP	C	C	T	rs540228872		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:106155525C>T	ENST00000540549.1	+	3	1286	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TET2_ENST00000380013.4_Silent_p.S142S|TET2_ENST00000394764.1_Silent_p.S142S|TET2_ENST00000513237.1_Silent_p.S163S|TET2_ENST00000413648.2_Silent_p.S142S|TET2_ENST00000305737.2_Silent_p.S142S|TET2_ENST00000545826.1_Silent_p.S142S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	142					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.S142S(1)		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)		CAAATGTCTCCGATTTGAGTG	0.398			"""Mis N, F"""		MDS								C|||	1	0.000199681	0.0	0.0	5008	,	,		20817	0.0		0.0	False		,,,				2504	0.001				p.S142S			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C426T	4						.						53.0	54.0	54.0					4																	106155525		2203	4300	6503	106374974	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.426C>T	4.37:g.106155525C>T			106374974	NM_017628	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	ENST00000540549.1	37	CCDS47120.1																																																																																				0.398	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628	
PPA2	27068	broad.mit.edu	37	4	106345476	106345476	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:106345476G>T	ENST00000341695.5	-	7	562	c.532C>A	c.(532-534)Ctt>Att	p.L178I	PPA2_ENST00000348706.5_Missense_Mutation_p.L149I|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000432483.2_Missense_Mutation_p.L76I|PPA2_ENST00000380004.2_Missense_Mutation_p.L160I|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000357415.4_Missense_Mutation_p.L193I|PPA2_ENST00000310267.7_Missense_Mutation_p.L99I	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	178					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.L178I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CCACAAGAAAGAATCTTTAAA	0.313																																					p.L149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C445A	4						.						54.0	55.0	54.0					4																	106345476		2203	4299	6502	106564925	SO:0001583	missense	27068	exon6				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.532C>A	4.37:g.106345476G>T	ENSP00000343885:p.Leu178Ile		106564925	NM_006903	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.76|10.76	1.440208|1.440208	0.25900|0.25900	.|.	.|.	ENSG00000138777|ENSG00000138777	ENST00000508518|ENST00000341695;ENST00000348706;ENST00000432483;ENST00000357415;ENST00000380004;ENST00000510015;ENST00000310267;ENST00000504028	.|T;T;T;T;T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.38|5.38	2.3|2.3	0.28687|0.28687	.|.	.|0.404148	.|0.30134	.|N	.|0.010337	T|T	0.32436|0.32436	0.0829|0.0829	L|L	0.56199|0.56199	1.76|1.76	0.23607|0.23607	N|N	0.997307|0.997307	.|B;B;B;B;B	.|0.31790	.|0.082;0.34;0.024;0.1;0.068	.|B;B;B;B;B	.|0.29862	.|0.065;0.108;0.022;0.038;0.063	T|T	0.15378|0.15378	-1.0439|-1.0439	5|10	.|0.22109	.|T	.|0.4	-29.8429|-29.8429	8.007|8.007	0.30332|0.30332	0.3876:0.0:0.6124:0.0|0.3876:0.0:0.6124:0.0	.|.	.|99;76;149;160;178	.|B4DFH3;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.|.;.;.;.;IPYR2_HUMAN	L|I	156|178;149;76;193;160;105;99;173	.|ENSP00000343885:L178I;ENSP00000313061:L149I;ENSP00000389957:L76I;ENSP00000349996:L193I;ENSP00000369340:L160I;ENSP00000423363:L105I;ENSP00000311150:L99I;ENSP00000421177:L173I	.|ENSP00000311150:L99I	F|L	-|-	3|1	2|0	PPA2|PPA2	106564925|106564925	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.548000|0.548000	0.35241|0.35241	1.547000|1.547000	0.36190|0.36190	0.211000|0.211000	0.20683|0.20683	-0.136000|-0.136000	0.14681|0.14681	TTC|CTT		0.313	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869	
CFI	3426	broad.mit.edu	37	4	110682704	110682704	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:110682704G>A	ENST00000394634.2	-	4	834	c.627C>T	c.(625-627)ttC>ttT	p.F209F	CFI_ENST00000394635.3_Silent_p.F209F|CFI_ENST00000512148.1_Silent_p.F209F	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	209	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.F209F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACATCAGCGAAATCCTGGT	0.393																																					p.F209F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C627T	4						.						158.0	147.0	151.0					4																	110682704		2203	4300	6503	110902153	SO:0001819	synonymous_variant	3426	exon4			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.627C>T	4.37:g.110682704G>A			110902153	NM_000204	O60442	Silent	SNP	ENST00000394634.2	37	CCDS34049.1																																																																																				0.393	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204	
ALPK1	80216	broad.mit.edu	37	4	113352015	113352015	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:113352015G>A	ENST00000458497.1	+	11	1591	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	ALPK1_ENST00000504176.2_Missense_Mutation_p.E360K|ALPK1_ENST00000177648.9_Missense_Mutation_p.E438K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	438							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E438K(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGAGAGTTTCGAGTGCAGGTT	0.413																																					p.E438K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	4						.						103.0	102.0	103.0					4																	113352015		2203	4300	6503	113571464	SO:0001583	missense	80216	exon11			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1312G>A	4.37:g.113352015G>A	ENSP00000398048:p.Glu438Lys		113571464	NM_025144	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.618513	0.00828	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.36699	1.24;1.24;1.24	5.72	-1.59	0.08453	.	0.455087	0.24321	N	0.039556	T	0.04634	0.0126	N	0.00116	-2.08	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34950	-0.9808	10	0.02654	T	1	-3.2445	2.7251	0.05211	0.4051:0.3539:0.1273:0.1137	.	360;360;438	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	K	438;438;360	ENSP00000398048:E438K;ENSP00000177648:E438K;ENSP00000426044:E360K	ENSP00000177648:E438K	E	+	1	0	ALPK1	113571464	0.000000	0.05858	0.005000	0.12908	0.110000	0.19582	0.347000	0.20014	-0.471000	0.06891	-0.285000	0.09966	GAG		0.413	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
LARP7	51574	broad.mit.edu	37	4	113568042	113568042	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:113568042T>G	ENST00000344442.5	+	5	761	c.483T>G	c.(481-483)tcT>tcG	p.S161S	MIR302A_ENST00000385192.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Silent_p.S168S|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Silent_p.S161S|MIR302D_ENST00000362275.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	161	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S161S(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ATTATAAGTCTACTGGAGATC	0.333																																					p.S161S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T483G	4						.						91.0	93.0	92.0					4																	113568042		1813	4083	5896	113787491	SO:0001819	synonymous_variant	51574	exon5			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.483T>G	4.37:g.113568042T>G			113787491	NM_016648	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Silent	SNP	ENST00000344442.5	37	CCDS3701.2																																																																																				0.333	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648	
ANK2	287	broad.mit.edu	37	4	114232525	114232525	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:114232525G>A	ENST00000357077.4	+	24	2716	c.2663G>A	c.(2662-2664)cGa>cAa	p.R888Q	ANK2_ENST00000264366.6_Missense_Mutation_p.R888Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R867Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R97Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R888Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	888					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R888Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATTACCTGCGATACAGCTTG	0.428																																					p.R888Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2663A	4						.						148.0	123.0	131.0					4																	114232525		2203	4300	6503	114451974	SO:0001583	missense	287	exon24			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2663G>A	4.37:g.114232525G>A	ENSP00000349588:p.Arg888Gln		114451974	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078230	0.55753	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.77098	-0.2;-0.09;-0.28;-0.19;-0.31;-0.31;-0.38;-1.07	5.15	5.15	0.70609	.	0.000000	0.47852	D	0.000213	T	0.73481	0.3592	M	0.61703	1.905	0.80722	D	1	B;P;P;P;P;P	0.45902	0.414;0.868;0.599;0.868;0.844;0.681	B;B;B;B;B;B	0.36134	0.016;0.155;0.194;0.218;0.114;0.116	T	0.73827	-0.3860	10	0.23891	T	0.37	.	19.0034	0.92842	0.0:0.0:1.0:0.0	.	97;888;888;888;867;867	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	Q	867;834;867;903;888;888;888;867;97	ENSP00000423799:R867Q;ENSP00000421011:R834Q;ENSP00000421067:R867Q;ENSP00000424722:R903Q;ENSP00000378044:R888Q;ENSP00000349588:R888Q;ENSP00000264366:R888Q;ENSP00000426944:R97Q	ENSP00000264366:R888Q	R	+	2	0	ANK2	114451974	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	9.299000	0.96137	2.547000	0.85894	0.655000	0.94253	CGA		0.428	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114238867	114238867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:114238867C>T	ENST00000357077.4	+	25	2751	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	ANK2_ENST00000264366.6_Nonsense_Mutation_p.R900*|ANK2_ENST00000506722.1_Nonsense_Mutation_p.R879*|ANK2_ENST00000509550.1_Nonsense_Mutation_p.R109*|ANK2_ENST00000394537.3_Nonsense_Mutation_p.R900*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	900					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R900*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACCAGCCTTCGATCCTTCAG	0.537																																					p.R900X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2698T	4						.						157.0	127.0	137.0					4																	114238867		2203	4300	6503	114458316	SO:0001587	stop_gained	287	exon25			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2698C>T	4.37:g.114238867C>T	ENSP00000349588:p.Arg900*		114458316	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	43	10.355041	0.99390	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.	.	.	6.06	6.06	0.98353	.	0.000000	0.47093	D	0.000241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	879;846;879;915;900;900;900;879;109	.	ENSP00000264366:R900X	R	+	1	2	ANK2	114458316	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	4.732000	0.62029	2.880000	0.98712	0.650000	0.86243	CGA		0.537	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2028					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463																																					p.R2028W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6082T	4						.						40.0	47.0	45.0					4																	114275856		2201	4298	6499	114495305	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6082C>T	4.37:g.114275856C>T	ENSP00000349588:p.Arg2028Trp		114495305	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397761	0.42512	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68765	-0.34;-0.35	5.53	4.67	0.58626	.	0.129029	0.35013	N	0.003515	T	0.72120	0.3421	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.72154	-0.4376	9	.	.	.	.	11.0813	0.48062	0.129:0.8023:0.0:0.0687	.	1995;2028	Q01484;Q01484-4	ANK2_HUMAN;.	W	2028;1995	ENSP00000349588:R2028W;ENSP00000264366:R1995W	.	R	+	1	2	ANK2	114495305	0.053000	0.20554	0.073000	0.20177	0.268000	0.26511	1.651000	0.37302	1.407000	0.46875	0.563000	0.77884	CGG		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
NDST3	9348	broad.mit.edu	37	4	118975587	118975587	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:118975587C>A	ENST00000296499.5	+	2	925	c.522C>A	c.(520-522)agC>agA	p.S174R	NDST3_ENST00000433996.2_Missense_Mutation_p.S174R	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	174	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.S174R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTGTACAGAGCTTTCAGTTAA	0.363																																					p.S174R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C522A	4						.						69.0	68.0	68.0					4																	118975587		2203	4299	6502	119195035	SO:0001583	missense	9348	exon2			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.522C>A	4.37:g.118975587C>A	ENSP00000296499:p.Ser174Arg		119195035	NM_004784	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940751	0.34283	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46063	1.22;0.88	5.3	1.64	0.23874	.	0.271009	0.45361	D	0.000373	T	0.38321	0.1036	L	0.46157	1.445	0.35525	D	0.801768	B;B;P	0.49090	0.425;0.425;0.919	B;P;B	0.48227	0.31;0.571;0.414	T	0.42932	-0.9422	10	0.30854	T	0.27	.	8.5133	0.33231	0.0:0.5453:0.0:0.4547	.	174;174;174	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	R	174	ENSP00000296499:S174R;ENSP00000396625:S174R	ENSP00000296499:S174R	S	+	3	2	NDST3	119195035	0.009000	0.17119	0.999000	0.59377	0.975000	0.68041	0.253000	0.18296	0.232000	0.21100	0.655000	0.94253	AGC		0.363	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784	
METTL14	57721	broad.mit.edu	37	4	119615606	119615606	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:119615606T>G	ENST00000388822.5	+	6	595	c.428T>G	c.(427-429)tTt>tGt	p.F143C	METTL14_ENST00000506780.1_Missense_Mutation_p.F105C			Q9HCE5	MET14_HUMAN	methyltransferase like 14	143					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.F143C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GCTGACAGATTTGAAGAATAT	0.343																																					p.F143C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T428G	4						.						93.0	96.0	95.0					4																	119615606		2203	4300	6503	119835054	SO:0001583	missense	57721	exon6			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.428T>G	4.37:g.119615606T>G	ENSP00000373474:p.Phe143Cys		119835054	NM_020961	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	N	21.4	4.140347	0.77775	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.78692	-0.2105	9	0.59425	D	0.04	-1.7863	15.7609	0.78080	0.0:0.0:0.0:1.0	.	105;143	D6RBL4;Q9HCE5	.;MTL14_HUMAN	C	143;105	.	ENSP00000373474:F143C	F	+	2	0	METTL14	119835054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.331000	0.79192	2.132000	0.65825	0.377000	0.23210	TTT		0.343	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961	
NDNF	79625	broad.mit.edu	37	4	121957422	121957422	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:121957422A>G	ENST00000379692.4	-	4	2230	c.1704T>C	c.(1702-1704)tgT>tgC	p.C568C	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	568					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.C568C(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						AAGGTAACTAACAGAACTTTC	0.388																																					p.C568C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1704C	4						.						98.0	109.0	105.0					4																	121957422		2203	4300	6503	122176872	SO:0001819	synonymous_variant	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.1704T>C	4.37:g.121957422A>G			122176872	NM_024574	A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	ENST00000379692.4	37	CCDS3717.2																																																																																				0.388	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574	
TNIP3	79931	broad.mit.edu	37	4	122068308	122068308	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:122068308A>C	ENST00000509841.1	-	10	940	c.862T>G	c.(862-864)Ttc>Gtc	p.F288V	TNIP3_ENST00000454328.1_Missense_Mutation_p.F211V|TNIP3_ENST00000507879.1_Missense_Mutation_p.F281V|TNIP3_ENST00000057513.3_Missense_Mutation_p.F211V|TNIP3_ENST00000511909.1_5'UTR	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.F211V(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TCCTTTTTGAAGTCTTCTTCG	0.363																																					p.F211V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T631G	4						.						177.0	173.0	174.0					4																	122068308		2203	4300	6503	122287758	SO:0001583	missense	79931	exon9			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.862T>G	4.37:g.122068308A>C	ENSP00000426613:p.Phe288Val		122287758	NM_001128843		Missense_Mutation	SNP	ENST00000509841.1	37	CCDS58926.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202252	0.79127	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.98406	0.9470	M	0.84326	2.69	0.36819	D	0.886293	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99968	1.1908	10	0.87932	D	0	-10.7028	15.4209	0.75009	1.0:0.0:0.0:0.0	.	281;211	B4DVF5;Q96KP6	.;TNIP3_HUMAN	V	211;211;281;288	ENSP00000057513:F211V;ENSP00000411817:F211V;ENSP00000427106:F281V;ENSP00000426613:F288V	ENSP00000057513:F211V	F	-	1	0	TNIP3	122287758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	2.053000	0.61076	0.460000	0.39030	TTC		0.363	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
KIAA1109	84162	broad.mit.edu	37	4	123122189	123122189	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:123122189G>A	ENST00000264501.4	+	15	1779	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R469Q|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R469Q			Q2LD37	K1109_HUMAN	KIAA1109	469					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R469Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCTACCCCCGAATATGGAAC	0.378																																					p.R469Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406A	4						.						92.0	85.0	87.0					4																	123122189		1904	4133	6037	123341639	SO:0001583	missense	84162	exon13			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1406G>A	4.37:g.123122189G>A	ENSP00000264501:p.Arg469Gln		123341639	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213652	0.95069	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.93953	-3.32;-3.32;-3.32	5.93	5.93	0.95920	.	0.177349	0.35495	U	0.003167	D	0.94994	0.8380	L	0.47716	1.5	0.45733	D	0.998639	D	0.89917	1.0	P	0.59546	0.859	D	0.94362	0.7588	10	0.51188	T	0.08	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	469	Q2LD37	K1109_HUMAN	Q	469	ENSP00000264501:R469Q;ENSP00000373390:R469Q;ENSP00000389925:R469Q	ENSP00000264501:R469Q	R	+	2	0	KIAA1109	123341639	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	7.749000	0.85096	2.798000	0.96311	0.655000	0.94253	CGA		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123283194	123283194	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:123283194C>A	ENST00000264501.4	+	86	15183	c.14810C>A	c.(14809-14811)tCt>tAt	p.S4937Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S4937Y			Q2LD37	K1109_HUMAN	KIAA1109	4937					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4937Y(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGATTAATTTCTTGGACTGGA	0.323																																					p.S4937Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C14810A	4						.						70.0	69.0	69.0					4																	123283194		1799	4069	5868	123502644	SO:0001583	missense	84162	exon84			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14810C>A	4.37:g.123283194C>A	ENSP00000264501:p.Ser4937Tyr		123502644	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.035433|4.035433	0.75617|0.75617	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.52526	.|0.66;0.66;0.66	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Fragile site-associated protein, C-terminal (1);	.|0.055003	.|0.85682	.|D	.|0.000000	T|T	0.70202|0.70202	0.3197|0.3197	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.994;0.997	.|D;D	.|0.83275	.|0.967;0.996	T|T	0.74074|0.74074	-0.3782|-0.3782	5|10	.|0.72032	.|D	.|0.01	.|.	18.5514|18.5514	0.91066|0.91066	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4936;4937	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	I|Y	1313|4937;4937;1606;538	.|ENSP00000264501:S4937Y;ENSP00000373390:S4937Y;ENSP00000410874:S1606Y	.|ENSP00000264501:S4937Y	L|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123502644|123502644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.673000|7.673000	0.83973|0.83973	2.407000|2.407000	0.81776|0.81776	0.591000|0.591000	0.81541|0.81541	CTT|TCT		0.323	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ADAD1	132612	broad.mit.edu	37	4	123317451	123317451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:123317451G>T	ENST00000296513.2	+	7	828	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	ADAD1_ENST00000388724.2_Nonsense_Mutation_p.E215*|ADAD1_ENST00000388725.2_Nonsense_Mutation_p.E197*|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	215					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.E215*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATCGTTAAAGAAAGATTTAA	0.323																																					p.E215X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G643T	4						.						59.0	66.0	63.0					4																	123317451		2201	4290	6491	123536901	SO:0001587	stop_gained	132612	exon7			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.643G>T	4.37:g.123317451G>T	ENSP00000296513:p.Glu215*		123536901	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Nonsense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171155	0.94807	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	.	.	.	6.05	6.05	0.98169	.	0.335080	0.34484	N	0.003933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.7019	19.3801	0.94529	0.0:0.0:1.0:0.0	.	.	.	.	X	215;215;215;197	.	ENSP00000296513:E215X	E	+	1	0	ADAD1	123536901	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.948000	0.49066	2.880000	0.98712	0.655000	0.94253	GAA		0.323	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
ANKRD50	57182	broad.mit.edu	37	4	125592877	125592877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:125592877G>A	ENST00000504087.1	-	4	2592	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R340*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	519								p.R519*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGGCTTGTCGAACTATGCAT	0.418																																					p.R340X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1018T	4						.						116.0	111.0	113.0					4																	125592877		2203	4300	6503	125812327	SO:0001587	stop_gained	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1555C>T	4.37:g.125592877G>A	ENSP00000425658:p.Arg519*		125812327	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	46	12.320697	0.99657	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	4.74	3.88	0.44766	.	0.079809	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	13.4277	0.61035	0.0:0.0:0.618:0.3819	.	.	.	.	X	519;340	.	ENSP00000425658:R519X	R	-	1	2	ANKRD50	125812327	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.909000	0.56363	1.183000	0.42943	0.555000	0.69702	CGA		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126389779	126389779	+	Silent	SNP	G	G	A	rs368157923		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:126389779G>A	ENST00000394329.3	+	11	12025	c.12012G>A	c.(12010-12012)acG>acA	p.T4004T	FAT4_ENST00000335110.5_Silent_p.T2267T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4004	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.T4004T(1)|p.T3969T(1)		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						AATTTGCCACGATTAAAAGTC	0.398																																					p.T4004T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G12012A	4						.	G		0,4406		0,0,2203	75.0	74.0	74.0		12012	-6.9	0.8	4		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAT4	NM_024582.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		4004/4982	126389779	1,13005	2203	4300	6503	126609229	SO:0001819	synonymous_variant	79633	exon11			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.12012G>A	4.37:g.126389779G>A			126609229	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126412823	126412823	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:126412823A>C	ENST00000394329.3	+	17	14859	c.14846A>C	c.(14845-14847)gAt>gCt	p.D4949A	FAT4_ENST00000335110.5_Missense_Mutation_p.D3190A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4949					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.D4949A(1)|p.D4892A(1)		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						GTTTTTAAAGATTTGGCATCT	0.473																																					p.D4949A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A14846C	4						.						50.0	51.0	51.0					4																	126412823		2203	4300	6503	126632273	SO:0001583	missense	79633	exon17			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.14846A>C	4.37:g.126412823A>C	ENSP00000377862:p.Asp4949Ala		126632273	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	14.70	2.612573	0.46631	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.88431	-2.13;-2.38	4.98	4.98	0.66077	.	0.000000	0.35378	U	0.003259	D	0.93749	0.8002	M	0.75777	2.31	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	D	0.94442	0.7659	10	0.87932	D	0	.	13.8827	0.63691	1.0:0.0:0.0:0.0	.	3190;4949;4948	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4949;3190	ENSP00000377862:D4949A;ENSP00000335169:D3190A	ENSP00000335169:D3190A	D	+	2	0	FAT4	126632273	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.145000	0.94634	1.877000	0.54381	0.397000	0.26171	GAT		0.473	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
HSPA4L	22824	broad.mit.edu	37	4	128719816	128719816	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:128719816G>T	ENST00000296464.4	+	4	792	c.381G>T	c.(379-381)gaG>gaT	p.E127D	HSPA4L_ENST00000508776.1_Missense_Mutation_p.E127D|HSPA4L_ENST00000505726.1_Missense_Mutation_p.E101D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E158D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	127					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.E127D(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGCTTAAAGAGACTTCAGAAA	0.363																																					p.E127D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G381T	4						.						142.0	142.0	142.0					4																	128719816		2203	4300	6503	128939266	SO:0001583	missense	22824	exon4			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.381G>T	4.37:g.128719816G>T	ENSP00000296464:p.Glu127Asp		128939266	NM_014278	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945888	0.53079	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	4.59	2.88	0.33553	.	0.124348	0.53938	D	0.000058	T	0.02848	0.0085	L	0.35793	1.09	0.41159	D	0.986088	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.64546	-0.6382	10	0.30078	T	0.28	.	8.2931	0.31969	0.2408:0.0:0.7592:0.0	.	101;127	E9PDE8;O95757	.;HS74L_HUMAN	D	127;158;127;101	ENSP00000422482:E127D;ENSP00000393926:E158D;ENSP00000296464:E127D;ENSP00000425645:E101D	ENSP00000296464:E127D	E	+	3	2	HSPA4L	128939266	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.828000	0.48120	0.583000	0.29574	-0.145000	0.13849	GAG		0.363	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
SCLT1	132320	broad.mit.edu	37	4	129857970	129857970	+	Missense_Mutation	SNP	G	G	A	rs201434760		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:129857970G>A	ENST00000281142.5	-	18	2172	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	557					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.R557C(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAAATCCACGTTCCTTTATT	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		18048	0.0		0.001	False		,,,				2504	0.0				p.R557C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1669T	4						.						83.0	74.0	77.0					4																	129857970		2203	4300	6503	130077420	SO:0001583	missense	132320	exon18			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1669C>T	4.37:g.129857970G>A	ENSP00000281142:p.Arg557Cys		130077420	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.51	1.960191	0.34565	.	.	ENSG00000151466	ENST00000281142	T	0.51325	0.71	4.85	4.85	0.62838	.	0.363123	0.32819	N	0.005617	T	0.29684	0.0741	N	0.14661	0.345	0.80722	D	1	P	0.49447	0.924	B	0.36885	0.235	T	0.10636	-1.0621	9	.	.	.	-1.6181	17.9433	0.89031	0.0:0.0:1.0:0.0	.	557	Q96NL6	SCLT1_HUMAN	C	557	ENSP00000281142:R557C	.	R	-	1	0	SCLT1	130077420	1.000000	0.71417	0.948000	0.38648	0.043000	0.13939	6.060000	0.71141	2.403000	0.81681	0.591000	0.81541	CGT		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
BOD1L1	259282	broad.mit.edu	37	4	13571645	13571645	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:13571645G>A	ENST00000040738.5	-	26	9281	c.9146C>T	c.(9145-9147)gCg>gTg	p.A3049V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	3049						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A3049V(1)									TTATCGCTTCGCTTTTTTCAC	0.552																																					p.A3049V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9146T	4						.						150.0	127.0	135.0					4																	13571645		2203	4300	6503	13180743	SO:0001583	missense	259282	exon26			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.9146C>T	4.37:g.13571645G>A	ENSP00000040738:p.Ala3049Val		13180743	NM_148894	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.476506|2.476506	0.44044|0.44044	.|.	.|.	ENSG00000038219|ENSG00000038219	ENST00000040738|ENST00000507943	T|.	0.16743|.	2.32|.	4.85|4.85	4.01|4.01	0.46588|0.46588	.|.	0.000000|.	0.53938|.	D|.	0.000052|.	T|.	0.49270|.	0.1547|.	L|L	0.36672|0.36672	1.1|1.1	0.35827|0.35827	D|D	0.825057|0.825057	P|.	0.48230|.	0.907|.	B|.	0.29176|.	0.099|.	T|.	0.55471|.	-0.8136|.	10|.	0.87932|.	D|.	0|.	-6.4719|-6.4719	11.5893|11.5893	0.50938|0.50938	0.0841:0.0:0.9159:0.0|0.0841:0.0:0.9159:0.0	.|.	3049|.	Q8NFC6|.	BOD1L_HUMAN|.	V|X	3049|205	ENSP00000040738:A3049V|.	ENSP00000040738:A3049V|.	A|R	-|-	2|1	0|2	BOD1L|BOD1L	13180743|13180743	0.961000|0.961000	0.32948|0.32948	0.780000|0.780000	0.31762|0.31762	0.924000|0.924000	0.55760|0.55760	4.388000|4.388000	0.59633|0.59633	1.158000|1.158000	0.42547|0.42547	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.552	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
SCLT1	132320	broad.mit.edu	37	4	129913325	129913325	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:129913325A>C	ENST00000281142.5	-	9	1186	c.683T>G	c.(682-684)cTt>cGt	p.L228R	SCLT1_ENST00000434680.1_Missense_Mutation_p.L228R|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Missense_Mutation_p.L205R	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	228					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.L228R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAAATACCTAAGTTTTTTTCG	0.318																																					p.L228R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T683G	4						.						58.0	55.0	56.0					4																	129913325		2200	4292	6492	130132775	SO:0001583	missense	132320	exon9			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.683T>G	4.37:g.129913325A>C	ENSP00000281142:p.Leu228Arg		130132775	NM_144643	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746150	0.49151	.	.	ENSG00000151466	ENST00000281142;ENST00000434680;ENST00000503215	T;T;T	0.09817	2.94;2.94;2.94	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.27489	0.0675	M	0.68952	2.095	0.52501	D	0.999951	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.938	T	0.00931	-1.1510	9	.	.	.	.	9.7744	0.40609	0.8457:0.0:0.0:0.1543	.	228;228	Q96NL6-2;Q96NL6	.;SCLT1_HUMAN	R	228;228;205	ENSP00000281142:L228R;ENSP00000401539:L228R;ENSP00000424029:L205R	.	L	-	2	0	SCLT1	130132775	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	2.980000	0.49321	1.976000	0.57569	0.528000	0.53228	CTT		0.318	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
PCDH10	57575	broad.mit.edu	37	4	134084132	134084132	+	Splice_Site	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:134084132G>A	ENST00000264360.5	+	4	3624	c.2798G>A	c.(2797-2799)gGt>gAt	p.G933D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	933					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G933D(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)		CTGCTTACAGGTATGGATCTC	0.463																																					p.G933D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2798A	4						.						144.0	121.0	128.0					4																	134084132		2203	4300	6503	134303582	SO:0001630	splice_region_variant	57575	exon4			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.2798-1G>A	4.37:g.134084132G>A			134303582	NM_032961	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508795	0.44660	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55760	0.5	4.94	4.94	0.65067	.	0.187789	0.25964	N	0.027167	T	0.44685	0.1305	N	0.05351	-0.065	0.58432	D	0.999997	D	0.57899	0.981	P	0.52109	0.69	T	0.40813	-0.9543	9	.	.	.	.	18.3153	0.90218	0.0:0.0:1.0:0.0	.	933	Q9P2E7	PCD10_HUMAN	D	933	ENSP00000264360:G933D	.	G	+	2	0	PCDH10	134303582	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.309000	0.78937	2.717000	0.92951	0.650000	0.86243	GGT		0.463	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	Missense_Mutation
PCDH18	54510	broad.mit.edu	37	4	138449934	138449934	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:138449934T>C	ENST00000344876.4	-	2	2914	c.2528A>G	c.(2527-2529)tAt>tGt	p.Y843C	PCDH18_ENST00000412923.2_Missense_Mutation_p.Y842C|PCDH18_ENST00000510305.1_Missense_Mutation_p.Y54C|PCDH18_ENST00000507846.1_Missense_Mutation_p.Y622C|PCDH18_ENST00000511115.1_Missense_Mutation_p.Y23C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	843					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.Y843C(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)					TCTTGGCTGATATTGCCCCTG	0.408																																					p.Y843C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2528G	4						.						130.0	141.0	138.0					4																	138449934		2203	4300	6503	138669384	SO:0001583	missense	54510	exon2			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.2528A>G	4.37:g.138449934T>C	ENSP00000355082:p.Tyr843Cys		138669384	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667949	0.88348	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.55413	0.65;0.63;0.52;1.29;1.21	5.03	5.03	0.67393	.	0.000000	0.39475	N	0.001357	T	0.68165	0.2971	L	0.57536	1.79	0.80722	D	1	D;D;B;D	0.89917	1.0;0.999;0.161;0.998	D;P;B;P	0.81914	0.995;0.894;0.052;0.818	T	0.69371	-0.5163	10	0.49607	T	0.09	.	14.9405	0.70989	0.0:0.0:0.0:1.0	.	23;622;842;843	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	C	843;842;622;54;23	ENSP00000355082:Y843C;ENSP00000390688:Y842C;ENSP00000425903:Y622C;ENSP00000424269:Y54C;ENSP00000425647:Y23C	ENSP00000355082:Y843C	Y	-	2	0	PCDH18	138669384	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.819000	0.86621	2.108000	0.64289	0.533000	0.62120	TAT		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452983	138452983	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:138452983C>A	ENST00000344876.4	-	1	646	c.260G>T	c.(259-261)aGc>aTc	p.S87I	PCDH18_ENST00000412923.2_Missense_Mutation_p.S87I|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	87	Cadherin 1. {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.S87I(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)					AGCCCCTATGCTGATTTCCCC	0.433																																					p.S87I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260T	4						.						171.0	168.0	169.0					4																	138452983		2203	4300	6503	138672433	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.260G>T	4.37:g.138452983C>A	ENSP00000355082:p.Ser87Ile		138672433	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611708	0.28712	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.26518	1.73;1.73	5.96	5.07	0.68467	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.51477	U	0.000085	T	0.44456	0.1294	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.986;0.999	T	0.13019	-1.0525	10	0.13853	T	0.58	.	12.4034	0.55426	0.1318:0.7411:0.1272:0.0	.	87;87	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	I	87	ENSP00000355082:S87I;ENSP00000390688:S87I	ENSP00000355082:S87I	S	-	2	0	PCDH18	138672433	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	4.797000	0.62503	2.831000	0.97527	0.650000	0.86243	AGC		0.433	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
SMARCA5	8467	broad.mit.edu	37	4	144447611	144447611	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:144447611A>C	ENST00000283131.3	+	6	1261	c.799A>C	c.(799-801)Aga>Cga	p.R267R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	267	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.R267R(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)					TAAAGAACAAAGAGTAAGTTT	0.358																																					p.R267R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A799C	4						.						74.0	79.0	77.0					4																	144447611		2203	4300	6503	144667061	SO:0001819	synonymous_variant	8467	exon6			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.799A>C	4.37:g.144447611A>C			144667061	NM_003601		Silent	SNP	ENST00000283131.3	37	CCDS3761.1																																																																																				0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
GYPE	2996	broad.mit.edu	37	4	144797948	144797948	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:144797948A>G	ENST00000358615.4	-	3	248	c.197T>C	c.(196-198)gTt>gCt	p.V66A	GYPE_ENST00000437468.2_Missense_Mutation_p.V66A	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)	66						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V66A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CATTCCAACAACAACAAGCAT	0.373																																					p.V66A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T197C	4						.						123.0	117.0	119.0					4																	144797948		2002	4206	6208	145017398	SO:0001583	missense	2996	exon3				CCDS47138.1	4q31.21	2010-01-19	2010-01-19		ENSG00000197465	ENSG00000197465		"""Blood group antigens"""	4705	protein-coding gene	gene with protein product		138590	"""glycophorin E"""				Standard	NM_198682		Approved	GPE, MNS	uc003ijj.3	P15421	OTTHUMG00000161402	ENST00000358615.4:c.197T>C	4.37:g.144797948A>G	ENSP00000351430:p.Val66Ala		145017398	NM_002102	D3DNZ5	Missense_Mutation	SNP	ENST00000358615.4	37	CCDS47138.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247999	0.22880	.	.	ENSG00000197465	ENST00000358615;ENST00000437468	T;T	0.04654	3.58;3.58	1.8	1.8	0.24995	.	.	.	.	.	T	0.03053	0.0090	.	.	.	0.09310	N	1	P	0.39424	0.673	B	0.26614	0.071	T	0.43015	-0.9417	8	0.87932	D	0	.	5.6804	0.17771	1.0:0.0:0.0:0.0	.	66	P15421	GLPE_HUMAN	A	66	ENSP00000351430:V66A;ENSP00000400698:V66A	ENSP00000351430:V66A	V	-	2	0	GYPE	145017398	0.023000	0.18921	0.001000	0.08648	0.001000	0.01503	3.545000	0.53648	1.084000	0.41184	0.163000	0.16589	GTT		0.373	GYPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364780.1	NM_002102	
C1QTNF7	114905	broad.mit.edu	37	4	15444217	15444217	+	Missense_Mutation	SNP	G	G	A	rs150080048		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:15444217G>A	ENST00000444304.2	+	3	990	c.664G>A	c.(664-666)Gac>Aac	p.D222N	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.D229N|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.D222N			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	222	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAAGACCTTCGACGCCAACAC	0.458																																					p.D222N												.	.	0			c.G664A	4						.	G	ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	103.0	107.0	106.0		685,664,664	6.0	0.8	4	dbSNP_134	106	0,8600		0,0,4300	no	missense,missense,missense	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	23,23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	229/297,222/290,222/290	15444217	1,13005	2203	4300	6503	15053315	SO:0001583	missense	114905	exon3			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.664G>A	4.37:g.15444217G>A	ENSP00000388914:p.Asp222Asn		15053315	NM_031911	B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016503	0.93404	2.27E-4	0.0	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.76448	-1.02;-1.02;-1.02	6.02	6.02	0.97574	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.90324	0.6973	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89958	0.4084	9	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	222	Q9BXJ2	C1QT7_HUMAN	N	229;222;222	ENSP00000295297:D229N;ENSP00000410722:D222N;ENSP00000388914:D222N	.	D	+	1	0	C1QTNF7	15053315	1.000000	0.71417	0.849000	0.33467	0.743000	0.42351	9.830000	0.99415	2.865000	0.98341	0.655000	0.94253	GAC		0.458	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2		
PRMT9	90826	broad.mit.edu	37	4	148559835	148559835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:148559835C>A	ENST00000322396.6	-	12	2628	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Nonsense_Mutation_p.E683*	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		796	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.E796*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CTAATCTCTTCATCAAGGTAC	0.378																																					p.E796X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2386T	4						.						87.0	79.0	82.0					4																	148559835		2203	4300	6503	148779285	SO:0001587	stop_gained	90826	exon12																														ENST00000322396.6:c.2386G>T	4.37:g.148559835C>A	ENSP00000314396:p.Glu796*		148779285	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	40	7.932973	0.98568	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.66	5.66	0.87406	.	0.452281	0.27072	N	0.021061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.5649	19.7417	0.96234	0.0:1.0:0.0:0.0	.	.	.	.	X	796;683	.	ENSP00000314396:E796X	E	-	1	0	PRMT10	148779285	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.553000	0.53713	2.665000	0.90641	0.650000	0.86243	GAA		0.378	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
LRBA	987	broad.mit.edu	37	4	151773687	151773687	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:151773687C>T	ENST00000357115.3	-	23	3418	c.3175G>A	c.(3175-3177)Gct>Act	p.A1059T	LRBA_ENST00000535741.1_Missense_Mutation_p.A1059T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1059T|LRBA_ENST00000507224.1_Missense_Mutation_p.A1059T	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1059						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1059T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAGGAAATAGCCACAGCTTCT	0.383																																					p.A1059T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3175A	4						.						90.0	88.0	89.0					4																	151773687		2203	4300	6503	151993137	SO:0001583	missense	987	exon23			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3175G>A	4.37:g.151773687C>T	ENSP00000349629:p.Ala1059Thr		151993137	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.270291	0.00257	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54479	0.98;1.14;0.99;0.57	5.25	2.83	0.33086	.	2.433590	0.01553	N	0.019774	T	0.26122	0.0637	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.33394	-0.9870	10	0.09843	T	0.71	.	7.3616	0.26750	0.0:0.3651:0.0:0.6349	.	1059;1059	P50851;P50851-2	LRBA_HUMAN;.	T	1059	ENSP00000446299:A1059T;ENSP00000421552:A1059T;ENSP00000349629:A1059T;ENSP00000422180:A1059T	ENSP00000349629:A1059T	A	-	1	0	LRBA	151993137	0.005000	0.15991	0.024000	0.17045	0.083000	0.17756	0.596000	0.24044	0.191000	0.20236	-0.254000	0.11334	GCT		0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FBXW7	55294	broad.mit.edu	37	4	153332915	153332915	+	Missense_Mutation	SNP	C	C	T	rs200698994		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:153332915C>T	ENST00000281708.4	-	2	1270	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000604872.1_Missense_Mutation_p.R14Q|FBXW7_ENST00000603841.1_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		
TMEM154	201799	broad.mit.edu	37	4	153573888	153573888	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:153573888A>C	ENST00000304385.3	-	2	487	c.256T>G	c.(256-258)Tta>Gta	p.L86V	TMEM154_ENST00000504064.1_Missense_Mutation_p.L86V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	86						integral component of membrane (GO:0016021)		p.L86V(1)		kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGGACCAATAAAATCAATGGG	0.313																																					p.L86V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T256G	4						.						105.0	106.0	105.0					4																	153573888		2203	4300	6503	153793338	SO:0001583	missense	201799	exon2			AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.256T>G	4.37:g.153573888A>C	ENSP00000302144:p.Leu86Val		153793338	NM_152680	Q8WUT7|Q96MQ8	Missense_Mutation	SNP	ENST00000304385.3	37	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.403424	0.42613	.	.	ENSG00000170006	ENST00000304385;ENST00000504064	T;T	0.38560	1.13;1.13	6.01	2.33	0.28932	.	0.749683	0.11718	N	0.536181	T	0.42086	0.1187	L	0.44542	1.39	0.09310	N	1	D	0.61697	0.99	P	0.55011	0.766	T	0.18461	-1.0336	10	0.25106	T	0.35	-14.7236	4.3458	0.11133	0.6445:0.1808:0.1747:0.0	.	86	Q6P9G4	TM154_HUMAN	V	86	ENSP00000302144:L86V;ENSP00000422156:L86V	ENSP00000302144:L86V	L	-	1	2	TMEM154	153793338	0.006000	0.16342	0.001000	0.08648	0.364000	0.29643	1.087000	0.30865	0.522000	0.28464	0.524000	0.50904	TTA		0.313	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680	
KIAA0922	23240	broad.mit.edu	37	4	154533547	154533547	+	Missense_Mutation	SNP	G	G	A	rs150625995	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:154533547G>A	ENST00000409663.3	+	26	3611	c.3559G>A	c.(3559-3561)Gta>Ata	p.V1187I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.V1188I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.V1104I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1187						integral component of membrane (GO:0016021)		p.V1040I(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)				CATACCTTTCGTAGAGGTCTG	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		18818	0.001		0.001	False		,,,				2504	0.0				p.V1187I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3559A	4						.	G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	55.0	57.0	56.0		3562,3559	-0.8	0.0	4	dbSNP_134	56	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	KIAA0922	NM_001131007.1,NM_015196.3	29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1188/1611,1187/1610	154533547	1,13003	2203	4299	6502	154752997	SO:0001583	missense	23240	exon26			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.3559G>A	4.37:g.154533547G>A	ENSP00000386574:p.Val1187Ile		154752997	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	1	0.0017482517482517483	0	0.0	G	0.112	-1.136766	0.01742	0.0	1.16E-4	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19394	2.43;2.15;2.43;2.15	5.62	-0.759	0.11045	.	0.988438	0.08244	N	0.975733	T	0.07503	0.0189	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.26120	0.142;0.004;0.002	B;B;B	0.21151	0.033;0.001;0.001	T	0.37337	-0.9710	10	0.15952	T	0.53	0.1039	2.5519	0.04750	0.2147:0.3377:0.3315:0.1161	.	1104;1188;1187	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	1187;1104;1188;965	ENSP00000386574:V1187I;ENSP00000409663:V1104I;ENSP00000386787:V1188I;ENSP00000240487:V965I	ENSP00000240487:V965I	V	+	1	0	KIAA0922	154752997	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-0.426000	0.07008	-0.190000	0.10465	-0.252000	0.11476	GTA		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
KIAA0922	23240	broad.mit.edu	37	4	154557596	154557596	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:154557596C>T	ENST00000409663.3	+	35	4750	c.4698C>T	c.(4696-4698)gtC>gtT	p.V1566V	KIAA0922_ENST00000409959.3_Silent_p.V1567V|KIAA0922_ENST00000440693.1_Silent_p.V1483V	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1566						integral component of membrane (GO:0016021)		p.V1419V(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)				ACCAAGCGGTCGTGTGCAAGG	0.507																																					p.V1566V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4698T	4						.						101.0	99.0	100.0					4																	154557596		2203	4300	6503	154777046	SO:0001819	synonymous_variant	23240	exon35			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.4698C>T	4.37:g.154557596C>T			154777046	NM_015196	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Silent	SNP	ENST00000409663.3	37	CCDS3783.2																																																																																				0.507	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
TLR2	7097	broad.mit.edu	37	4	154624559	154624559	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:154624559G>T	ENST00000260010.6	+	1	1908	c.500G>T	c.(499-501)aGa>aTa	p.R167I		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	167					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|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)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.R167I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAGATTCAAAGAAAAGATTTT	0.373																																					p.R167I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G500T	4						.						77.0	80.0	79.0					4																	154624559		2203	4300	6503	154844009	SO:0001583	missense	7097	exon3			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.500G>T	4.37:g.154624559G>T	ENSP00000260010:p.Arg167Ile		154844009	NM_003264	B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756972	0.31137	.	.	ENSG00000137462	ENST00000260010	D	0.90069	-2.61	5.51	1.05	0.20165	.	0.735756	0.12961	N	0.424983	T	0.80899	0.4712	L	0.27053	0.805	0.40553	D	0.981135	B	0.18741	0.03	B	0.12156	0.007	T	0.71115	-0.4686	10	0.72032	D	0.01	.	8.9942	0.36041	0.5616:0.0:0.4384:0.0	.	167	O60603	TLR2_HUMAN	I	167	ENSP00000260010:R167I	ENSP00000260010:R167I	R	+	2	0	TLR2	154844009	0.978000	0.34361	0.502000	0.27614	0.966000	0.64601	2.426000	0.44731	0.007000	0.14760	0.655000	0.94253	AGA		0.373	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1		
DCHS2	54798	broad.mit.edu	37	4	155219346	155219346	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:155219346C>A	ENST00000357232.4	-	18	4754	c.4755G>T	c.(4753-4755)caG>caT	p.Q1585H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1585	Cadherin 14. {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.Q1585H(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)		CAAAAGGGTTCTGTTCCAAAA	0.463																																					p.Q1585H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4755T	4						.						103.0	102.0	102.0					4																	155219346		2203	4300	6503	155438796	SO:0001583	missense	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.4755G>T	4.37:g.155219346C>A	ENSP00000349768:p.Gln1585His		155438796	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723223	0.48728	.	.	ENSG00000197410	ENST00000357232	T	0.62105	0.05	5.66	3.93	0.45458	Cadherin (2);Cadherin-like (1);	0.170574	0.40818	N	0.001002	T	0.73999	0.3659	M	0.79926	2.475	0.80722	D	1	D	0.65815	0.995	P	0.57371	0.819	T	0.73633	-0.3921	10	0.49607	T	0.09	.	11.2418	0.48974	0.0:0.7364:0.0:0.2636	.	1585	Q6V1P9	PCD23_HUMAN	H	1585	ENSP00000349768:Q1585H	ENSP00000349768:Q1585H	Q	-	3	2	DCHS2	155438796	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	1.237000	0.32695	0.434000	0.26340	-0.813000	0.03139	CAG		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
RBM46	166863	broad.mit.edu	37	4	155720248	155720248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:155720248G>T	ENST00000281722.3	+	4	1169	c.934G>T	c.(934-936)Gaa>Taa	p.E312*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.E312*|RBM46_ENST00000510397.1_Nonsense_Mutation_p.E312*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	312							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E312*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGTAAATAAAGAAAACACTTG	0.388																																					p.E312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G934T	4						.						74.0	74.0	74.0					4																	155720248		2203	4300	6503	155939698	SO:0001587	stop_gained	166863	exon4			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.934G>T	4.37:g.155720248G>T	ENSP00000281722:p.Glu312*		155939698	NM_144979	B3KWU8|B4DZ27	Nonsense_Mutation	SNP	ENST00000281722.3	37	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652934	0.97734	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	.	.	.	6.17	6.17	0.99709	.	0.152061	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0662	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000281722:E312X	E	+	1	0	RBM46	155939698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.369000	0.59511	2.941000	0.99782	0.655000	0.94253	GAA		0.388	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979	
GUCY1B3	2983	broad.mit.edu	37	4	156716587	156716587	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:156716587C>T	ENST00000264424.8	+	7	903	c.821C>T	c.(820-822)aCt>aTt	p.T274I	GUCY1B3_ENST00000505764.1_Missense_Mutation_p.T254I|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.T206I|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.T296I|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.T274I|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.T206I|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.T206I	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	274					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.T274I(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)		CACATCAATACTGTTTTTGTA	0.373																																					p.T274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C821T	4						.						133.0	121.0	125.0					4																	156716587		1833	4093	5926	156936037	SO:0001583	missense	2983	exon7			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.821C>T	4.37:g.156716587C>T	ENSP00000264424:p.Thr274Ile		156936037	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539277	0.65085	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.77	5.77	0.91146	Haem NO binding associated (1);	0.045090	0.85682	D	0.000000	D	0.92727	0.7688	M	0.73962	2.25	0.80722	D	1	D;P;P;P;P	0.61697	0.99;0.885;0.599;0.919;0.813	P;P;B;P;P	0.53760	0.677;0.734;0.444;0.548;0.528	D	0.91965	0.5582	10	0.48119	T	0.1	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	254;296;206;274;274	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	I	206;296;254;206;274;274;206	ENSP00000427226:T206I;ENSP00000426786:T296I;ENSP00000426319:T254I;ENSP00000422313:T206I;ENSP00000264424:T274I;ENSP00000420842:T274I;ENSP00000425065:T206I	ENSP00000264424:T274I	T	+	2	0	GUCY1B3	156936037	1.000000	0.71417	0.607000	0.28956	0.226000	0.24999	7.283000	0.78640	2.885000	0.99019	0.655000	0.94253	ACT		0.373	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
GRIA2	2891	broad.mit.edu	37	4	158256990	158256990	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:158256990G>A	ENST00000264426.9	+	10	1713	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	GRIA2_ENST00000449365.1_Silent_p.T431T|GRIA2_ENST00000296526.7_Silent_p.T478T|GRIA2_ENST00000393815.2_Silent_p.T431T|GRIA2_ENST00000507898.1_Silent_p.T431T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	478					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.T478T(2)		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)	ATGCAGACACGAAAATTTGGA	0.423																																					p.T431T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1293A	4						.						185.0	165.0	172.0					4																	158256990		2203	4300	6503	158476440	SO:0001819	synonymous_variant	2891	exon10				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.1434G>A	4.37:g.158256990G>A			158476440	NM_001083620	A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	CCDS43274.1																																																																																				0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIA2	2891	broad.mit.edu	37	4	158284078	158284078	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:158284078G>A	ENST00000264426.9	+	15	2813	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q	GRIA2_ENST00000449365.1_Missense_Mutation_p.R798Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.R845Q|GRIA2_ENST00000393815.2_Missense_Mutation_p.R798Q|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.R798Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	845					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R845Q(4)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAGGCGAAACGAATGAAGGTG	0.448																																					p.R798Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2393A	4						.						151.0	135.0	140.0					4																	158284078		2203	4300	6503	158503528	SO:0001583	missense	2891	exon15				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2534G>A	4.37:g.158284078G>A	ENSP00000264426:p.Arg845Gln		158503528	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567681	0.65651	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.15139	2.45;2.45;2.49;2.5;2.45	6.08	6.08	0.98989	.	0.069737	0.64402	D	0.000015	T	0.33177	0.0854	M	0.80982	2.52	0.80722	D	1	D;D;P	0.61697	0.99;0.97;0.76	P;P;B	0.45660	0.478;0.489;0.091	T	0.16394	-1.0404	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	845;845;798	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	798;798;845;845;798	ENSP00000426845:R798Q;ENSP00000377403:R798Q;ENSP00000296526:R845Q;ENSP00000264426:R845Q;ENSP00000389837:R798Q	ENSP00000264426:R845Q	R	+	2	0	GRIA2	158503528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.894000	0.99253	0.591000	0.81541	CGA		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
TMEM144	55314	broad.mit.edu	37	4	159133887	159133887	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:159133887G>A	ENST00000296529.6	+	3	588	c.68G>A	c.(67-69)gGc>gAc	p.G23D	TMEM144_ENST00000509278.1_Missense_Mutation_p.G23D|TMEM144_ENST00000514558.1_Missense_Mutation_p.G23D	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	23						integral component of membrane (GO:0016021)		p.G23D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTTTTGTTTGGCTCAAATTTT	0.323																																					p.G23D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	4						.						176.0	153.0	161.0					4																	159133887		2203	4300	6503	159353337	SO:0001583	missense	55314	exon3			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.68G>A	4.37:g.159133887G>A	ENSP00000296529:p.Gly23Asp		159353337	NM_018342	D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705903	0.89018	.	.	ENSG00000164124	ENST00000505049;ENST00000505189;ENST00000508243;ENST00000296529;ENST00000512481;ENST00000504569;ENST00000509278;ENST00000514558;ENST00000503200;ENST00000502698;ENST00000514971	T;T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89683	0.3892	10	0.87932	D	0	-9.5555	18.3118	0.90203	0.0:0.0:1.0:0.0	.	23	Q7Z5S9	TM144_HUMAN	D	23	ENSP00000425266:G23D;ENSP00000421289:G23D;ENSP00000422297:G23D;ENSP00000296529:G23D;ENSP00000424659:G23D;ENSP00000422082:G23D;ENSP00000425815:G23D;ENSP00000426211:G23D;ENSP00000420990:G23D;ENSP00000425907:G23D;ENSP00000422899:G23D	ENSP00000296529:G23D	G	+	2	0	TMEM144	159353337	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	7.367000	0.79558	2.619000	0.88677	0.655000	0.94253	GGC		0.323	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342	
PPID	5481	broad.mit.edu	37	4	159640400	159640400	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:159640400T>G	ENST00000307720.3	-	3	372	c.265A>C	c.(265-267)Aat>Cat	p.N89H		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	89	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.N89H(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)		CCATTCTGATTTGAGAAGTCT	0.333																																					p.N89H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A265C	4						.						85.0	86.0	86.0					4																	159640400		2203	4300	6503	159859850	SO:0001583	missense	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.265A>C	4.37:g.159640400T>G	ENSP00000303754:p.Asn89His		159859850	NM_005038	B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710318	0.48517	.	.	ENSG00000171497	ENST00000307720	T	0.22743	1.94	4.83	4.83	0.62350	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.46442	D	0.000297	T	0.15696	0.0378	L	0.27053	0.805	0.80722	D	1	P	0.35628	0.513	B	0.32211	0.142	T	0.05321	-1.0892	10	0.41790	T	0.15	-28.3767	15.1104	0.72351	0.0:0.0:0.0:1.0	.	89	Q08752	PPID_HUMAN	H	89	ENSP00000303754:N89H	ENSP00000303754:N89H	N	-	1	0	PPID	159859850	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.897000	0.69831	2.113000	0.64589	0.459000	0.35465	AAT		0.333	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038	
FNIP2	57600	broad.mit.edu	37	4	159816947	159816947	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:159816947A>C	ENST00000264433.6	+	16	3271	c.3196A>C	c.(3196-3198)Agt>Cgt	p.S1066R	C4orf45_ENST00000434826.2_Intron|FNIP2_ENST00000379346.3_Missense_Mutation_p.S1089R|C4orf45_ENST00000508011.1_Intron	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	1066					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S392R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTACCTTAAAAGTAAAATGCT	0.438																																					p.S1066R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3196C	4						.						144.0	143.0	143.0					4																	159816947		1911	4134	6045	160036397	SO:0001583	missense	57600	exon16			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.3196A>C	4.37:g.159816947A>C	ENSP00000264433:p.Ser1066Arg		160036397	NM_020840	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099199	0.76983	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.51817	0.69;0.69	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77629	-0.2516	9	.	.	.	.	15.5709	0.76337	1.0:0.0:0.0:0.0	.	1066	Q9P278	FNIP2_HUMAN	R	1066;1089	ENSP00000264433:S1066R;ENSP00000368651:S1089R	.	S	+	1	0	FNIP2	160036397	1.000000	0.71417	0.140000	0.22221	0.513000	0.34164	9.281000	0.95811	2.099000	0.63709	0.482000	0.46254	AGT		0.438	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
RAPGEF2	9693	broad.mit.edu	37	4	160264339	160264339	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:160264339G>A	ENST00000264431.4	+	15	3063	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	882	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.E870K(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)		CTTCCTTCACGAAGGTAAACA	0.383																																					p.E882K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2644A	4						.						117.0	106.0	110.0					4																	160264339		1863	4102	5965	160483789	SO:0001583	missense	9693	exon15			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.2644G>A	4.37:g.160264339G>A	ENSP00000264431:p.Glu882Lys		160483789	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824567	0.90955	.	.	ENSG00000109756	ENST00000264431	T	0.38560	1.13	5.82	5.82	0.92795	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.88640	2.97	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.71935	-0.4442	10	0.40728	T	0.16	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	882	Q9Y4G8	RPGF2_HUMAN	K	882	ENSP00000264431:E882K	ENSP00000264431:E882K	E	+	1	0	RAPGEF2	160483789	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	9.836000	0.99456	2.745000	0.94114	0.561000	0.74099	GAA		0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
PALLD	23022	broad.mit.edu	37	4	169846212	169846212	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:169846212C>T	ENST00000505667.1	+	20	3514	c.3341C>T	c.(3340-3342)gCc>gTc	p.A1114V	PALLD_ENST00000512127.1_Missense_Mutation_p.A715V|PALLD_ENST00000335742.7_Missense_Mutation_p.A939V|PALLD_ENST00000507735.1_Missense_Mutation_p.A610V|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.A1097V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1321					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.A939V(1)|p.A1097V(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGTACTGCCAGGCTGGAC	0.443									Pancreatic Cancer, Familial Clustering of																												p.A1097V	Esophageal Squamous(109;1482 1532 18347 40239 51172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3290T	4						.						132.0	125.0	128.0					4																	169846212		2203	4300	6503	170082787	SO:0001583	missense	23022	exon19	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3341C>T	4.37:g.169846212C>T	ENSP00000425556:p.Ala1114Val		170082787	NM_016081	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128543	0.94473	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.6	5.6	0.85130	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31897	U	0.006890	T	0.79347	0.4430	L	0.56280	1.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.75772	-0.3200	10	0.33940	T	0.23	.	19.6074	0.95586	0.0:1.0:0.0:0.0	.	1114;1321;715;1097	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	V	1097;939;1114;715;610	ENSP00000261509:A1097V;ENSP00000336735:A939V;ENSP00000425556:A1114V;ENSP00000426947:A715V;ENSP00000424016:A610V	ENSP00000261509:A1097V	A	+	2	0	PALLD	170082787	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.818000	0.86416	2.627000	0.88993	0.650000	0.86243	GCC		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081	
NEK1	4750	broad.mit.edu	37	4	170511900	170511900	+	Missense_Mutation	SNP	G	G	T	rs56850122		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:170511900G>T	ENST00000439128.2	-	5	1013	c.373C>A	c.(373-375)Ctt>Att	p.L125I	NEK1_ENST00000511633.1_Missense_Mutation_p.L125I|NEK1_ENST00000507142.1_Missense_Mutation_p.L125I|NEK1_ENST00000512193.1_Missense_Mutation_p.L125I|NEK1_ENST00000510533.1_Missense_Mutation_p.L125I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.L125I(2)		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)		TCTCGATGAAGAATTTTTCTA	0.358																																					p.L125I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C373A	4						.						88.0	81.0	83.0					4																	170511900		1823	4076	5899	170748475	SO:0001583	missense	4750	exon5			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.373C>A	4.37:g.170511900G>T	ENSP00000408020:p.Leu125Ile		170748475	NM_001199400	G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467462	0.84533	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.1	5.1	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	0.50627	D	0.000118	T	0.24431	0.0592	N	0.05467	-0.045	0.54753	D	0.999986	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.998;0.999	T	0.10941	-1.0608	10	0.62326	D	0.03	.	10.2101	0.43136	0.1253:0.0:0.8747:0.0	.	125;125;125;125;125;125	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	I	125	ENSP00000408020:L125I;ENSP00000423332:L125I;ENSP00000427653:L125I;ENSP00000424757:L125I;ENSP00000424938:L125I	ENSP00000408020:L125I	L	-	1	0	NEK1	170748475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.728000	0.62000	2.540000	0.85666	0.591000	0.81541	CTT		0.358	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
GALNTL6	442117	broad.mit.edu	37	4	173873287	173873287	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:173873287G>A	ENST00000506823.1	+	10	1906	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.A400T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	417					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.A417T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGACATCTCTGCCCAGAAGGA	0.572																																					p.A417T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1249A	4						.						57.0	60.0	59.0					4																	173873287		2203	4300	6503	174109862	SO:0001583	missense	442117	exon10				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1249G>A	4.37:g.173873287G>A	ENSP00000423313:p.Ala417Thr		174109862	NM_001034845	Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.399795	0.42512	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.68624	-0.34;-0.34	5.36	5.36	0.76844	.	0.076311	0.56097	D	0.000036	T	0.61299	0.2336	L	0.49699	1.58	0.58432	D	0.999995	B	0.12630	0.006	B	0.12156	0.007	T	0.57010	-0.7884	10	0.39692	T	0.17	.	14.3136	0.66432	0.0:0.0:0.8516:0.1484	.	417	Q49A17	GLTL6_HUMAN	T	417;400	ENSP00000423313:A417T;ENSP00000423827:A400T	ENSP00000423313:A417T	A	+	1	0	GALNTL6	174109862	1.000000	0.71417	0.975000	0.42487	0.823000	0.46562	4.596000	0.61055	2.668000	0.90789	0.478000	0.44815	GCC		0.572	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845	
SCRG1	11341	broad.mit.edu	37	4	174312452	174312452	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:174312452A>G	ENST00000296506.3	-	2	596	c.114T>C	c.(112-114)tgT>tgC	p.C38C		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1	38					nervous system development (GO:0007399)	extracellular space (GO:0005615)		p.C38C(1)		large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		GAAGGTTGTGACAGTTGTGAT	0.453																																					p.C38C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T114C	4						.						233.0	208.0	216.0					4																	174312452		2203	4300	6503	174549027	SO:0001819	synonymous_variant	11341	exon2			AJ224677	CCDS3818.1	4q34.1	2009-07-09				ENSG00000164106			17036	protein-coding gene	gene with protein product	"""scrapie responsive gene 1"""	603163				9660755, 9516475	Standard	NM_007281		Approved	SCRG-1	uc003ite.3	O75711		ENST00000296506.3:c.114T>C	4.37:g.174312452A>G			174549027	NM_007281		Silent	SNP	ENST00000296506.3	37	CCDS3818.1																																																																																				0.453	SCRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364304.2	NM_007281	
GLRA3	8001	broad.mit.edu	37	4	175564972	175564972	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:175564972G>T	ENST00000274093.3	-	10	1862	c.1360C>A	c.(1360-1362)Ctt>Att	p.L454I	GLRA3_ENST00000340217.5_Missense_Mutation_p.L439I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	454					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.L454I(2)		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)	TCATGCCTAAGAATTTTATAG	0.403																																					p.L439I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1315A	4						.						87.0	96.0	93.0					4																	175564972		2203	4300	6503	175801547	SO:0001583	missense	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.1360C>A	4.37:g.175564972G>T	ENSP00000274093:p.Leu454Ile		175801547	NM_001042543	D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167603	0.38315	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.84370	-1.84;-1.84	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.057478	0.64402	D	0.000001	T	0.71409	0.3336	N	0.20574	0.59	0.54753	D	0.999987	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.63932	-0.6525	10	0.02654	T	1	.	11.9178	0.52776	0.0:0.1225:0.7357:0.1418	.	439;454	O75311-2;O75311	.;GLRA3_HUMAN	I	454;439	ENSP00000274093:L454I;ENSP00000345284:L439I	ENSP00000274093:L454I	L	-	1	0	GLRA3	175801547	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.777000	0.55364	2.779000	0.95612	0.591000	0.81541	CTT		0.403	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
GPM6A	2823	broad.mit.edu	37	4	176572986	176572986	+	Splice_Site	SNP	A	A	T			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:176572986A>T	ENST00000280187.7	-	5	585	c.540T>A	c.(538-540)ttT>ttA	p.F180L	GPM6A_ENST00000506894.1_Splice_Site_p.F169L|GPM6A_ENST00000393658.2_Splice_Site_p.F180L|GPM6A_ENST00000515090.1_Splice_Site_p.F173L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	180					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.F180L(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCACTTACCAAACTGACGAA	0.413																																					p.F180L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T540A	4						.						133.0	128.0	130.0					4																	176572986		2203	4300	6503	176809980	SO:0001630	splice_region_variant	2823	exon4				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.541+1T>A	4.37:g.176572986A>T			176809980	NM_201591	B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471607	0.63737	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754	D;D;D;D;D;D;D	0.99282	-5.68;-5.68;-5.68;-5.68;-5.68;-5.68;-5.68	5.62	0.497	0.16902	.	0.145170	0.64402	D	0.000004	D	0.97396	0.9148	L	0.48642	1.525	0.52099	D	0.999949	B;B;B	0.27286	0.174;0.055;0.055	B;B;B	0.29942	0.109;0.109;0.06	D	0.93530	0.6869	10	0.54805	T	0.06	-24.4279	9.593	0.39557	0.742:0.0:0.258:0.0	.	173;169;180	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	L	180;180;169;173;172;117;117	ENSP00000280187:F180L;ENSP00000377268:F180L;ENSP00000421578:F169L;ENSP00000423984:F173L;ENSP00000422959:F172L;ENSP00000426984:F117L;ENSP00000426821:F117L	ENSP00000280187:F180L	F	-	3	2	GPM6A	176809980	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.174000	0.42482	-0.047000	0.13423	0.528000	0.53228	TTT		0.413	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1		Missense_Mutation
VEGFC	7424	broad.mit.edu	37	4	177609008	177609008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:177609008C>A	ENST00000280193.2	-	5	1193	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	260					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E260*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ATAAAATCTTCCTGAGCCAGG	0.433																																					p.E260X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G778T	4						.						115.0	109.0	110.0					4																	177609008		1910	4130	6040	177846002	SO:0001587	stop_gained	7424	exon5			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.778G>T	4.37:g.177609008C>A	ENSP00000280193:p.Glu260*		177846002	NM_005429	B2R9Q8	Nonsense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	38	6.876038	0.97904	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	4.73	0.59995	.	0.599099	0.18508	N	0.139147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-5.7306	16.8792	0.86059	0.0:0.1301:0.8699:0.0	.	.	.	.	X	260	.	ENSP00000280193:E260X	E	-	1	0	VEGFC	177846002	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	4.280000	0.58959	1.487000	0.48415	-0.153000	0.13522	GAA		0.433	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
TENM3	55714	broad.mit.edu	37	4	183602991	183602991	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183602991C>A	ENST00000511685.1	+	11	1982	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y	TENM3_ENST00000406950.2_Missense_Mutation_p.S620Y|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	620	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S620Y(1)									CCTGGGTGTTCTAATCATGGT	0.418																																					p.S620Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1859A	4						.						70.0	65.0	66.0					4																	183602991		1921	4119	6040	183839985	SO:0001583	missense	55714	exon10			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1859C>A	4.37:g.183602991C>A	ENSP00000424226:p.Ser620Tyr		183839985	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308308	0.81247	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.08102	3.13;3.13	5.5	5.5	0.81552	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.23611	0.0571	M	0.89968	3.075	0.80722	D	1	B	0.25235	0.121	B	0.31290	0.127	T	0.07083	-1.0791	9	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	620	Q9P273	TEN3_HUMAN	Y	620	ENSP00000424226:S620Y;ENSP00000385276:S620Y	ENSP00000385276:S620Y	S	+	2	0	ODZ3	183839985	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	TCT		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183675616	183675616	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183675616T>C	ENST00000511685.1	+	22	4219	c.4096T>C	c.(4096-4098)Tta>Cta	p.L1366L	TENM3_ENST00000406950.2_Silent_p.L1366L|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1366					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L1366L(1)									TAATGTAGTTTTACAGATCAC	0.468																																					p.L1366L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4096C	4						.						53.0	50.0	51.0					4																	183675616		1952	4150	6102	183912610	SO:0001819	synonymous_variant	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4096T>C	4.37:g.183675616T>C			183912610	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.468	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183713642	183713642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183713642C>A	ENST00000511685.1	+	26	5940	c.5817C>A	c.(5815-5817)ttC>ttA	p.F1939L	TENM3_ENST00000406950.2_Missense_Mutation_p.F1939L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1939					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F1939L(1)									AAACAGCTTTCTTGGGTACAA	0.448																																					p.F1939L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5817A	4						.						59.0	59.0	59.0					4																	183713642		1902	4111	6013	183950636	SO:0001583	missense	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5817C>A	4.37:g.183713642C>A	ENSP00000424226:p.Phe1939Leu		183950636	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049480	0.36181	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	4.74	4.74	0.60224	.	.	.	.	.	T	0.78654	0.4317	N	0.25647	0.755	0.44789	D	0.997794	B	0.13594	0.008	B	0.12156	0.007	T	0.72093	-0.4394	9	0.27082	T	0.32	.	11.7197	0.51675	0.0:0.9189:0.0:0.081	.	1939	Q9P273	TEN3_HUMAN	L	1939	ENSP00000424226:F1939L;ENSP00000385276:F1939L	ENSP00000385276:F1939L	F	+	3	2	ODZ3	183950636	1.000000	0.71417	0.921000	0.36526	0.769000	0.43574	4.587000	0.60991	2.608000	0.88229	0.591000	0.81541	TTC		0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183713936	183713936	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183713936G>A	ENST00000511685.1	+	26	6234	c.6111G>A	c.(6109-6111)acG>acA	p.T2037T	TENM3_ENST00000406950.2_Silent_p.T2037T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2037					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T2037T(2)									TCAATGAAACGCCACTGCCTA	0.383																																					p.T2037T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G6111A	4						.						115.0	115.0	115.0					4																	183713936		1975	4169	6144	183950930	SO:0001819	synonymous_variant	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6111G>A	4.37:g.183713936G>A			183950930	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.383	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183714059	183714059	+	Silent	SNP	G	G	A	rs61746883		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183714059G>A	ENST00000511685.1	+	26	6357	c.6234G>A	c.(6232-6234)acG>acA	p.T2078T	TENM3_ENST00000406950.2_Silent_p.T2078T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2078					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T2078T(1)									TGACCTATACGAAGCACTTTG	0.378																																					p.T2078T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6234A	4						.	G		1,3721		0,1,1860	45.0	44.0	44.0		6234	-9.6	0.6	4	dbSNP_129	44	1,8197		0,1,4098	no	coding-synonymous	ODZ3	NM_001080477.1		0,2,5958	AA,AG,GG		0.0122,0.0269,0.0168		2078/2700	183714059	2,11918	1861	4099	5960	183951053	SO:0001819	synonymous_variant	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6234G>A	4.37:g.183714059G>A			183951053	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.378	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183714712	183714712	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:183714712C>T	ENST00000511685.1	+	26	7010	c.6887C>T	c.(6886-6888)tCg>tTg	p.S2296L	TENM3_ENST00000406950.2_Missense_Mutation_p.S2296L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2296					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S2296L(1)									TATATTGCATCGGATAACACA	0.413																																					p.S2296L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6887T	4						.						74.0	72.0	72.0					4																	183714712		1917	4141	6058	183951706	SO:0001583	missense	55714	exon25			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6887C>T	4.37:g.183714712C>T	ENSP00000424226:p.Ser2296Leu		183951706	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635210	0.47049	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86164	-2.08;-2.08	5.02	5.02	0.67125	.	.	.	.	.	D	0.84070	0.5391	L	0.43152	1.355	0.49483	D	0.999796	B	0.23185	0.081	B	0.12837	0.008	T	0.81417	-0.0942	9	0.66056	D	0.02	.	18.553	0.91072	0.0:1.0:0.0:0.0	.	2296	Q9P273	TEN3_HUMAN	L	2296	ENSP00000424226:S2296L;ENSP00000385276:S2296L	ENSP00000385276:S2296L	S	+	2	0	ODZ3	183951706	1.000000	0.71417	0.070000	0.20053	0.463000	0.32649	5.964000	0.70379	2.603000	0.88011	0.655000	0.94253	TCG		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
ZNF721	170960	broad.mit.edu	37	4	436610	436610	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:436610C>A	ENST00000338977.5	-	2	1658	c.1610G>T	c.(1609-1611)aGa>aTa	p.R537I	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.R549I|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	537					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.R319I(1)|p.R549I(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTAC	0.403																																					p.R549I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1646T	4						.						89.0	97.0	94.0					4																	436610		2111	4259	6370	426610	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.1610G>T	4.37:g.436610C>A	ENSP00000340524:p.Arg537Ile		426610	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	C	15.60	2.882652	0.51908	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.02446	4.29;4.29	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	L	0.53780	1.695	0.33086	D	0.537277	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.76071	0.987;0.987;0.978	T	0.17961	-1.0352	9	0.45353	T	0.12	.	8.0662	0.30661	0.0:1.0:0.0:0.0	.	537;549;549	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	I	537;549	ENSP00000340524:R537I;ENSP00000428878:R549I	ENSP00000340524:R537I	R	-	2	0	ZNF721	426610	0.000000	0.05858	0.041000	0.18516	0.796000	0.44982	-0.682000	0.05185	0.672000	0.31204	0.184000	0.17185	AGA		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
NOP14	8602	broad.mit.edu	37	4	2959399	2959399	+	Silent	SNP	G	G	A	rs375247657		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:2959399G>A	ENST00000314262.6	-	2	312	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NOP14_ENST00000502735.1_Silent_p.F88F|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.F88F|NOP14_ENST00000416614.2_Silent_p.F88F	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	88					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.F88F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TGTATTCTCCGAAGCGTTTAT	0.418																																					p.F88F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C264T	4						.	G		0,4406		0,0,2203	206.0	190.0	196.0		264	-3.3	0.9	4		196	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NOP14	NM_003703.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		88/858	2959399	2,13004	2203	4300	6503	2929197	SO:0001819	synonymous_variant	8602	exon2			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.264C>T	4.37:g.2959399G>A			2929197	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	ENST00000314262.6	37	CCDS33945.1																																																																																				0.418	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
LYAR	55646	broad.mit.edu	37	4	4270335	4270335	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:4270335G>T	ENST00000343470.4	-	9	1167	c.927C>A	c.(925-927)ttC>ttA	p.F309L	LYAR_ENST00000452476.1_Missense_Mutation_p.F309L	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	309	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F309L(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTTCCAGTTGAATTTACCTA	0.343																																					p.F309L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C927A	4						.						117.0	112.0	114.0					4																	4270335		2203	4298	6501	4321236	SO:0001583	missense	55646	exon9			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.927C>A	4.37:g.4270335G>T	ENSP00000345917:p.Phe309Leu		4321236	NM_001145725	D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202734	0.79127	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.37752	1.18;1.18	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.85041	2.73	0.53688	D	0.999979	D	0.76494	0.999	D	0.80764	0.994	T	0.62613	-0.6817	10	0.44086	T	0.13	-20.9978	9.7641	0.40550	0.1644:0.0:0.8356:0.0	.	309	Q9NX58	LYAR_HUMAN	L	309	ENSP00000345917:F309L;ENSP00000397367:F309L	ENSP00000345917:F309L	F	-	3	2	LYAR	4321236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.761000	0.55242	1.293000	0.44690	0.561000	0.74099	TTC		0.343	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816	
CRMP1	1400	broad.mit.edu	37	4	5830234	5830234	+	Silent	SNP	G	G	A	rs143852988		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:5830234G>A	ENST00000397890.2	-	12	1657	c.1443C>T	c.(1441-1443)cgC>cgT	p.R481R	CRMP1_ENST00000512574.1_Silent_p.R479R|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Silent_p.R595R|EVC_ENST00000382674.2_Intron	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	481					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.R595R(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TGATTTTGACGCGCTGGTACA	0.592																																					p.R481R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1443T	4						.						94.0	79.0	84.0					4																	5830234		2203	4300	6503	5881135	SO:0001819	synonymous_variant	1400	exon12			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1443C>T	4.37:g.5830234G>A			5881135	NM_001313	A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	CCDS43207.1																																																																																				0.592	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313	
ACOX3	8310	broad.mit.edu	37	4	8398776	8398776	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:8398776G>A	ENST00000356406.5	-	9	1021	c.944C>T	c.(943-945)gCc>gTc	p.A315V	ACOX3_ENST00000413009.2_Missense_Mutation_p.A315V|ACOX3_ENST00000503233.1_Missense_Mutation_p.A315V	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	315					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.A315V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GTTAAGGATGGCCAGGCTCAC	0.602																																					p.A315V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C944T	4						.						69.0	65.0	66.0					4																	8398776		2203	4300	6503	8449676	SO:0001583	missense	8310	exon9			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.944C>T	4.37:g.8398776G>A	ENSP00000348775:p.Ala315Val		8449676	NM_003501	Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426987	0.43122	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.72505	-0.66;-0.66;-0.66	5.0	3.2	0.36748	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.423339	0.25909	N	0.027501	T	0.78953	0.4365	M	0.75615	2.305	0.26895	N	0.967243	P;P;P	0.51791	0.849;0.948;0.924	P;P;P	0.55260	0.461;0.662;0.772	T	0.72763	-0.4195	10	0.49607	T	0.09	-20.0563	13.9779	0.64284	0.0:0.2905:0.7095:0.0	.	315;315;315	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	V	315	ENSP00000413994:A315V;ENSP00000348775:A315V;ENSP00000421625:A315V	ENSP00000348775:A315V	A	-	2	0	ACOX3	8449676	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	2.783000	0.47766	0.456000	0.26937	0.609000	0.83330	GCC		0.602	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
ACOX3	8310	broad.mit.edu	37	4	8401376	8401376	+	Silent	SNP	G	G	A	rs372351617		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:8401376G>A	ENST00000356406.5	-	8	857	c.780C>T	c.(778-780)ttC>ttT	p.F260F	ACOX3_ENST00000413009.2_Silent_p.F260F|ACOX3_ENST00000503233.1_Silent_p.F260F	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	260					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.F260F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGAACATGGCGAAACTGTGGG	0.577																																					p.F260F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780T	4						.	G	,	0,4406		0,0,2203	68.0	66.0	67.0		780,780	-1.6	0.4	4		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ACOX3	NM_001101667.1,NM_003501.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	260/625,260/701	8401376	1,13005	2203	4300	6503	8452276	SO:0001819	synonymous_variant	8310	exon8			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.780C>T	4.37:g.8401376G>A			8452276	NM_003501	Q96AJ8	Silent	SNP	ENST00000356406.5	37	CCDS3401.1																																																																																				0.577	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4		
SLC2A9	56606	broad.mit.edu	37	4	9836601	9836601	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:9836601G>T	ENST00000264784.3	-	11	1376	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	SLC2A9_ENST00000309065.3_Missense_Mutation_p.F412L|SLC2A9_ENST00000506583.1_Missense_Mutation_p.F412L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	441					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.F412L(1)|p.F441L(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)	ATTGCTGGAAGAACTCACCAG	0.527																																					p.F412L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1236A	4						.						86.0	77.0	80.0					4																	9836601		2203	4300	6503	9445699	SO:0001583	missense	56606	exon12			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.1323C>A	4.37:g.9836601G>T	ENSP00000264784:p.Phe441Leu		9445699	NM_001001290	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.136239	0.01742	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.71103	-0.54;-0.54;-0.54	5.39	0.87	0.19102	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.239855	0.43260	N	0.000581	T	0.30039	0.0752	N	0.01742	-0.745	0.33970	D	0.64676	B;B	0.02656	0.0;0.0	B;B	0.11329	0.003;0.006	T	0.30504	-0.9976	10	0.02654	T	1	.	0.8892	0.01250	0.1545:0.1905:0.2693:0.3857	.	412;441	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	L	412;441;412	ENSP00000422209:F412L;ENSP00000264784:F441L;ENSP00000311383:F412L	ENSP00000264784:F441L	F	-	3	2	SLC2A9	9445699	0.907000	0.30839	0.998000	0.56505	0.064000	0.16182	-0.038000	0.12144	0.213000	0.20722	0.585000	0.79938	TTC		0.527	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1		
SLIT2	9353	broad.mit.edu	37	4	20543194	20543194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:20543194G>T	ENST00000504154.1	+	20	2347	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	SLIT2_ENST00000273739.5_Nonsense_Mutation_p.E703*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.E695*|SLIT2_ENST00000503823.1_Nonsense_Mutation_p.E691*	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	699	LRRCT 3.				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.E699*(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						CTTCCTGAAAGAAATACCCAT	0.423																																					p.E699X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2095T	4						.						108.0	100.0	103.0					4																	20543194		2203	4300	6503	20152292	SO:0001587	stop_gained	9353	exon20			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.2095G>T	4.37:g.20543194G>T	ENSP00000422591:p.Glu699*		20152292	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Nonsense_Mutation	SNP	ENST00000504154.1	37	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	44	10.982806	0.99499	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	.	.	.	X	691;699;703;695;695	.	ENSP00000273739:E703X	E	+	1	0	SLIT2	20152292	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.471000	0.97696	2.794000	0.96219	0.655000	0.94253	GAA		0.423	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SLIT2	9353	broad.mit.edu	37	4	20620554	20620554	+	Silent	SNP	C	C	T	rs370110126		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:20620554C>T	ENST00000504154.1	+	37	4764	c.4512C>T	c.(4510-4512)ttC>ttT	p.F1504F	SLIT2_ENST00000273739.5_Silent_p.F1517F|SLIT2_ENST00000503837.1_Silent_p.F1500F|SLIT2_ENST00000503823.1_Silent_p.F1496F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1504	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				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.F1504F(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						AATACTCTTTCGAATGCACTG	0.567																																					p.F1504F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4512T	4						.	C		1,4405	2.1+/-5.4	0,1,2202	121.0	103.0	109.0		4512	-0.6	0.7	4		109	0,8600		0,0,4300	no	coding-synonymous	SLIT2	NM_004787.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1504/1530	20620554	1,13005	2203	4300	6503	20229652	SO:0001819	synonymous_variant	9353	exon37			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.4512C>T	4.37:g.20620554C>T			20229652	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	CCDS3426.1																																																																																				0.567	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
PI4K2B	55300	broad.mit.edu	37	4	25253965	25253965	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:25253965G>T	ENST00000264864.6	+	2	480	c.291G>T	c.(289-291)atG>atT	p.M97I	PI4K2B_ENST00000512921.1_Start_Codon_SNP_p.M1I	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	97					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.M97I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CTTCAGAGATGAATGCATTCT	0.393																																					p.M97I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G291T	4						.						117.0	115.0	116.0					4																	25253965		2203	4300	6503	24863063	SO:0001583	missense	55300	exon2			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.291G>T	4.37:g.25253965G>T	ENSP00000264864:p.Met97Ile		24863063	NM_018323	Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496240	0.26861	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	T	0.40756	1.02	5.09	4.24	0.50183	.	0.509214	0.24328	N	0.039487	T	0.30262	0.0759	L	0.41236	1.265	0.25215	N	0.989948	B	0.02656	0.0	B	0.06405	0.002	T	0.16630	-1.0396	10	0.22109	T	0.4	-0.0066	7.8425	0.29406	0.0833:0.0:0.7565:0.1603	.	97	Q8TCG2	P4K2B_HUMAN	I	1;97;66	ENSP00000264864:M97I	ENSP00000264864:M97I	M	+	3	0	PI4K2B	24863063	1.000000	0.71417	0.293000	0.24932	0.660000	0.38997	3.602000	0.54066	1.112000	0.41740	0.467000	0.42956	ATG		0.393	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
RBPJ	3516	broad.mit.edu	37	4	26407808	26407808	+	Missense_Mutation	SNP	G	G	A	rs141690523		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:26407808G>A	ENST00000361572.6	+	3	304	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	RBPJ_ENST00000345843.3_Missense_Mutation_p.R22Q|RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000348160.4_Missense_Mutation_p.R24Q|RBPJ_ENST00000504907.1_Missense_Mutation_p.R23Q|RBPJ_ENST00000355476.3_Missense_Mutation_p.R23Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.R2Q|RBPJ_ENST00000342295.1_Missense_Mutation_p.R37Q|RBPJ_ENST00000342320.4_Missense_Mutation_p.R23Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	37					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R23Q(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GAAGCTATGCGAAATTATTTA	0.323																																					p.R23Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68A	4						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	98.0	95.0		110,71,65,68	5.4	1.0	4	dbSNP_134	95	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense,missense,missense	RBPJ	NM_005349.2,NM_015874.3,NM_203283.1,NM_203284.1	43,43,43,43	0,3,6497	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign	37/501,24/488,22/486,23/487	26407808	3,12997	2203	4297	6500	26016906	SO:0001583	missense	3516	exon4			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.110G>A	4.37:g.26407808G>A	ENSP00000354528:p.Arg37Gln		26016906	NM_203284	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983686	0.74474	2.27E-4	2.33E-4	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000514807;ENST00000348160;ENST00000509158;ENST00000355476;ENST00000505958;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.4	5.4	0.78164	LAG1, DNA binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	L	0.52573	1.65	0.80722	D	1	P;P;B;P;B;B	0.48089	0.905;0.905;0.349;0.48;0.332;0.349	B;B;B;B;B;B	0.21708	0.036;0.036;0.005;0.012;0.012;0.008	T	0.79550	-0.1757	10	0.48119	T	0.1	-8.6297	18.7556	0.91832	0.0:0.0:1.0:0.0	.	37;23;24;23;22;37	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	Q	23;60;23;37;22;37;37;23;24;23;23;23;2;23;2;23;2;23;23;23;2	ENSP00000424789:R23Q;ENSP00000427170:R60Q;ENSP00000425750:R23Q;ENSP00000423644:R37Q;ENSP00000305815:R22Q;ENSP00000345206:R37Q;ENSP00000354528:R37Q;ENSP00000424989:R23Q;ENSP00000339699:R24Q;ENSP00000424804:R23Q;ENSP00000347659:R23Q;ENSP00000423907:R2Q;ENSP00000425061:R23Q;ENSP00000422617:R2Q;ENSP00000423575:R23Q;ENSP00000423406:R2Q;ENSP00000422838:R23Q;ENSP00000423703:R23Q;ENSP00000340124:R23Q;ENSP00000424459:R2Q	ENSP00000345206:R37Q	R	+	2	0	RBPJ	26016906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.858000	0.92256	2.517000	0.84864	0.591000	0.81541	CGA		0.323	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
RBPJ	3516	broad.mit.edu	37	4	26431557	26431557	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:26431557T>C	ENST00000361572.6	+	9	1159	c.965T>C	c.(964-966)aTa>aCa	p.I322T	RBPJ_ENST00000345843.3_Missense_Mutation_p.I307T|RBPJ_ENST00000348160.4_Missense_Mutation_p.I309T|RBPJ_ENST00000504907.1_Missense_Mutation_p.I308T|RBPJ_ENST00000355476.3_Missense_Mutation_p.I308T|RBPJ_ENST00000507561.1_Missense_Mutation_p.I287T|RBPJ_ENST00000342295.1_Missense_Mutation_p.I322T|RBPJ_ENST00000342320.4_Missense_Mutation_p.I308T			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	322					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I308T(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAAGAGATGATAAATGATGGC	0.383																																					p.I308T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T923C	4						.						61.0	58.0	59.0					4																	26431557		2203	4300	6503	26040655	SO:0001583	missense	3516	exon10			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.965T>C	4.37:g.26431557T>C	ENSP00000354528:p.Ile322Thr		26040655	NM_203284	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172625	0.78452	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000504907;ENST00000342320	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.61	5.61	0.85477	Beta-trefoil (2);	0.046487	0.85682	D	0.000000	T	0.57548	0.2061	M	0.70595	2.14	0.80722	D	1	P;D;D;D;D;D	0.63046	0.647;0.992;0.975;0.968;0.968;0.986	P;P;P;P;P;P	0.62089	0.605;0.898;0.856;0.775;0.775;0.856	T	0.61787	-0.6991	10	0.72032	D	0.01	-18.9194	15.8004	0.78450	0.0:0.0:0.0:1.0	.	322;308;309;308;307;322	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	T	307;322;322;309;308;287;308;308	ENSP00000305815:I307T;ENSP00000345206:I322T;ENSP00000354528:I322T;ENSP00000339699:I309T;ENSP00000347659:I308T;ENSP00000423907:I287T;ENSP00000423703:I308T;ENSP00000340124:I308T	ENSP00000345206:I322T	I	+	2	0	RBPJ	26040655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.597000	0.82733	2.143000	0.66587	0.528000	0.53228	ATA		0.383	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
ARAP2	116984	broad.mit.edu	37	4	36126551	36126551	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:36126551C>A	ENST00000303965.4	-	22	4168	c.3679G>T	c.(3679-3681)Gca>Tca	p.A1227S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1227	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.A1227S(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						CGTATAAATGCTCCATATTTT	0.363																																					p.A1227S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3679T	4						.						167.0	168.0	168.0					4																	36126551		2203	4300	6503	35802946	SO:0001583	missense	116984	exon22			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.3679G>T	4.37:g.36126551C>A	ENSP00000302895:p.Ala1227Ser		35802946	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	9.486	1.099510	0.20552	.	.	ENSG00000047365	ENST00000303965	T	0.18174	2.23	5.24	3.08	0.35506	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.260577	0.38381	N	0.001707	T	0.09598	0.0236	N	0.19112	0.55	0.28791	N	0.89929	B	0.20459	0.045	B	0.18871	0.023	T	0.24083	-1.0170	10	0.18276	T	0.48	.	8.9932	0.36037	0.0:0.6707:0.0:0.3293	.	1227	Q8WZ64	ARAP2_HUMAN	S	1227	ENSP00000302895:A1227S	ENSP00000302895:A1227S	A	-	1	0	ARAP2	35802946	0.072000	0.21174	0.942000	0.38095	0.986000	0.74619	0.324000	0.19610	1.149000	0.42402	0.585000	0.79938	GCA		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36179496	36179496	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:36179496A>C	ENST00000303965.4	-	9	2299	c.1810T>G	c.(1810-1812)Ttt>Gtt	p.F604V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	604	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.F604V(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						AACACAGTAAAAATTTTTGCC	0.373																																					p.F604V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1810G	4						.						146.0	144.0	145.0					4																	36179496		2203	4300	6503	35855891	SO:0001583	missense	116984	exon9			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.1810T>G	4.37:g.36179496A>C	ENSP00000302895:p.Phe604Val		35855891	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617679	0.87359	.	.	ENSG00000047365	ENST00000303965	T	0.31769	1.48	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.239442	0.35151	N	0.003419	T	0.48021	0.1477	L	0.46157	1.445	0.36170	D	0.848715	D;D	0.61697	0.988;0.99	D;P	0.67231	0.95;0.828	T	0.59354	-0.7470	10	0.87932	D	0	.	14.9671	0.71201	1.0:0.0:0.0:0.0	.	534;604	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	V	604	ENSP00000302895:F604V	ENSP00000302895:F604V	F	-	1	0	ARAP2	35855891	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.293000	0.72731	2.023000	0.59567	0.397000	0.26171	TTT		0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36189182	36189182	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:36189182C>T	ENST00000303965.4	-	8	2058	c.1569G>A	c.(1567-1569)tcG>tcA	p.S523S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	523	PH 1. {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.S523S(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						TTATTCCTTTCGAATACATCT	0.318																																					p.S523S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1569A	4						.						76.0	77.0	77.0					4																	36189182		2203	4293	6496	35865577	SO:0001819	synonymous_variant	116984	exon8			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.1569G>A	4.37:g.36189182C>T			35865577	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	CCDS3441.1																																																																																				0.318	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
ARAP2	116984	broad.mit.edu	37	4	36214095	36214095	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:36214095C>A	ENST00000303965.4	-	5	1545	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	352					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.K352N(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						AAAATTCATTCTTTATAGATC	0.343																																					p.K352N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1056T	4						.						106.0	101.0	102.0					4																	36214095		2203	4299	6502	35890490	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.1056G>T	4.37:g.36214095C>A	ENSP00000302895:p.Lys352Asn		35890490	NM_015230	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069728	0.36470	.	.	ENSG00000047365	ENST00000303965	T	0.10005	2.92	5.64	3.0	0.34707	.	0.533626	0.19756	N	0.106764	T	0.12944	0.0314	L	0.56769	1.78	0.34321	D	0.686619	P;P	0.41313	0.745;0.664	B;B	0.41236	0.351;0.102	T	0.14531	-1.0469	10	0.72032	D	0.01	.	8.1359	0.31054	0.0:0.7469:0.0:0.2531	.	282;352	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	N	352	ENSP00000302895:K352N	ENSP00000302895:K352N	K	-	3	2	ARAP2	35890490	0.446000	0.25665	0.989000	0.46669	0.663000	0.39108	0.081000	0.14823	0.412000	0.25729	0.655000	0.94253	AAG		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
TLR10	81793	broad.mit.edu	37	4	38775286	38775286	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:38775286T>C	ENST00000308973.4	-	4	2531	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E	TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000508334.1_Silent_p.E642E|TLR10_ENST00000506111.1_Silent_p.E642E|TLR10_ENST00000361424.2_Silent_p.E642E	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	642	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.E642E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAGAATCATGTTCACTGTATG	0.413																																					p.E642E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1926G	4						.						117.0	112.0	113.0					4																	38775286		2203	4300	6503	38451681	SO:0001819	synonymous_variant	81793	exon4			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1926A>G	4.37:g.38775286T>C			38451681	NM_030956	A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	CCDS3445.1																																																																																				0.413	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		
UGDH	7358	broad.mit.edu	37	4	39523018	39523018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:39523018C>A	ENST00000316423.6	-	2	457	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	UGDH_ENST00000506179.1_Nonsense_Mutation_p.E39*|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Nonsense_Mutation_p.E39*|UGDH_ENST00000515398.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	39					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|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)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.E39*(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						ATTCTTGATTCATTGACATCA	0.378																																					p.E39X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G115T	4						.						159.0	141.0	147.0					4																	39523018		2203	4300	6503	39199413	SO:0001587	stop_gained	7358	exon2			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.115G>T	4.37:g.39523018C>A	ENSP00000319501:p.Glu39*		39199413	NM_001184700	B3KUU2|B4DN25|O60589	Nonsense_Mutation	SNP	ENST00000316423.6	37	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	C	35	5.583511	0.96578	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	.	.	.	6.07	6.07	0.98685	.	0.044677	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-6.7851	19.6475	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	X	39;39;39;52;39;39;39;39	.	ENSP00000319501:E39X	E	-	1	0	UGDH	39199413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.704000	0.68347	2.885000	0.99019	0.655000	0.94253	GAA		0.378	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359	
SLC30A9	10463	broad.mit.edu	37	4	42088103	42088103	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:42088103G>A	ENST00000264451.7	+	18	1847	c.1667G>A	c.(1666-1668)cGa>cAa	p.R556Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	556					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCAGAAACGAAATCCTGAA	0.373																																					p.R556Q												.	.	0			c.G1667A	4						.						155.0	132.0	140.0					4																	42088103		2203	4300	6503	41782860	SO:0001583	missense	10463	exon18			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1667G>A	4.37:g.42088103G>A	ENSP00000264451:p.Arg556Gln		41782860	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624325	0.46840	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.23552	1.9	5.17	3.33	0.38152	.	0.281156	0.35870	N	0.002932	T	0.14184	0.0343	N	0.14661	0.345	0.80722	D	1	B	0.24043	0.096	B	0.21546	0.035	T	0.08269	-1.0730	10	0.20046	T	0.44	-1.769	11.8684	0.52507	0.0:0.1325:0.7296:0.1379	.	556	Q6PML9	ZNT9_HUMAN	Q	556;384	ENSP00000264451:R556Q	ENSP00000264451:R556Q	R	+	2	0	SLC30A9	41782860	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.427000	0.66483	1.135000	0.42183	0.650000	0.86243	CGA		0.373	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
SHISA3	152573	broad.mit.edu	37	4	42403167	42403167	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:42403167G>A	ENST00000319234.4	+	2	634	c.416G>A	c.(415-417)cGc>cAc	p.R139H		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	139					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R139H(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTCTCACTCCGCAGCTATCAG	0.592																																					p.R139H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	4						.						178.0	191.0	186.0					4																	42403167		2203	4300	6503	42097924	SO:0001583	missense	152573	exon2			BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.416G>A	4.37:g.42403167G>A	ENSP00000326445:p.Arg139His		42097924	NM_001080505	A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679757	0.88542	.	.	ENSG00000178343	ENST00000319234	T	0.43688	0.94	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56438	-0.7979	10	0.41790	T	0.15	-27.3746	18.4196	0.90586	0.0:0.0:1.0:0.0	.	139	A0PJX4	SHSA3_HUMAN	H	139	ENSP00000326445:R139H	ENSP00000326445:R139H	R	+	2	0	SHISA3	42097924	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.984000	0.76186	2.692000	0.91855	0.655000	0.94253	CGC		0.592	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505	
ATP10D	57205	broad.mit.edu	37	4	47514781	47514781	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:47514781G>A	ENST00000273859.3	+	2	493	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	ATP10D_ENST00000504445.1_Missense_Mutation_p.R75Q	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	75					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|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.R75Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTGAACAATCGAATACGAACA	0.398																																					p.R75Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G224A	4						.						84.0	86.0	85.0					4																	47514781		2203	4300	6503	47209538	SO:0001583	missense	57205	exon2			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.224G>A	4.37:g.47514781G>A	ENSP00000273859:p.Arg75Gln		47209538	NM_020453	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133702	0.37630	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.78816	-1.21;-1.21	5.31	4.47	0.54385	.	0.440980	0.21433	N	0.074608	T	0.71195	0.3311	L	0.53617	1.68	0.26358	N	0.977091	B;B	0.25850	0.136;0.07	B;B	0.22152	0.038;0.014	T	0.64542	-0.6383	10	0.51188	T	0.08	-6.5077	9.6885	0.40114	0.177:0.0:0.823:0.0	.	75;75	Q9P241;Q6PEW3	AT10D_HUMAN;.	Q	75	ENSP00000273859:R75Q;ENSP00000420909:R75Q	ENSP00000273859:R75Q	R	+	2	0	ATP10D	47209538	0.665000	0.27466	1.000000	0.80357	0.333000	0.28666	1.727000	0.38095	1.364000	0.46038	0.557000	0.71058	CGA		0.398	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	
CNGA1	1259	broad.mit.edu	37	4	47938520	47938520	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:47938520T>G	ENST00000514170.1	-	11	2310	c.1991A>C	c.(1990-1992)aAa>aCa	p.K664T	CNGA1_ENST00000420489.2_Missense_Mutation_p.K664T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K664T|CNGA1_ENST00000544810.1_Missense_Mutation_p.K664T|CNGA1_ENST00000402813.3_Missense_Mutation_p.K733T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	664					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.K664T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTCAGAAATTTCTCAACCTT	0.463																																					p.K664T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1991C	4						.						92.0	89.0	90.0					4																	47938520		1847	4104	5951	47633277	SO:0001583	missense	1259	exon11			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1991A>C	4.37:g.47938520T>G	ENSP00000426862:p.Lys664Thr		47633277	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	T	3.916	-0.019092	0.07634	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96940	-4.08;-4.18;-4.18;-4.18;-4.18	4.25	-2.99	0.05497	.	0.436518	0.27176	N	0.020574	D	0.88698	0.6507	L	0.31420	0.93	0.38282	D	0.942469	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.73786	-0.3873	10	0.11182	T	0.66	.	5.8046	0.18432	0.0:0.3116:0.132:0.5564	.	664;664	Q4W5E3;P29973	.;CNGA1_HUMAN	T	733;664;664;664;664	ENSP00000384264:K733T;ENSP00000426862:K664T;ENSP00000443401:K664T;ENSP00000351320:K664T;ENSP00000389881:K664T	ENSP00000351320:K664T	K	-	2	0	CNGA1	47633277	0.991000	0.36638	0.543000	0.28128	0.973000	0.67179	0.536000	0.23129	-0.621000	0.05633	-0.415000	0.06103	AAA		0.463	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
CNGA1	1259	broad.mit.edu	37	4	47942804	47942804	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:47942804C>T	ENST00000514170.1	-	10	959	c.640G>A	c.(640-642)Gat>Aat	p.D214N	CNGA1_ENST00000420489.2_Missense_Mutation_p.D214N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D214N|CNGA1_ENST00000544810.1_Missense_Mutation_p.D214N|CNGA1_ENST00000402813.3_Missense_Mutation_p.D283N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	214					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.D214N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ACAAACATATCGATTAAATAG	0.289																																					p.D214N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G640A	4						.						75.0	71.0	72.0					4																	47942804		1824	4077	5901	47637561	SO:0001583	missense	1259	exon10			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.640G>A	4.37:g.47942804C>T	ENSP00000426862:p.Asp214Asn		47637561	NM_000087	A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	ENST00000514170.1	37	CCDS43226.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758377	0.69763	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73	5.53	5.53	0.82687	Ion transport (1);	0.049448	0.85682	D	0.000000	D	0.99296	0.9754	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98708	1.0703	10	0.87932	D	0	.	19.4468	0.94851	0.0:1.0:0.0:0.0	.	214;214	Q4W5E3;P29973	.;CNGA1_HUMAN	N	283;214;214;214;214	ENSP00000384264:D283N;ENSP00000426862:D214N;ENSP00000443401:D214N;ENSP00000351320:D214N;ENSP00000389881:D214N	ENSP00000351320:D214N	D	-	1	0	CNGA1	47637561	1.000000	0.71417	0.904000	0.35570	0.003000	0.03518	7.487000	0.81328	2.594000	0.87642	0.655000	0.94253	GAT		0.289	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372070.2	NM_000087	
TEC	7006	broad.mit.edu	37	4	48147493	48147493	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:48147493G>A	ENST00000381501.3	-	13	1342	c.1185C>T	c.(1183-1185)gtC>gtT	p.V395V	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V395V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTTTGATTGCGACTTTGTACT	0.448																																					p.V395V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1185T	4						.						165.0	141.0	149.0					4																	48147493		2203	4300	6503	47842250	SO:0001819	synonymous_variant	7006	exon13			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1185C>T	4.37:g.48147493G>A			47842250	NM_003215	B7ZKZ6|Q3MIS5	Silent	SNP	ENST00000381501.3	37	CCDS3481.1																																																																																				0.448	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		
TEC	7006	broad.mit.edu	37	4	48172308	48172308	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:48172308T>G	ENST00000381501.3	-	5	568	c.411A>C	c.(409-411)gaA>gaC	p.E137D		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	137					B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E137D(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GTGCTAATTTTTCAGTTTGTC	0.284																																					p.E137D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A411C	4						.						63.0	68.0	66.0					4																	48172308		2200	4294	6494	47867065	SO:0001583	missense	7006	exon5			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.411A>C	4.37:g.48172308T>G	ENSP00000370912:p.Glu137Asp		47867065	NM_003215	B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.964859	0.34659	.	.	ENSG00000135605	ENST00000381501	D	0.93366	-3.21	5.5	5.5	0.81552	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.054446	0.64402	D	0.000001	D	0.87826	0.6275	N	0.26042	0.785	0.45046	D	0.99806	B	0.18166	0.026	B	0.16289	0.015	D	0.83733	0.0199	10	0.13853	T	0.58	.	15.6057	0.76668	0.0:0.0:0.0:1.0	.	137	P42680	TEC_HUMAN	D	137	ENSP00000370912:E137D	ENSP00000370912:E137D	E	-	3	2	TEC	47867065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.700000	0.37815	2.082000	0.62665	0.477000	0.44152	GAA		0.284	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3		
USP46	64854	broad.mit.edu	37	4	53464862	53464862	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:53464862G>A	ENST00000441222.3	-	8	1115	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	USP46_ENST00000451218.2_Missense_Mutation_p.R284C|USP46_ENST00000508499.1_Missense_Mutation_p.R304C	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	311	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R311C(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TAATGCCCACGATTAGGACCA	0.358																																					p.R311C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931T	4						.						72.0	64.0	67.0					4																	53464862		1834	4094	5928	53159619	SO:0001583	missense	64854	exon8			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.931C>T	4.37:g.53464862G>A	ENSP00000407818:p.Arg311Cys		53159619	NM_022832	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626413	0.46840	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.31769	1.48;1.48;1.48	5.06	5.06	0.68205	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000022	T	0.28566	0.0707	L	0.37466	1.105	0.80722	D	1	P;B;P;P	0.44986	0.615;0.33;0.847;0.816	B;B;B;B	0.40940	0.17;0.139;0.344;0.233	T	0.03112	-1.1071	10	0.39692	T	0.17	-8.2084	17.7896	0.88548	0.0:0.0:1.0:0.0	.	195;299;311;304	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	C	311;284;304	ENSP00000407818:R311C;ENSP00000390102:R284C;ENSP00000423244:R304C	ENSP00000407818:R311C	R	-	1	0	USP46	53159619	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.156000	0.64905	2.524000	0.85096	0.655000	0.94253	CGT		0.358	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	
PDGFRA	5156	broad.mit.edu	37	4	55127320	55127320	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:55127320A>G	ENST00000257290.5	+	3	439	c.108A>G	c.(106-108)gaA>gaG	p.E36E	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.E36E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	36	Ig-like C2-type 1.				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.E36E(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)	ATGAAAATGAAAAGGTTGTGC	0.478			"""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.E36E	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.A108G	4						.						111.0	114.0	113.0					4																	55127320		2203	4300	6503	54822077	SO:0001819	synonymous_variant	5156	exon3	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.108A>G	4.37:g.55127320A>G			54822077	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	CCDS3495.1																																																																																				0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55144560	55144560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:55144560C>A	ENST00000257290.5	+	15	2365	c.2034C>A	c.(2032-2034)ttC>ttA	p.F678L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.F438L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	678	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.F678L(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)	AGTATTGCTTCTATGGAGATT	0.433			"""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.F678L	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2034A	4						.						104.0	104.0	104.0					4																	55144560		2203	4300	6503	54839317	SO:0001583	missense	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.2034C>A	4.37:g.55144560C>A	ENSP00000257290:p.Phe678Leu		54839317	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239320	0.39598	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.88818	-2.43;-2.43	6.06	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33650	U	0.004696	D	0.83385	0.5243	N	0.04880	-0.145	0.80722	D	1	B;D	0.54397	0.285;0.966	B;P	0.55577	0.236;0.779	D	0.83734	0.0200	10	0.39692	T	0.17	.	9.7694	0.40580	0.0:0.8063:0.0:0.1937	.	678;678	P16234-3;P16234	.;PGFRA_HUMAN	L	438;678	ENSP00000423325:F438L;ENSP00000257290:F678L	ENSP00000423325:F438L	F	+	3	2	FIP1L1;PDGFRA	54839317	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.094000	0.50227	1.576000	0.49790	0.655000	0.94253	TTC		0.433	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
REST	5978	broad.mit.edu	37	4	57777356	57777356	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:57777356G>T	ENST00000309042.7	+	2	866	c.552G>T	c.(550-552)aaG>aaT	p.K184N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	184					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.K184N(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)					ACAGTGCTAAGAAATTTTTTG	0.478																																					p.K184N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G552T	4						.						79.0	80.0	79.0					4																	57777356		2203	4300	6503	57472113	SO:0001583	missense	5978	exon2			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.552G>T	4.37:g.57777356G>T	ENSP00000311816:p.Lys184Asn		57472113	NM_001193508	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525118	0.44969	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.09538	2.97	6.02	4.13	0.48395	Zinc finger, C2H2 (1);	0.079841	0.51477	D	0.000086	T	0.09730	0.0239	L	0.41824	1.3	0.53688	D	0.999979	B;P	0.51057	0.406;0.941	B;B	0.39027	0.081;0.288	T	0.08493	-1.0719	10	0.56958	D	0.05	-23.9963	12.396	0.55384	0.0684:0.0:0.8047:0.1269	.	184;184	Q13127-2;Q13127	.;REST_HUMAN	N	184	ENSP00000311816:K184N	ENSP00000311816:K184N	K	+	3	2	REST	57472113	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.375000	0.44283	1.562000	0.49601	0.655000	0.94253	AAG		0.478	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
LPHN3	23284	broad.mit.edu	37	4	62679560	62679560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:62679560C>A	ENST00000514591.1	+	8	1558	c.1229C>A	c.(1228-1230)tCt>tAt	p.S410Y	LPHN3_ENST00000509896.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.S410Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S478Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S410Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S478Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	410					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.S410Y(3)|p.S410F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						tcatacatttctccgccaatt	0.363																																					p.S410Y												.	.	6	Substitution - Missense(6)	large_intestine(3)|lung(3)	c.C1229A	4						.						127.0	118.0	121.0					4																	62679560		1934	4142	6076	62362155	SO:0001583	missense	23284	exon6			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.1229C>A	4.37:g.62679560C>A	ENSP00000422533:p.Ser410Tyr		62362155	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177586	0.38413	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.52;-0.53;-0.56;-0.56;-0.52;-0.53;-0.56;-0.55;-0.55;-0.53;-0.53;-0.53;-0.56;-0.56;-0.53	3.67	3.67	0.42095	.	0.651853	0.15757	N	0.246156	T	0.55609	0.1931	N	0.19112	0.55	0.25694	N	0.985659	B;B	0.13145	0.004;0.007	B;B	0.16722	0.004;0.016	T	0.52675	-0.8544	10	0.59425	D	0.04	.	11.1945	0.48704	0.0:1.0:0.0:0.0	.	410;410	E9PE04;Q9HAR2-2	.;.	Y	410;410;478;478;410;410;410;410;410;478;478;478;410;410;410;478;478;410	ENSP00000423388:S410Y;ENSP00000422533:S410Y;ENSP00000423787:S478Y;ENSP00000425033:S478Y;ENSP00000424120:S410Y;ENSP00000439831:S410Y;ENSP00000421476:S478Y;ENSP00000424030:S478Y;ENSP00000421372:S478Y;ENSP00000425201:S410Y;ENSP00000423434:S410Y;ENSP00000421627:S410Y;ENSP00000420931:S478Y;ENSP00000425884:S478Y;ENSP00000424258:S410Y	ENSP00000280009:S410Y	S	+	2	0	LPHN3	62362155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.846000	0.48262	2.343000	0.79666	0.563000	0.77884	TCT		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62903502	62903502	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:62903502T>C	ENST00000514591.1	+	23	3770	c.3441T>C	c.(3439-3441)agT>agC	p.S1147S	LPHN3_ENST00000509896.1_Silent_p.S1215S|LPHN3_ENST00000507625.1_Silent_p.S1206S|LPHN3_ENST00000504896.1_Silent_p.S1147S|LPHN3_ENST00000511324.1_Silent_p.S1206S|LPHN3_ENST00000545650.1_Silent_p.S1147S|LPHN3_ENST00000512091.2_Silent_p.S1147S|LPHN3_ENST00000507164.1_Silent_p.S1206S|LPHN3_ENST00000514996.1_Silent_p.S1138S|LPHN3_ENST00000508946.1_Silent_p.S1147S|LPHN3_ENST00000506720.1_Silent_p.S1215S|LPHN3_ENST00000508693.1_Silent_p.S1215S|LPHN3_ENST00000514157.1_Silent_p.S1138S|LPHN3_ENST00000506700.1_Silent_p.S1138S|LPHN3_ENST00000506746.1_Silent_p.S1206S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1125					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.S1147S(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGCAAAAGTACAGAGAGTT	0.413																																					p.S1147S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.T3441C	4						.						144.0	146.0	145.0					4																	62903502		1964	4177	6141	62586097	SO:0001819	synonymous_variant	23284	exon21			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.3441T>C	4.37:g.62903502T>C			62586097	NM_015236	E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.251248	0.22880	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.33	4.16	0.48862	.	.	.	.	.	T	0.55337	0.1914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51553	-0.8691	4	.	.	.	.	5.9598	0.19293	0.1455:0.0785:0.0:0.776	.	.	.	.	H	596	.	.	Y	+	1	0	LPHN3	62586097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.608000	0.36847	0.981000	0.38548	0.528000	0.53228	TAC		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
EPHA5	2044	broad.mit.edu	37	4	66280129	66280129	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:66280129A>C	ENST00000273854.3	-	7	2160	c.1560T>G	c.(1558-1560)tcT>tcG	p.S520S	EPHA5_ENST00000511294.1_Silent_p.S520S|EPHA5_ENST00000432638.2_Silent_p.S356S|EPHA5_ENST00000354839.4_Silent_p.S520S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	520	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.S520S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTGTCTCTTTAGATTTGATAA	0.398										TSP Lung(17;0.13)																											p.S520S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1560G	4						.						176.0	142.0	153.0					4																	66280129		2203	4300	6503	65962724	SO:0001819	synonymous_variant	2044	exon7			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1560T>G	4.37:g.66280129A>C			65962724	NM_004439	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				0.398	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
TMPRSS11F	389208	broad.mit.edu	37	4	68930434	68930434	+	Silent	SNP	G	G	A	rs144406616		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:68930434G>A	ENST00000356291.2	-	8	1043	c.984C>T	c.(982-984)ttC>ttT	p.F328F	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	328	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.F328F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATCCTGTGACGAACACACTTG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17449	0.001		0.0	False		,,,				2504	0.0				p.F328F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C984T	4						.	G		1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		984	0.6	1.0	4	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TMPRSS11F	NM_207407.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		328/439	68930434	3,13003	2203	4300	6503	68613029	SO:0001819	synonymous_variant	389208	exon8			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.984C>T	4.37:g.68930434G>A			68613029	NM_207407	A8MXX2	Silent	SNP	ENST00000356291.2	37	CCDS3520.1																																																																																				0.393	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
TMPRSS11F	389208	broad.mit.edu	37	4	68930597	68930597	+	Missense_Mutation	SNP	C	C	T	rs377605520		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:68930597C>T	ENST00000356291.2	-	8	880	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	RP11-35D5.1_ENST00000600441.1_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	274	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R274Q(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CCTCACATTTCGTTTCACTGC	0.343																																					p.R274Q												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G821A	4						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	71.0	73.0		821	4.9	0.9	4		73	0,8600		0,0,4300	no	missense	TMPRSS11F	NM_207407.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	274/439	68930597	1,13005	2203	4300	6503	68613192	SO:0001583	missense	389208	exon8			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.821G>A	4.37:g.68930597C>T	ENSP00000348639:p.Arg274Gln		68613192	NM_207407	A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082564	0.36758	2.27E-4	0.0	ENSG00000198092	ENST00000356291	D	0.93547	-3.24	5.71	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48286	D	0.000187	D	0.89114	0.6623	M	0.68728	2.09	0.32928	D	0.516753	D	0.55385	0.971	B	0.32211	0.142	D	0.92248	0.5806	10	0.52906	T	0.07	.	11.1263	0.48320	0.0:0.9129:0.0:0.0871	.	274	Q6ZWK6	TM11F_HUMAN	Q	274	ENSP00000348639:R274Q	ENSP00000348639:R274Q	R	-	2	0	TMPRSS11F	68613192	0.001000	0.12720	0.940000	0.37924	0.227000	0.25037	1.314000	0.33597	2.709000	0.92574	0.655000	0.94253	CGA		0.343	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	
TMPRSS11B	132724	broad.mit.edu	37	4	69094579	69094579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:69094579C>A	ENST00000332644.5	-	9	1131	c.970G>T	c.(970-972)Gaa>Taa	p.E324*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	324	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.E324*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AAAAAGTCTTCTTGAAGTATC	0.353																																					p.E324X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G970T	4						.						102.0	93.0	96.0					4																	69094579		2203	4300	6503	68777174	SO:0001587	stop_gained	132724	exon9			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.970G>T	4.37:g.69094579C>A	ENSP00000330475:p.Glu324*		68777174	NM_182502	A8K4D9	Nonsense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154379	0.57259	.	.	ENSG00000185873	ENST00000332644	.	.	.	4.47	-4.0	0.04057	.	1.012140	0.07945	N	0.979984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	17.1461	0.86767	0.0:0.7337:0.1607:0.1056	.	.	.	.	X	324	.	ENSP00000330475:E324X	E	-	1	0	TMPRSS11B	68777174	0.060000	0.20803	0.331000	0.25455	0.402000	0.30811	-0.276000	0.08514	-1.095000	0.03050	-0.955000	0.02649	GAA		0.353	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
UGT2B17	7367	broad.mit.edu	37	4	69431384	69431384	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:69431384C>T	ENST00000317746.2	-	2	821	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	260					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R260Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	CCAATAGGTTCGAATGAGCCA	0.403																																					p.R260Q	Melanoma(18;649 833 28984 37818 38500)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G779A	4						.						69.0	70.0	69.0					4																	69431384		2084	3885	5969	69113979	SO:0001583	missense	7367	exon2			U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.779G>A	4.37:g.69431384C>T	ENSP00000320401:p.Arg260Gln		69113979	NM_001077		Missense_Mutation	SNP	ENST00000317746.2	37	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.649698	0.67358	.	.	ENSG00000197888	ENST00000317746	T	0.62105	0.05	2.49	2.49	0.30216	.	0.000000	0.64402	U	0.000004	T	0.68732	0.3033	M	0.73753	2.245	0.26977	N	0.965445	.	.	.	.	.	.	T	0.63475	-0.6629	8	0.59425	D	0.04	.	10.7333	0.46109	0.0:1.0:0.0:0.0	.	.	.	.	Q	260	ENSP00000320401:R260Q	ENSP00000320401:R260Q	R	-	2	0	UGT2B17	69113979	1.000000	0.71417	0.552000	0.28243	0.908000	0.53690	5.137000	0.64789	1.424000	0.47217	0.400000	0.26472	CGA		0.403	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077	
UGT2B7	7364	broad.mit.edu	37	4	69962614	69962614	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:69962614T>C	ENST00000508661.1	+	1	403	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L	UGT2B7_ENST00000305231.7_Missense_Mutation_p.F126L|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	126					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.F126L(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)	AACTAGAAAGTTCTGTAAAGA	0.313																																					p.F126L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T376C	4						.						53.0	54.0	53.0					4																	69962614		2188	4297	6485	69997203	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.376T>C	4.37:g.69962614T>C	ENSP00000427659:p.Phe126Leu		69997203	NM_001074	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	0.007	-1.987645	0.00443	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60299	0.2;0.2	2.2	-4.4	0.03600	.	1.178490	0.06381	N	0.715244	T	0.21718	0.0523	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.10965	-1.0607	9	.	.	.	.	4.4424	0.11580	0.1605:0.5068:0.0:0.3327	.	126;126	E9PBP8;P16662	.;UD2B7_HUMAN	L	126	ENSP00000304811:F126L;ENSP00000427659:F126L	.	F	+	1	0	UGT2B7	69997203	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.312000	0.08113	-1.663000	0.01481	-0.991000	0.02546	TTC		0.313	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074	
UGT2A1	10941	broad.mit.edu	37	4	70512732	70512732	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:70512732T>G	ENST00000503640.1	-	1	686	c.631A>C	c.(631-633)Aga>Cga	p.R211R	UGT2A1_ENST00000514019.1_Silent_p.R211R|UGT2A1_ENST00000286604.4_Silent_p.R211R|UGT2A1_ENST00000512704.1_Silent_p.R211R	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	211					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R211R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGAAATTTCTTATTCTGTCA	0.383																																					p.R211R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A631C	4						.						83.0	76.0	78.0					4																	70512732		2203	4299	6502	70547321	SO:0001819	synonymous_variant	10941	exon1			AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.631A>C	4.37:g.70512732T>G			70547321	NM_006798	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	CCDS3529.1																																																																																				0.383	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
ENAM	10117	broad.mit.edu	37	4	71508597	71508597	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:71508597T>G	ENST00000396073.3	+	9	1735	c.1454T>G	c.(1453-1455)tTt>tGt	p.F485C	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	485					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.F485C(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GTCCCAAATTTTAATTCTGTT	0.388																																					p.F485C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1454G	4						.						38.0	39.0	39.0					4																	71508597		2200	4299	6499	71727461	SO:0001583	missense	10117	exon9			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1454T>G	4.37:g.71508597T>G	ENSP00000379383:p.Phe485Cys		71727461	NM_031889	Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656981	0.47467	.	.	ENSG00000132464	ENST00000396073	T	0.37584	1.19	5.93	4.77	0.60923	.	0.105878	0.43260	D	0.000590	T	0.57888	0.2084	M	0.83953	2.67	0.33429	D	0.580905	D	0.89917	1.0	D	0.73708	0.981	T	0.70483	-0.4859	10	0.52906	T	0.07	-8.2758	7.9595	0.30062	0.0:0.0884:0.0:0.9116	.	485	Q9NRM1	ENAM_HUMAN	C	485	ENSP00000379383:F485C	ENSP00000379383:F485C	F	+	2	0	ENAM	71727461	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.750000	0.47500	2.281000	0.76405	0.533000	0.62120	TTT		0.388	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
ADAMTS3	9508	broad.mit.edu	37	4	73414530	73414530	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:73414530G>T	ENST00000286657.4	-	3	205	c.169C>A	c.(169-171)Ctc>Atc	p.L57I	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	57					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L57I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTATGGGAGAGATAGCGTCCT	0.443																																					p.L57I	NSCLC(168;1941 2048 2918 13048 43078)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C169A	4						.						86.0	81.0	82.0					4																	73414530		2203	4300	6503	73633394	SO:0001583	missense	9508	exon3			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.169C>A	4.37:g.73414530G>T	ENSP00000286657:p.Leu57Ile		73633394	NM_014243	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546409	0.45383	.	.	ENSG00000156140	ENST00000286657	T	0.06933	3.24	5.74	4.88	0.63580	Peptidase M12B, propeptide (1);	0.100936	0.40064	N	0.001182	T	0.07548	0.0190	L	0.31804	0.96	0.35372	D	0.789101	B	0.24368	0.102	B	0.32289	0.143	T	0.31530	-0.9940	10	0.23302	T	0.38	.	9.3379	0.38062	0.0:0.2527:0.4998:0.2475	.	57	O15072	ATS3_HUMAN	I	57	ENSP00000286657:L57I	ENSP00000286657:L57I	L	-	1	0	ADAMTS3	73633394	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.548000	0.45794	1.518000	0.48934	0.643000	0.83706	CTC		0.443	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2		
ALB	213	broad.mit.edu	37	4	74279174	74279174	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:74279174C>T	ENST00000503124.1	+	6	638	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ALB_ENST00000295897.4_Missense_Mutation_p.S294L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.S102L|ALB_ENST00000401494.3_Missense_Mutation_p.S179L|ALB_ENST00000509063.1_Missense_Mutation_p.S294L			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.S294L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATCAAGATTCGATCTCCAGT	0.423																																					p.S294L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C881T	4						.						97.0	94.0	95.0					4																	74279174		2203	4300	6503	74498038	SO:0001583	missense	213	exon8			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.431C>T	4.37:g.74279174C>T	ENSP00000421027:p.Ser144Leu		74498038	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	C	10.05	1.244651	0.22796	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	6.02	3.25	0.37280	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.305960	0.05191	N	0.503146	T	0.65698	0.2716	L	0.60455	1.87	0.09310	N	1	P;B;B;B;B	0.52842	0.956;0.324;0.324;0.449;0.449	B;B;B;B;B	0.40009	0.316;0.027;0.042;0.053;0.027	T	0.54549	-0.8277	10	0.72032	D	0.01	-0.6139	4.5748	0.12228	0.3999:0.3998:0.1293:0.071	.	179;102;144;294;294	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	L	294;102;144;294;179;303	ENSP00000295897:S294L;ENSP00000401820:S102L;ENSP00000421027:S144L;ENSP00000422784:S294L;ENSP00000384695:S179L	ENSP00000295897:S294L	S	+	2	0	ALB	74498038	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.062000	0.11674	0.370000	0.24538	0.650000	0.86243	TCG		0.423	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ALB	213	broad.mit.edu	37	4	74285353	74285353	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:74285353G>T	ENST00000503124.1	+	11	1539	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	ALB_ENST00000295897.4_Missense_Mutation_p.E594D|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.E402D|ALB_ENST00000401494.3_Missense_Mutation_p.E479D|ALB_ENST00000509063.1_Missense_Mutation_p.E594D			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.E594D(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)			GCTTTGCCGAGGAGGTACTAC	0.418																																					p.E594D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1782T	4						.						143.0	142.0	142.0					4																	74285353		2203	4300	6503	74504217	SO:0001583	missense	213	exon13			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1332G>T	4.37:g.74285353G>T	ENSP00000421027:p.Glu444Asp		74504217	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.81|13.81	2.347435|2.347435	0.41599|0.41599	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.59224|.	0.28;0.28;0.28;0.28;0.28|.	6.06|6.06	-1.2|-1.2	0.09554|0.09554	Serum albumin, conserved site (1);Serum albumin-like (1);Serum albumin, N-terminal (2);|.	0.983616|.	0.08341|.	N|.	0.960885|.	T|.	0.45836|.	0.1362|.	M|M	0.73598|0.73598	2.24|2.24	0.22446|0.22446	N|N	0.999093|0.999093	B;B;B;B;B|.	0.21381|.	0.055;0.005;0.052;0.003;0.011|.	B;B;B;B;B|.	0.22152|.	0.006;0.002;0.038;0.01;0.013|.	T|.	0.44922|.	-0.9296|.	10|.	0.51188|.	T|.	0.08|.	-0.1134|-0.1134	5.9234|5.9234	0.19094|0.19094	0.6413:0.0:0.2009:0.1578|0.6413:0.0:0.2009:0.1578	.|.	479;402;444;594;594|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	D|X	594;402;381;444;594;479;603|439	ENSP00000295897:E594D;ENSP00000401820:E402D;ENSP00000421027:E444D;ENSP00000422784:E594D;ENSP00000384695:E479D|.	ENSP00000295897:E594D|.	E|G	+|+	3|1	2|0	ALB|ALB	74504217|74504217	0.084000|0.084000	0.21492|0.21492	0.057000|0.057000	0.19452|0.19452	0.243000|0.243000	0.25628|0.25628	0.253000|0.253000	0.18296|0.18296	-0.130000|-0.130000	0.11599|0.11599	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.418	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
ART3	419	broad.mit.edu	37	4	77003569	77003569	+	Missense_Mutation	SNP	G	G	T	rs550091630		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:77003569G>T	ENST00000355810.4	+	3	781	c.662G>T	c.(661-663)aGa>aTa	p.R221I	ART3_ENST00000341029.5_Missense_Mutation_p.R221I|ART3_ENST00000349321.3_Missense_Mutation_p.R221I|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	221					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R221I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAAGTGAAAGAATTACTTTA	0.403																																					p.R221I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662T	4						.						62.0	62.0	62.0					4																	77003569		2203	4300	6503	77222593	SO:0001583	missense	419	exon3			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.662G>T	4.37:g.77003569G>T	ENSP00000348064:p.Arg221Ile		77222593	NM_001179	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136190	0.37728	.	.	ENSG00000156219	ENST00000341029;ENST00000355810;ENST00000349321	T;T;T	0.09073	3.02;3.02;3.02	6.04	1.91	0.25777	.	0.796466	0.12165	N	0.493615	T	0.17662	0.0424	M	0.76170	2.325	0.09310	N	1	P;D;P;P;P	0.53151	0.863;0.958;0.889;0.865;0.889	B;P;P;B;B	0.51657	0.355;0.676;0.457;0.307;0.359	T	0.09207	-1.0685	9	.	.	.	-11.3866	8.0494	0.30568	0.4892:0.0:0.5108:0.0	.	191;221;221;221;221	D6RBN3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;NAR3_HUMAN;.;.	I	221	ENSP00000343843:R221I;ENSP00000348064:R221I;ENSP00000304313:R221I	.	R	+	2	0	ART3	77222593	0.000000	0.05858	0.045000	0.18777	0.905000	0.53344	0.090000	0.15025	0.021000	0.15133	0.563000	0.77884	AGA		0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179	
CCDC158	339965	broad.mit.edu	37	4	77247111	77247111	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:77247111G>A	ENST00000388914.3	-	22	3208	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1019	Ser-rich.							p.S1019F(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						GTGCACTGGAGACTTCTTAGG	0.358																																					p.S1019F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3056T	4						.						162.0	158.0	159.0					4																	77247111		1857	4099	5956	77466135	SO:0001583	missense	339965	exon22			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.3056C>T	4.37:g.77247111G>A	ENSP00000373566:p.Ser1019Phe		77466135	NM_001042784	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653663	0.67472	.	.	ENSG00000163749	ENST00000388914;ENST00000318586	T	0.47177	0.85	4.96	4.96	0.65561	.	0.468805	0.18561	N	0.137628	T	0.47544	0.1451	N	0.24115	0.695	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	T	0.45963	-0.9225	10	0.59425	D	0.04	.	13.9054	0.63831	0.0:0.0:1.0:0.0	.	1019	Q5M9N0	CD158_HUMAN	F	1019;439	ENSP00000373566:S1019F	ENSP00000316815:S439F	S	-	2	0	CCDC158	77466135	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.235000	0.58666	2.753000	0.94483	0.555000	0.69702	TCT		0.358	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
CNOT6L	246175	broad.mit.edu	37	4	78663367	78663367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:78663367G>T	ENST00000504123.1	-	8	930	c.800C>A	c.(799-801)tCa>tAa	p.S267*	CNOT6L_ENST00000264903.4_Nonsense_Mutation_p.S267*|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	267	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGGCACGTGACTTTGGAGA	0.393																																					p.S267X												.	.	0			c.C800A	4						.						80.0	71.0	74.0					4																	78663367		1904	4131	6035	78882391	SO:0001587	stop_gained	246175	exon8			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.800C>A	4.37:g.78663367G>T	ENSP00000424896:p.Ser267*		78882391	NM_144571	Q9UF92	Nonsense_Mutation	SNP	ENST00000504123.1	37		.	.	.	.	.	.	.	.	.	.	G	26.3	4.727138	0.89390	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5357	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	267;267;274;42	.	ENSP00000264903:S267X	S	-	2	0	CNOT6L	78882391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCA		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		
C4orf22	255119	broad.mit.edu	37	4	81866076	81866076	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:81866076C>A	ENST00000358105.3	+	5	638	c.589C>A	c.(589-591)Ctt>Att	p.L197I	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333																																					p.L197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589A	4						.						71.0	75.0	73.0					4																	81866076		2203	4297	6500	82085100	SO:0001583	missense	255119	exon5			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.589C>A	4.37:g.81866076C>A	ENSP00000350818:p.Leu197Ile		82085100	NM_152770	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	ENST00000358105.3	37	CCDS3587.1	.	.	.	.	.	.	.	.	.	.	C	1.754	-0.488569	0.04352	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.20598	2.06;2.06	5.57	3.66	0.41972	.	0.083419	0.45361	D	0.000370	T	0.08268	0.0206	N	0.05383	-0.06	0.34134	D	0.665559	B;B	0.18013	0.025;0.001	B;B	0.24006	0.05;0.008	T	0.23332	-1.0191	10	0.02654	T	1	.	8.0694	0.30680	0.208:0.704:0.0:0.088	.	214;197	E7EQ13;Q6V702	.;CD022_HUMAN	I	197;214	ENSP00000350818:L197I;ENSP00000425786:L214I	ENSP00000350818:L197I	L	+	1	0	C4orf22	82085100	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	0.775000	0.26689	2.618000	0.88619	0.655000	0.94253	CTT		0.333	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252629.2	NM_152770	
BMP3	651	broad.mit.edu	37	4	81967605	81967605	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:81967605C>T	ENST00000282701.2	+	2	1350	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	344					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.R344W(2)		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						GGGGCCTCATCGGAAGAGCCA	0.493																																					p.R344W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1030T	4						.						45.0	46.0	46.0					4																	81967605		2203	4300	6503	82186629	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.1030C>T	4.37:g.81967605C>T	ENSP00000282701:p.Arg344Trp		82186629	NM_001201	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038312	0.19669	.	.	ENSG00000152785	ENST00000282701	T	0.74737	-0.87	5.16	3.28	0.37604	.	0.211174	0.50627	D	0.000103	T	0.53981	0.1830	N	0.08118	0	0.09310	N	0.999994	B	0.28291	0.206	B	0.13407	0.009	T	0.54807	-0.8238	10	0.66056	D	0.02	.	14.8548	0.70329	0.0:0.7271:0.2729:0.0	.	344	P12645	BMP3_HUMAN	W	344	ENSP00000282701:R344W	ENSP00000282701:R344W	R	+	1	2	BMP3	82186629	0.997000	0.39634	0.381000	0.26106	0.009000	0.06853	3.559000	0.53756	1.287000	0.44583	-0.175000	0.13238	CGG		0.493	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
THAP9	79725	broad.mit.edu	37	4	83827671	83827671	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:83827671G>T	ENST00000302236.5	+	3	522	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	157					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.K157N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCTCCGTAAAGAACTACAGGA	0.383																																					p.K157N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G471T	4						.						80.0	76.0	77.0					4																	83827671		2203	4300	6503	84046695	SO:0001583	missense	79725	exon3			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.471G>T	4.37:g.83827671G>T	ENSP00000305533:p.Lys157Asn		84046695	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778381	0.31502	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.39406	1.08	3.87	2.59	0.31030	.	0.924711	0.09070	N	0.853090	T	0.28234	0.0697	L	0.38175	1.15	0.27290	N	0.957861	B	0.30482	0.281	B	0.22152	0.038	T	0.19321	-1.0309	10	0.22109	T	0.4	-6.4201	5.9756	0.19377	0.8806:0.0:0.1194:0.0	.	157	Q9H5L6	THAP9_HUMAN	N	157	ENSP00000305533:K157N	ENSP00000305533:K157N	K	+	3	2	THAP9	84046695	0.922000	0.31269	0.839000	0.33178	0.946000	0.59487	1.372000	0.34261	0.834000	0.34852	-0.423000	0.05987	AAG		0.383	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
AGPAT9	84803	broad.mit.edu	37	4	84502803	84502803	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:84502803C>A	ENST00000395226.2	+	4	515	c.297C>A	c.(295-297)ttC>ttA	p.F99L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.F99L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	99					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.F99L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGTTTTATTTCTCCAAGAAGG	0.438																																					p.F99L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C297A	4						.						181.0	179.0	180.0					4																	84502803		2203	4300	6503	84721827	SO:0001583	missense	84803	exon3			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.297C>A	4.37:g.84502803C>A	ENSP00000378651:p.Phe99Leu		84721827	NM_032717	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454991	0.84209	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.50001	0.76;0.76	5.66	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.70716	0.97	T	0.62267	-0.6890	10	0.33141	T	0.24	-22.2884	10.6518	0.45653	0.0:0.8542:0.0:0.1458	.	99	Q53EU6	GPAT3_HUMAN	L	99	ENSP00000378651:F99L;ENSP00000264409:F99L	ENSP00000264409:F99L	F	+	3	2	AGPAT9	84721827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.051000	0.71072	1.414000	0.47017	0.644000	0.83932	TTC		0.438	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
CDS1	1040	broad.mit.edu	37	4	85538804	85538804	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:85538804A>C	ENST00000295887.5	+	4	853	c.430A>C	c.(430-432)Aca>Cca	p.T144P		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.T144P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATGGTTTAGAACACTAAGTTG	0.348																																					p.T144P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A430C	4						.						117.0	113.0	114.0					4																	85538804		2203	4298	6501	85757828	SO:0001583	missense	1040	exon4			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.430A>C	4.37:g.85538804A>C	ENSP00000295887:p.Thr144Pro		85757828	NM_001263	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000295887.5	37	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.908301	0.72868	.	.	ENSG00000163624	ENST00000295887	T	0.45276	0.9	5.69	5.69	0.88448	.	0.046220	0.85682	D	0.000000	T	0.62527	0.2435	M	0.82056	2.57	0.58432	D	0.999995	D	0.61697	0.99	D	0.64410	0.925	T	0.64719	-0.6341	10	0.42905	T	0.14	-15.5171	11.7116	0.51628	0.8603:0.0:0.0:0.1397	.	144	Q92903	CDS1_HUMAN	P	144	ENSP00000295887:T144P	ENSP00000295887:T144P	T	+	1	0	CDS1	85757828	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	5.115000	0.64655	2.167000	0.68274	0.533000	0.62120	ACA		0.348	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		
CDS1	1040	broad.mit.edu	37	4	85555012	85555012	+	Silent	SNP	C	C	T	rs375840719		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:85555012C>T	ENST00000295887.5	+	7	1065	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.F214F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ATTAACAGTTCGCATGGACTC	0.393																																					p.F214F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	4						.	C		1,4405	2.1+/-5.4	0,1,2202	145.0	123.0	131.0		642	5.1	1.0	4		131	0,8600		0,0,4300	no	coding-synonymous	CDS1	NM_001263.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		214/462	85555012	1,13005	2203	4300	6503	85774036	SO:0001819	synonymous_variant	1040	exon7			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.642C>T	4.37:g.85555012C>T			85774036	NM_001263	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	CCDS3608.1																																																																																				0.393	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2		
MAPK10	5602	broad.mit.edu	37	4	87023118	87023118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:87023118G>A	ENST00000359221.3	-	7	1019	c.493C>T	c.(493-495)Cga>Tga	p.R165*	MAPK10_ENST00000449047.2_Nonsense_Mutation_p.R20*|MAPK10_ENST00000395157.3_Nonsense_Mutation_p.R20*|MAPK10_ENST00000395166.1_Nonsense_Mutation_p.R127*|MAPK10_ENST00000395161.2_Nonsense_Mutation_p.R165*|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Nonsense_Mutation_p.R127*|MAPK10_ENST00000395160.3_Nonsense_Mutation_p.R20*|MAPK10_ENST00000361569.2_Nonsense_Mutation_p.R165*			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.R165*(1)|p.R20*(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TAAGACATTCGCTCATGGTCT	0.408																																					p.R20X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C58T	4						.						271.0	251.0	257.0					4																	87023118		2203	4300	6503	87242142	SO:0001587	stop_gained	5602	exon2			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.493C>T	4.37:g.87023118G>A	ENSP00000352157:p.Arg165*		87242142	NM_138981	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Nonsense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.151358|8.151358	0.98678|0.98678	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|.	.|.	.|.	5.94|5.94	4.05|4.05	0.47172|0.47172	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.35364|.	0.0929|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24012|.	-1.0172|.	3|.	.|0.02654	.|T	.|1	-1.9218|-1.9218	15.34|15.34	0.74287|0.74287	0.0:0.0:0.7738:0.2262|0.0:0.0:0.7738:0.2262	.|.	.|.	.|.	.|.	V|X	77|127;165;20;165;127;20;20;165	.|.	.|ENSP00000352157:R165X	A|R	-|-	2|1	0|2	MAPK10|MAPK10	87242142|87242142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.958000|5.958000	0.70330|0.70330	2.824000|2.824000	0.97209|0.97209	0.650000|0.650000	0.86243|0.86243	GCG|CGA		0.408	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
AFF1	4299	broad.mit.edu	37	4	88052956	88052956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:88052956C>A	ENST00000307808.6	+	17	3512	c.3092C>A	c.(3091-3093)tCa>tAa	p.S1031*	AFF1_ENST00000544085.1_Nonsense_Mutation_p.S669*|AFF1_ENST00000395146.4_Nonsense_Mutation_p.S1038*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1031					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S1038*(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCATAATGTCATTAAAATCC	0.303																																					p.S1038X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3113A	4						.						103.0	99.0	100.0					4																	88052956		2202	4300	6502	88271980	SO:0001587	stop_gained	4299	exon18			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3092C>A	4.37:g.88052956C>A	ENSP00000305689:p.Ser1031*		88271980	NM_001166693	B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	39	7.630674	0.98399	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	.	.	.	5.64	5.64	0.86602	.	0.426786	0.22313	N	0.061714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-15.4231	14.191	0.65637	0.1496:0.8504:0.0:0.0	.	.	.	.	X	1038;1031;669	.	ENSP00000305689:S1031X	S	+	2	0	AFF1	88271980	0.996000	0.38824	0.996000	0.52242	0.112000	0.19704	1.774000	0.38573	2.653000	0.90120	0.655000	0.94253	TCA		0.303	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
ABCG2	9429	broad.mit.edu	37	4	89018725	89018725	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:89018725C>A	ENST00000237612.3	-	13	2072	c.1527G>T	c.(1525-1527)atG>atT	p.M509I	ABCG2_ENST00000515655.1_Missense_Mutation_p.M509I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	509	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.M509I(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)	GGGTAAACATCATAACGAAGA	0.458																																					p.M509I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1527T	4						.						123.0	110.0	115.0					4																	89018725		2203	4300	6503	89237749	SO:0001583	missense	9429	exon13			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.1527G>T	4.37:g.89018725C>A	ENSP00000237612:p.Met509Ile		89237749	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145727	0.57044	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.71698	-0.59;-0.59	5.5	5.5	0.81552	ABC-2 type transporter (1);	0.205916	0.64402	D	0.000011	T	0.79470	0.4451	L	0.58428	1.81	0.50467	D	0.999877	P;P;P	0.51933	0.766;0.949;0.891	B;P;P	0.56163	0.312;0.793;0.643	T	0.79722	-0.1684	10	0.52906	T	0.07	-27.1498	19.0075	0.92857	0.0:1.0:0.0:0.0	.	509;509;509	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	I	509	ENSP00000426917:M509I;ENSP00000237612:M509I	ENSP00000237612:M509I	M	-	3	0	ABCG2	89237749	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	4.939000	0.63526	2.584000	0.87258	0.557000	0.71058	ATG		0.458	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
ABCG2	9429	broad.mit.edu	37	4	89022393	89022393	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:89022393C>A	ENST00000237612.3	-	11	1901	c.1356G>T	c.(1354-1356)aaG>aaT	p.K452N	ABCG2_ENST00000515655.1_Missense_Mutation_p.K452N	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	452	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.K452N(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)	TGAAGAGCTTCTTCTCTACCA	0.517																																					p.K452N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1356T	4						.						98.0	77.0	84.0					4																	89022393		2203	4300	6503	89241417	SO:0001583	missense	9429	exon11			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.1356G>T	4.37:g.89022393C>A	ENSP00000237612:p.Lys452Asn		89241417	NM_004827	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103158	0.56183	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.71579	-0.58;-0.58	5.76	3.81	0.43845	ABC-2 type transporter (1);	0.041854	0.85682	D	0.000000	T	0.69287	0.3094	M	0.64997	1.995	0.45035	D	0.998054	P;P;B	0.41524	0.753;0.567;0.314	B;B;B	0.42163	0.288;0.248;0.378	T	0.69367	-0.5164	10	0.52906	T	0.07	-17.3661	12.4218	0.55524	0.0:0.8463:0.0:0.1537	.	452;452;452	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	N	452	ENSP00000426917:K452N;ENSP00000237612:K452N	ENSP00000237612:K452N	K	-	3	2	ABCG2	89241417	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.245000	0.18142	0.716000	0.32124	0.650000	0.86243	AAG		0.517	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
HERC6	55008	broad.mit.edu	37	4	89329708	89329708	+	Missense_Mutation	SNP	A	A	G	rs571683231		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:89329708A>G	ENST00000264346.7	+	11	1366	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	HERC6_ENST00000380265.5_Missense_Mutation_p.D436G	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	436					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.D436G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		ATTGATGTGGACTTAGAAATG	0.338													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19240	0.0		0.0	False		,,,				2504	0.0				p.T436A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1306G	4						.						79.0	70.0	73.0					4																	89329708		1843	4097	5940	89548731	SO:0001583	missense	55008	exon11			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.1307A>G	4.37:g.89329708A>G	ENSP00000264346:p.Asp436Gly		89548731	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721379	0.48728	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.57273	0.41;0.72	4.63	0.507	0.16967	.	0.163537	0.40728	N	0.001022	T	0.60274	0.2256	M	0.73962	2.25	0.31111	N	0.709984	P;P	0.51351	0.944;0.908	P;P	0.53146	0.719;0.527	T	0.65734	-0.6096	10	0.72032	D	0.01	.	10.0251	0.42066	0.5422:0.4578:0.0:0.0	.	436;436	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	G	436	ENSP00000369617:D436G;ENSP00000264346:D436G	ENSP00000264346:D436G	D	+	2	0	HERC6	89548731	1.000000	0.71417	0.368000	0.25939	0.782000	0.44232	2.837000	0.48191	0.023000	0.15187	0.397000	0.26171	GAC		0.338	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HERC3	8916	broad.mit.edu	37	4	89599224	89599224	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:89599224T>C	ENST00000402738.1	+	19	2374	c.2135T>C	c.(2134-2136)gTt>gCt	p.V712A	HERC3_ENST00000543130.1_Missense_Mutation_p.V156A|HERC3_ENST00000264345.3_Missense_Mutation_p.V712A	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	712					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V712A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AACAACCTTGTTGGAGATGCC	0.478																																					p.V712A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2135C	4						.						106.0	106.0	106.0					4																	89599224		2203	4300	6503	89818247	SO:0001583	missense	8916	exon19			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2135T>C	4.37:g.89599224T>C	ENSP00000385684:p.Val712Ala		89818247	NM_014606	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797257	0.90538	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.35	5.35	0.76521	HECT (1);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88902	0.3353	10	0.62326	D	0.03	.	15.5138	0.75806	0.0:0.0:0.0:1.0	.	712	Q15034	HERC3_HUMAN	A	712;712;156;105	ENSP00000385684:V712A;ENSP00000264345:V712A;ENSP00000441703:V156A;ENSP00000421021:V105A	ENSP00000264345:V712A	V	+	2	0	HERC3	89818247	1.000000	0.71417	0.935000	0.37517	0.985000	0.73830	7.482000	0.81143	2.250000	0.74265	0.454000	0.30748	GTT		0.478	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606	
FAM13A	10144	broad.mit.edu	37	4	89859247	89859247	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:89859247T>C	ENST00000264344.5	-	5	958	c.751A>G	c.(751-753)Ata>Gta	p.I251V	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Missense_Mutation_p.I42V|FAM13A_ENST00000509094.1_Missense_Mutation_p.I251V	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	251					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.I251V(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						ACTTTTACTATGATAAGCCTA	0.284																																					p.I251V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A751G	4						.						88.0	87.0	87.0					4																	89859247		2203	4300	6503	90078270	SO:0001583	missense	10144	exon5			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.751A>G	4.37:g.89859247T>C	ENSP00000264344:p.Ile251Val		90078270	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264242	0.23136	.	.	ENSG00000138640	ENST00000264344;ENST00000511976;ENST00000509094	T;T;T	0.28895	2.32;1.59;2.14	4.03	-3.3	0.05003	.	0.945041	0.08860	N	0.883125	T	0.14313	0.0346	N	0.22421	0.69	0.27636	N	0.947864	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28038	-1.0056	10	0.30078	T	0.28	.	0.5676	0.00690	0.3724:0.1636:0.1266:0.3374	.	42;251	E9PGM7;O94988	.;FA13A_HUMAN	V	251;42;251	ENSP00000264344:I251V;ENSP00000421914:I42V;ENSP00000426517:I251V	ENSP00000264344:I251V	I	-	1	0	FAM13A	90078270	0.044000	0.20184	0.285000	0.24819	0.994000	0.84299	-0.945000	0.03909	-0.574000	0.05990	0.528000	0.53228	ATA		0.284	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
CCSER1	401145	broad.mit.edu	37	4	91229870	91229870	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:91229870G>T	ENST00000509176.1	+	2	723	c.435G>T	c.(433-435)aaG>aaT	p.K145N	CCSER1_ENST00000432775.2_Missense_Mutation_p.K145N|CCSER1_ENST00000333691.8_Missense_Mutation_p.K145N	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	145								p.K145N(1)									CAACTAACAAGAATGTCTTTA	0.378																																					p.K145N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	4						.						52.0	51.0	51.0					4																	91229870		1826	4082	5908	91448893	SO:0001583	missense	401145	exon2				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.435G>T	4.37:g.91229870G>T	ENSP00000425040:p.Lys145Asn		91448893	NM_001145065	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017786	0.54576	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.53206	1.15;0.63;1.15	5.18	5.18	0.71444	.	0.057621	0.64402	D	0.000003	T	0.55970	0.1954	L	0.33485	1.01	0.34045	D	0.655447	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.71870	0.943;0.975;0.964	T	0.66638	-0.5873	10	0.87932	D	0	-23.6471	12.6532	0.56774	0.1194:0.0:0.8806:0.0	.	145;145;145	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	N	145	ENSP00000425040:K145N;ENSP00000389283:K145N;ENSP00000329482:K145N	ENSP00000329482:K145N	K	+	3	2	FAM190A	91448893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.047000	0.49854	2.793000	0.96121	0.655000	0.94253	AAG		0.378	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
SMARCAD1	56916	broad.mit.edu	37	4	95199798	95199798	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:95199798G>A	ENST00000354268.4	+	18	2283	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.R307Q|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R737Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	737					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.R737Q(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)		AAGAAAGATCGAATTGAGTTG	0.338																																					p.R737Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2210A	4						.						90.0	97.0	95.0					4																	95199798		2198	4300	6498	95418821	SO:0001583	missense	56916	exon18			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.2210G>A	4.37:g.95199798G>A	ENSP00000346217:p.Arg737Gln		95418821	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	3.763	-0.049167	0.07407	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.55	-9.99	0.00435	SNF2-related (1);	1.372300	0.05135	N	0.493304	T	0.79930	0.4531	N	0.05078	-0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.65685	-0.6108	10	0.23302	T	0.38	1.7678	14.3145	0.66440	0.2865:0.0:0.6031:0.1104	.	737;737	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Q	737;737;737;307	ENSP00000351947:R737Q;ENSP00000415576:R737Q;ENSP00000346217:R737Q;ENSP00000423286:R307Q	ENSP00000346217:R737Q	R	+	2	0	SMARCAD1	95418821	0.000000	0.05858	0.005000	0.12908	0.129000	0.20672	0.145000	0.16157	-1.752000	0.01325	-1.223000	0.01593	CGA		0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
BMPR1B	658	broad.mit.edu	37	4	96069973	96069973	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:96069973A>G	ENST00000515059.1	+	11	1434	c.1151A>G	c.(1150-1152)gAc>gGc	p.D384G	BMPR1B_ENST00000264568.4_Missense_Mutation_p.D384G|BMPR1B_ENST00000394931.1_Missense_Mutation_p.D384G|BMPR1B_ENST00000440890.2_Missense_Mutation_p.D414G	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	384	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.D384G(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		GAAGTGTTGGACGAGAGCTTG	0.428																																					p.D384G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1151G	4						.						187.0	162.0	171.0					4																	96069973		2203	4300	6503	96288996	SO:0001583	missense	658	exon11			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1151A>G	4.37:g.96069973A>G	ENSP00000426617:p.Asp384Gly		96288996	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939887	0.73557	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050345	0.85682	D	0.000000	T	0.62502	0.2433	N	0.20357	0.565	0.80722	D	1	D	0.55605	0.972	P	0.55615	0.78	T	0.67998	-0.5525	10	0.87932	D	0	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	384	O00238	BMR1B_HUMAN	G	384;384;384;414;384;384	ENSP00000426617:D384G;ENSP00000425444:D384G;ENSP00000421671:D384G;ENSP00000401907:D414G;ENSP00000264568:D384G;ENSP00000378389:D384G	ENSP00000264568:D384G	D	+	2	0	BMPR1B	96288996	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.139000	0.94554	2.371000	0.80710	0.533000	0.62120	GAC		0.428	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
UNC5C	8633	broad.mit.edu	37	4	96106245	96106245	+	Missense_Mutation	SNP	C	C	T	rs139502011	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:96106245C>T	ENST00000453304.1	-	13	2587	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	747					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.D747N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCGATATCGTGAATTGAC	0.463													C|||	3	0.000599042	0.0	0.0	5008	,	,		16094	0.0		0.002	False		,,,				2504	0.001				p.D747N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2239A	4						.	C	ASN/ASP	0,4406		0,0,2203	120.0	121.0	120.0		2239	5.9	0.3	4	dbSNP_134	120	11,8589	8.4+/-32.0	0,11,4289	yes	missense	UNC5C	NM_003728.3	23	0,11,6492	TT,TC,CC		0.1279,0.0,0.0846	benign	747/932	96106245	11,12995	2203	4300	6503	96325268	SO:0001583	missense	8633	exon13			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2239G>A	4.37:g.96106245C>T	ENSP00000406022:p.Asp747Asn		96325268	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	35	5.543036	0.96474	0.0	0.001279	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.53857	0.6	5.87	5.87	0.94306	.	0.048289	0.85682	D	0.000000	T	0.76990	0.4065	M	0.85859	2.78	0.80722	D	1	D;D	0.65815	0.971;0.995	P;D	0.69142	0.539;0.962	T	0.79356	-0.1837	10	0.87932	D	0	.	20.2788	0.98501	0.0:1.0:0.0:0.0	.	747;747	A8K385;O95185	.;UNC5C_HUMAN	N	747;706	ENSP00000406022:D747N	ENSP00000328673:D706N	D	-	1	0	UNC5C	96325268	1.000000	0.71417	0.293000	0.24932	0.802000	0.45316	7.745000	0.85046	2.788000	0.95919	0.650000	0.86243	GAT		0.463	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
PDHA2	5161	broad.mit.edu	37	4	96762095	96762095	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:96762095A>C	ENST00000295266.4	+	1	857	c.794A>C	c.(793-795)aAa>aCa	p.K265T		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	265					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.K265T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GAGGCAACAAAATTTGCAGCT	0.483																																					p.K265T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A794C	4						.						144.0	144.0	144.0					4																	96762095		2203	4300	6503	96981118	SO:0001583	missense	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.794A>C	4.37:g.96762095A>C	ENSP00000295266:p.Lys265Thr		96981118	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788899	0.49997	.	.	ENSG00000163114	ENST00000295266	D	0.97256	-4.31	4.91	1.22	0.21188	Dehydrogenase, E1 component (1);	0.156795	0.56097	D	0.000033	D	0.96119	0.8735	L	0.58428	1.81	0.40830	D	0.983583	P	0.50528	0.936	P	0.52710	0.707	D	0.93975	0.7253	10	0.72032	D	0.01	-12.2262	7.567	0.27885	0.7642:0.0:0.2358:0.0	.	265	P29803	ODPAT_HUMAN	T	265	ENSP00000295266:K265T	ENSP00000295266:K265T	K	+	2	0	PDHA2	96981118	0.997000	0.39634	0.034000	0.17996	0.567000	0.35839	2.709000	0.47160	0.135000	0.18707	0.383000	0.25322	AAA		0.483	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
STPG2	285555	broad.mit.edu	37	4	99055575	99055575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:99055575C>A	ENST00000295268.3	-	2	234	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	49								p.E49*(1)									AAAGTACTTTCTCTGGCAGTC	0.358																																					p.E49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G145T	4						.						96.0	98.0	97.0					4																	99055575		2203	4299	6502	99274598	SO:0001587	stop_gained	285555	exon2			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.145G>T	4.37:g.99055575C>A	ENSP00000295268:p.Glu49*		99274598	NM_174952		Nonsense_Mutation	SNP	ENST00000295268.3	37	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417323	0.83449	.	.	ENSG00000163116	ENST00000295268	.	.	.	5.38	2.66	0.31614	.	0.516613	0.19035	N	0.124446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.3708	6.3034	0.21125	0.0:0.6783:0.1514:0.1704	.	.	.	.	X	49	.	ENSP00000295268:E49X	E	-	1	0	C4orf37	99274598	0.297000	0.24408	0.322000	0.25334	0.385000	0.30292	0.080000	0.14802	0.311000	0.23014	-0.182000	0.12963	GAA		0.358	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952	
RAP1GDS1	5910	broad.mit.edu	37	4	99264294	99264294	+	Silent	SNP	G	G	A	rs376264971		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:99264294G>A	ENST00000408927.3	+	3	230	c.117G>A	c.(115-117)acG>acA	p.T39T	RAP1GDS1_ENST00000380158.4_Silent_p.T40T|RAP1GDS1_ENST00000339360.5_Silent_p.T40T|RAP1GDS1_ENST00000264572.7_Silent_p.T40T|RAP1GDS1_ENST00000453712.2_Silent_p.T40T|RAP1GDS1_ENST00000408900.3_Silent_p.T39T|RAP1GDS1_ENST00000512857.1_3'UTR	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	39					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.T40T(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)		TTTTAGATACGGAAACAAGTG	0.363			T	NUP98	T-ALL																																p.T40T			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	4						.	G	,,,,,	2,3660		0,2,1829	65.0	65.0	65.0		120,117,120,117,120,120	0.0	0.2	4		65	0,8156		0,0,4078	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAP1GDS1	NM_001100426.1,NM_001100427.1,NM_001100428.1,NM_001100429.1,NM_001100430.1,NM_021159.4	,,,,,	0,2,5907	AA,AG,GG		0.0,0.0546,0.0169	,,,,,	40/609,39/608,40/560,39/559,40/517,40/608	99264294	2,11816	1831	4078	5909	99483317	SO:0001819	synonymous_variant	5910	exon3				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.117G>A	4.37:g.99264294G>A			99483317	NM_001100428	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	CCDS43253.1																																																																																				0.363	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426	
PRIMPOL	201973	broad.mit.edu	37	4	185616539	185616539	+	IGR	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr4:185616539A>C	ENST00000314970.6	+	0	2289				MLF1IP_ENST00000281453.5_Missense_Mutation_p.L387R|MLF1IP_ENST00000506535.1_5'Flank	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)						mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.L387R(1)									CAGAGCTGGAAGGCTGGATGA	0.378																																					p.L387R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1160G	4						.						106.0	116.0	113.0					4																	185616539		2203	4300	6503	185853533	SO:0001628	intergenic_variant	79682	exon13			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495		4.37:g.185616539A>C			185853533	NM_024629	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983159	0.74474	.	.	ENSG00000151725	ENST00000281453	T	0.35236	1.32	6.02	6.02	0.97574	.	0.112774	0.40144	N	0.001179	T	0.61299	0.2336	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65038	-0.6265	10	0.87932	D	0	-16.7233	15.1131	0.72375	1.0:0.0:0.0:0.0	.	387	Q71F23	CENPU_HUMAN	R	387	ENSP00000281453:L387R	ENSP00000281453:L387R	L	-	2	0	MLF1IP	185853533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.710000	0.68392	2.304000	0.77564	0.528000	0.53228	CTT		0.378	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683	
XKRX	402415	broad.mit.edu	37	X	100169474	100169474	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:100169474G>T	ENST00000372956.2	-	3	1807	c.1203C>A	c.(1201-1203)ttC>ttA	p.F401L	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Missense_Mutation_p.F414L			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	401						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F414L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AGTACTGGAAGAAAAGGAGCA	0.448																																					p.F401L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1203A	X						.						181.0	149.0	160.0					X																	100169474		2203	4300	6503	100056130	SO:0001583	missense	402415	exon3			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1203C>A	X.37:g.100169474G>T	ENSP00000362047:p.Phe401Leu		100056130	NM_212559	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614201	0.66672	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.68025	-0.3;-0.3	5.74	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.74647	2.275	0.53005	D	0.99996	D	0.76494	0.999	D	0.83275	0.996	T	0.78617	-0.2134	10	0.87932	D	0	-20.0011	9.5211	0.39135	0.2239:0.0:0.7761:0.0	.	401	Q6PP77	XKR2_HUMAN	L	414;401	ENSP00000327570:F414L;ENSP00000362047:F401L	ENSP00000327570:F414L	F	-	3	2	XKRX	100056130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.197000	0.32211	0.561000	0.29186	0.538000	0.68166	TTC		0.448	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559	
DRP2	1821	broad.mit.edu	37	X	100497323	100497323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:100497323G>T	ENST00000395209.3	+	8	1365	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	DRP2_ENST00000402866.1_Nonsense_Mutation_p.E280*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.E280*|DRP2_ENST00000541709.1_Nonsense_Mutation_p.E202*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	280					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.E277*(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						GCTGTTCAAAGAAGAATTCTC	0.478																																					p.E280X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G838T	X						.						200.0	196.0	197.0					X																	100497323		2203	4300	6503	100383979	SO:0001587	stop_gained	1821	exon8			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.838G>T	X.37:g.100497323G>T	ENSP00000378635:p.Glu280*		100383979	NM_001939	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Nonsense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	38	7.236830	0.98154	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.591	18.3989	0.90509	0.0:0.0:1.0:0.0	.	.	.	.	X	280;280;202;280	.	ENSP00000362007:E280X	E	+	1	0	DRP2	100383979	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.285000	0.76669	0.594000	0.82650	GAA		0.478	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
WWC3	55841	broad.mit.edu	37	X	10085339	10085339	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:10085339G>A	ENST00000380861.4	+	11	1631	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	WWC3_ENST00000454666.1_Missense_Mutation_p.D414N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	414	Ser-rich.				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.D414N(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCTACGCTTCGACCTCATTCC	0.657																																					p.D414N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	X						.						75.0	72.0	73.0					X																	10085339		2203	4300	6503	10045339	SO:0001583	missense	55841	exon11			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.1240G>A	X.37:g.10085339G>A	ENSP00000370242:p.Asp414Asn		10045339	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	7.621	0.676917	0.14841	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.05139	3.49;3.49	5.43	4.53	0.55603	.	0.281377	0.39475	N	0.001357	T	0.19805	0.0476	M	0.75264	2.295	0.31783	N	0.630623	D	0.69078	0.997	P	0.59012	0.85	T	0.15407	-1.0438	10	0.26408	T	0.33	-7.3742	15.2219	0.73316	0.0:0.1378:0.8622:0.0	.	414	Q9ULE0	WWC3_HUMAN	N	414;414;78;414	ENSP00000370242:D414N;ENSP00000399584:D414N	ENSP00000370242:D414N	D	+	1	0	WWC3	10045339	1.000000	0.71417	0.401000	0.26359	0.287000	0.27160	5.148000	0.64857	1.045000	0.40225	0.464000	0.42555	GAC		0.657	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
TAF7L	54457	broad.mit.edu	37	X	100534008	100534008	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:100534008C>A	ENST00000372907.3	-	7	747	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	TAF7L_ENST00000356784.1_Nonsense_Mutation_p.E160*|TAF7L_ENST00000372905.2_Nonsense_Mutation_p.E160*|TAF7L_ENST00000324762.6_Nonsense_Mutation_p.E160*	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	246					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.E246*(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTTCCATTTCTTTGACATCA	0.284																																					p.E160X	Ovarian(104;431 1530 3210 15406 18594)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G478T	X						.						107.0	108.0	107.0					X																	100534008		2202	4296	6498	100420664	SO:0001587	stop_gained	54457	exon7			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.736G>T	X.37:g.100534008C>A	ENSP00000361998:p.Glu246*		100420664	NM_001168474	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Nonsense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793485	0.70452	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	.	.	.	3.99	-3.03	0.05429	.	1.795170	0.03127	N	0.164591	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.0667	6.719	0.23321	0.0976:0.6135:0.1728:0.1161	.	.	.	.	X	246;160;160;160	.	ENSP00000320283:E160X	E	-	1	0	TAF7L	100420664	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.302000	0.08221	-0.910000	0.03847	-1.342000	0.01247	GAA		0.284	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		
GPRASP1	9737	broad.mit.edu	37	X	101912765	101912765	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:101912765C>A	ENST00000361600.5	+	5	4725	c.3924C>A	c.(3922-3924)ttC>ttA	p.F1308L	GPRASP1_ENST00000415986.1_Missense_Mutation_p.F1308L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.F1308L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.F1308L	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1308	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.F1308L(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						AAAATCTTTTCATGACAAAAG	0.348																																					p.F1308L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3924A	X						.						61.0	59.0	60.0					X																	101912765		2203	4300	6503	101799421	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.3924C>A	X.37:g.101912765C>A	ENSP00000355146:p.Phe1308Leu		101799421	NM_001099411	O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.376478	0.01214	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	2.9	-0.0792	0.13711	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.33369	-0.9871	9	0.19590	T	0.45	-0.5056	5.3102	0.15825	0.3081:0.5716:0.0:0.1203	.	1308	Q5JY77	GASP1_HUMAN	L	1308	ENSP00000393691:F1308L;ENSP00000409420:F1308L;ENSP00000355146:F1308L;ENSP00000445683:F1308L	ENSP00000355146:F1308L	F	+	3	2	GPRASP1	101799421	0.001000	0.12720	0.040000	0.18447	0.315000	0.28087	-0.812000	0.04496	-0.468000	0.06922	-2.259000	0.00280	TTC		0.348	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710	
TMEM31	203562	broad.mit.edu	37	X	102968540	102968540	+	Nonsense_Mutation	SNP	C	C	T	rs199835307		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:102968540C>T	ENST00000319560.6	+	3	312	c.121C>T	c.(121-123)Cga>Tga	p.R41*	GLRA4_ENST00000372617.4_Missense_Mutation_p.A331T	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	41						integral component of membrane (GO:0016021)		p.R41*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						AGCAAGGCAGCGAACACAAAG	0.483													C|||	1	0.000264901	0.0	0.0	3775	,	,		14622	0.0		0.001	False		,,,				2504	0.0				p.R41X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C121T	X						.						152.0	117.0	128.0					X																	102968540		2203	4300	6503	102855196	SO:0001587	stop_gained	203562	exon3			BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.121C>T	X.37:g.102968540C>T	ENSP00000316940:p.Arg41*		102855196	NM_182541	Q8NHR4	Nonsense_Mutation	SNP	ENST00000319560.6	37	CCDS35359.1	1|1	6.027727546714888E-4|6.027727546714888E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	37|37	6.076671|6.076671	0.97262|0.97262	.|.	.|.	ENSG00000188828|ENSG00000179363	ENST00000372617|ENST00000319560	D|.	0.84660|.	-1.88|.	5.5|5.5	3.71|3.71	0.42584|0.42584	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.052982|.	0.85682|.	D|.	0.000000|.	T|.	0.29321|.	0.0730|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|.	0.34977|.	0.478|.	B|.	0.38106|.	0.265|.	T|.	0.12941|.	-1.0528|.	9|.	0.44086|0.02654	T|T	0.13|1	0.0062|0.0062	7.9431|7.9431	0.29969|0.29969	0.3242:0.5217:0.1541:0.0|0.3242:0.5217:0.1541:0.0	.|.	331|.	Q5JXX5|.	GLRA4_HUMAN|.	T|X	331|41	ENSP00000361700:A331T|.	ENSP00000361700:A331T|ENSP00000316940:R41X	A|R	-|+	1|1	0|2	GLRA4|TMEM31	102855196|102855196	0.994000|0.994000	0.37717|0.37717	0.497000|0.497000	0.27552|0.27552	0.939000|0.939000	0.58152|0.58152	3.137000|3.137000	0.50562|0.50562	0.493000|0.493000	0.27837|0.27837	0.523000|0.523000	0.50628|0.50628	GCT|CGA		0.483	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1	NM_182541	
PLP1	5354	broad.mit.edu	37	X	103040659	103040659	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:103040659C>A	ENST00000303958.2	+	2	299	c.153C>A	c.(151-153)ttC>ttA	p.F51L	PLP1_ENST00000361621.2_Missense_Mutation_p.F51L|PLP1_ENST00000418604.1_Missense_Mutation_p.F51L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	51			F -> S (in HLD1). {ECO:0000269|PubMed:11093273}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.F51L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCTATTTCTCCAAAAACT	0.478																																					p.F51L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C153A	X						.						190.0	170.0	177.0					X																	103040659		2203	4300	6503	102927315	SO:0001583	missense	5354	exon2			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.153C>A	X.37:g.103040659C>A	ENSP00000305152:p.Phe51Leu		102927315	NM_199478	P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857759	0.71834	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99515	-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06;-6.06	5.58	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.78049	2.395	0.49687	D	0.999817	D;D;P	0.63046	0.979;0.992;0.927	D;D;P	0.76071	0.973;0.987;0.801	D	0.98931	1.0787	10	0.59425	D	0.04	-5.5143	7.5371	0.27717	0.0:0.7924:0.0:0.2076	.	51;51;51	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	51	ENSP00000403335:F51L;ENSP00000399913:F51L;ENSP00000409802:F51L;ENSP00000413931:F51L;ENSP00000393391:F51L;ENSP00000405750:F51L;ENSP00000391853:F51L;ENSP00000305152:F51L;ENSP00000354860:F51L	ENSP00000305152:F51L	F	+	3	2	PLP1	102927315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.493000	0.45320	2.337000	0.79520	0.600000	0.82982	TTC		0.478	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		
ESX1	80712	broad.mit.edu	37	X	103498876	103498876	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:103498876C>A	ENST00000372588.4	-	2	548	c.465G>T	c.(463-465)gaG>gaT	p.E155D		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	155					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.E155D(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CGAAAAAGTTCTCTAGCTCCT	0.622																																					p.E155D	Pancreas(200;1705 2227 25194 28471 45274)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	X						.						51.0	51.0	51.0					X																	103498876		2203	4298	6501	103385532	SO:0001583	missense	80712	exon2			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.465G>T	X.37:g.103498876C>A	ENSP00000361669:p.Glu155Asp		103385532	NM_153448	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.072116	0.76415	.	.	ENSG00000123576	ENST00000372588	D	0.97791	-4.54	4.48	1.77	0.24775	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	.	.	.	.	D	0.98570	0.9522	M	0.90870	3.155	0.09310	N	0.999999	D	0.76494	0.999	D	0.91635	0.999	D	0.93791	0.7092	9	0.62326	D	0.03	-26.7401	5.8601	0.18743	0.0:0.6563:0.0:0.3437	.	155	Q8N693	ESX1_HUMAN	D	155	ENSP00000361669:E155D	ENSP00000361669:E155D	E	-	3	2	ESX1	103385532	0.174000	0.23070	0.039000	0.18376	0.451000	0.32288	0.285000	0.18883	0.250000	0.21479	0.534000	0.68092	GAG		0.622	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
NRK	203447	broad.mit.edu	37	X	105167182	105167182	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:105167182G>A	ENST00000243300.9	+	18	2986	c.2683G>A	c.(2683-2685)Gca>Aca	p.A895T	NRK_ENST00000428173.2_Missense_Mutation_p.A896T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	895					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.A896T(1)		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						AGGCTATAATGCACTCTCTGA	0.433										HNSCC(51;0.14)																											p.A895T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2683A	X						.						113.0	104.0	107.0					X																	105167182		1932	4121	6053	105053838	SO:0001583	missense	203447	exon18			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.2683G>A	X.37:g.105167182G>A	ENSP00000434830:p.Ala895Thr		105053838	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	14.42	2.531436	0.45073	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78707	-1.19;-1.2	3.58	1.71	0.24356	.	0.432093	0.17111	N	0.186605	T	0.62024	0.2394	N	0.24115	0.695	0.80722	D	1	P;B	0.40180	0.705;0.437	B;B	0.40864	0.342;0.098	T	0.53613	-0.8414	10	0.39692	T	0.17	.	5.5303	0.16980	0.0:0.2174:0.5549:0.2278	.	563;895	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	895;896	ENSP00000434830:A895T;ENSP00000438378:A896T	ENSP00000434830:A895T	A	+	1	0	NRK	105053838	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.449000	0.35123	0.311000	0.23014	0.597000	0.82753	GCA		0.433	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
NRK	203447	broad.mit.edu	37	X	105190453	105190453	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:105190453G>T	ENST00000243300.9	+	26	4653	c.4350G>T	c.(4348-4350)aaG>aaT	p.K1450N	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.K1451N	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1450	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				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.K1450N(1)|p.K1451N(1)		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						CCCTGCCAAAGAATGTAAGAT	0.353										HNSCC(51;0.14)																											p.K1450N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4350T	X						.						110.0	98.0	102.0					X																	105190453		1861	4083	5944	105077109	SO:0001583	missense	203447	exon26			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.4350G>T	X.37:g.105190453G>T	ENSP00000434830:p.Lys1450Asn		105077109	NM_198465	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	G	0.079	-1.187229	0.01620	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04502	3.61;3.61	5.98	3.62	0.41486	Citron-like (2);	0.645901	0.14530	N	0.313937	T	0.01835	0.0058	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35674	-0.9779	10	0.06625	T	0.88	.	1.4948	0.02464	0.2842:0.0854:0.1434:0.4871	.	1450	Q7Z2Y5	NRK_HUMAN	N	1450;1451	ENSP00000434830:K1450N;ENSP00000438378:K1451N	ENSP00000434830:K1450N	K	+	3	2	NRK	105077109	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	1.316000	0.33620	0.852000	0.35287	-0.327000	0.08410	AAG		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
SERPINA7	6906	broad.mit.edu	37	X	105280447	105280447	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:105280447C>A	ENST00000327674.4	-	1	938	c.603G>T	c.(601-603)gtG>gtT	p.V201V	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Silent_p.V201V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	201					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V201V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAATATAGTTCACTAAGACCA	0.433																																					p.V201V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603T	X						.						132.0	120.0	124.0					X																	105280447		2203	4300	6503	105167103	SO:0001819	synonymous_variant	6906	exon2			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.603G>T	X.37:g.105280447C>A			105167103	NM_000354	D3DUX1	Silent	SNP	ENST00000327674.4	37	CCDS14518.1																																																																																				0.433	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354	
CLDN2	9075	broad.mit.edu	37	X	106171673	106171673	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:106171673G>A	ENST00000541806.1	+	2	734	c.215G>A	c.(214-216)gGc>gAc	p.G72D	CLDN2_ENST00000336803.1_Missense_Mutation_p.G72D|CLDN2_ENST00000540876.1_Missense_Mutation_p.G72D	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	72					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.G72D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACCCTTCTGGGCCTGCCCGCT	0.567																																					p.G72D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G215A	X						.						111.0	91.0	98.0					X																	106171673		2203	4300	6503	106058329	SO:0001583	missense	9075	exon2			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.215G>A	X.37:g.106171673G>A	ENSP00000441283:p.Gly72Asp		106058329	NM_020384	B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774710	0.70107	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.88201	-2.35;-2.35;-2.35	5.46	5.46	0.80206	.	0.152598	0.56097	D	0.000028	D	0.90683	0.7077	L	0.41710	1.295	0.52501	D	0.999958	D	0.63046	0.992	P	0.60117	0.869	D	0.91099	0.4913	10	0.52906	T	0.07	.	15.6452	0.77042	0.0:0.0:1.0:0.0	.	72	P57739	CLD2_HUMAN	D	72	ENSP00000441283:G72D;ENSP00000443230:G72D;ENSP00000336571:G72D	ENSP00000336571:G72D	G	+	2	0	CLDN2	106058329	1.000000	0.71417	0.935000	0.37517	0.977000	0.68977	2.774000	0.47694	2.291000	0.77112	0.523000	0.50628	GGC		0.567	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1		
GUCY2F	2986	broad.mit.edu	37	X	108673541	108673541	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:108673541C>T	ENST00000218006.2	-	8	2077	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	596	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.E596K(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CATACCATTTCGAACACATCA	0.383																																					p.E596K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1786A	X						.						193.0	193.0	193.0					X																	108673541		2203	4300	6503	108560197	SO:0001583	missense	2986	exon8			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.1786G>A	X.37:g.108673541C>T	ENSP00000218006:p.Glu596Lys		108560197	NM_001522	Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	6.611	0.481156	0.12581	.	.	ENSG00000101890	ENST00000218006	D	0.81996	-1.56	4.43	3.56	0.40772	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.167790	0.50627	N	0.000114	T	0.59689	0.2212	N	0.05619	-0.005	0.50632	D	0.999882	B	0.06786	0.001	B	0.04013	0.001	T	0.53330	-0.8454	10	0.02654	T	1	.	7.7475	0.28877	0.0:0.8762:0.0:0.1238	.	596	P51841	GUC2F_HUMAN	K	596	ENSP00000218006:E596K	ENSP00000218006:E596K	E	-	1	0	GUCY2F	108560197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.545000	0.36169	0.951000	0.37770	0.600000	0.82982	GAA		0.383	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
CHRDL1	91851	broad.mit.edu	37	X	109924837	109924837	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:109924837G>T	ENST00000372045.1	-	10	1136	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	CHRDL1_ENST00000218054.4_Missense_Mutation_p.F341L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.F343L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.F342L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.F263L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.F341L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.F262L			Q9BU40	CRDL1_HUMAN	chordin-like 1	335					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.F341L(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CTTCCCCGCAGAAGTAGCCTT	0.443																																					p.F343L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1029A	X						.						153.0	125.0	135.0					X																	109924837		2203	4300	6503	109811493	SO:0001583	missense	91851	exon10			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.1005C>A	X.37:g.109924837G>T	ENSP00000361115:p.Phe335Leu		109811493	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	G	2.049	-0.418160	0.04766	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.28666	2.34;1.6;2.34;2.34;2.65;1.62;2.39	4.97	1.44	0.22558	.	0.343854	0.34777	N	0.003698	T	0.12817	0.0311	N	0.14661	0.345	0.35351	D	0.787354	P;B;B;B;B;B	0.41080	0.737;0.0;0.001;0.001;0.0;0.001	B;B;B;B;B;B	0.36922	0.236;0.001;0.001;0.001;0.001;0.001	T	0.20273	-1.0280	9	.	.	.	-15.406	3.773	0.08649	0.3192:0.0:0.4688:0.212	.	263;342;322;335;343;262	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	L	335;262;341;341;343;263;342	ENSP00000361115:F335L;ENSP00000389627:F262L;ENSP00000218054:F341L;ENSP00000378276:F341L;ENSP00000361112:F343L;ENSP00000418443:F263L;ENSP00000399739:F342L	.	F	-	3	2	CHRDL1	109811493	0.990000	0.36364	1.000000	0.80357	0.863000	0.49368	0.105000	0.15333	0.303000	0.22785	-0.512000	0.04463	TTC		0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000380736.1_Silent_p.S541S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.S744S(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTTGGATCCGCTTTTTAATG	0.303													G|||	1	0.000264901	0.0	0.0	3775	,	,		12406	0.0		0.0	False		,,,				2504	0.001				p.S541S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1623T	X						.						104.0	102.0	103.0					X																	11160378		2203	4300	6503	11070299	SO:0001819	synonymous_variant	395	exon12			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2232C>T	X.37:g.11160378G>A			11070299	NM_013423	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	CCDS14140.1																																																																																				0.303	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
ARHGAP6	395	broad.mit.edu	37	X	11162360	11162360	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:11162360T>G	ENST00000337414.4	-	11	2788	c.1916A>C	c.(1915-1917)gAc>gCc	p.D639A	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.D639A|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.D436A|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.D436A|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.D464A|ARHGAP6_ENST00000413512.3_3'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	639					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.D639A(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCAGCATGTCAGGGCTTCT	0.468											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D436A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1307C	X						.						63.0	66.0	65.0					X																	11162360		2203	4295	6498	11072281	SO:0001583	missense	395	exon11			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1916A>C	X.37:g.11162360T>G	ENSP00000338967:p.Asp639Ala	670	11072281	NM_013423	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625341	0.46840	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718	T;T;T;T;T;T	0.23147	1.94;1.98;1.98;1.98;1.92;1.94	5.51	5.51	0.81932	.	0.487586	0.18460	N	0.140558	T	0.25306	0.0615	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.19935	0.002;0.008;0.022;0.04	B;B;B;B	0.12837	0.001;0.004;0.008;0.008	T	0.06215	-1.0839	10	0.12766	T	0.61	.	14.7411	0.69455	0.0:0.0:0.0:1.0	.	436;639;639;639	O43182-5;O43182-2;O43182;A8KAL3	.;.;RHG06_HUMAN;.	A	464;436;436;639;475;639	ENSP00000438135:D464A;ENSP00000370112:D436A;ENSP00000302312:D436A;ENSP00000338967:D639A;ENSP00000370093:D475A;ENSP00000370094:D639A	ENSP00000302312:D436A	D	-	2	0	ARHGAP6	11072281	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.209000	0.58493	1.863000	0.54032	0.412000	0.27726	GAC		0.468	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
CHRDL1	91851	broad.mit.edu	37	X	110002960	110002960	+	Missense_Mutation	SNP	C	C	T	rs149609884		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:110002960C>T	ENST00000372045.1	-	4	343	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	CHRDL1_ENST00000218054.4_Missense_Mutation_p.R77Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77Q|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77Q			Q9BU40	CRDL1_HUMAN	chordin-like 1	71	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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.R77Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACATCTGACTCGGCTGCAAAG	0.443																																					p.R77Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G230A	X						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	160.0	138.0	145.0		230,230,230,230	5.4	1.0	X	dbSNP_134	145	1,6727		0,1,2427,1872	no	missense,missense,missense,missense	CHRDL1	NM_001143981.1,NM_001143982.1,NM_001143983.2,NM_145234.3	43,43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	77/459,77/458,77/379,77/457	110002960	1,10562	2203	4300	6503	109889616	SO:0001583	missense	91851	exon4			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.212G>A	X.37:g.110002960C>T	ENSP00000361115:p.Arg71Gln		109889616	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	C	25.4	4.633960	0.87660	0.0	1.49E-4	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.45	5.45	0.79879	von Willebrand factor, type C (4);	0.059052	0.64402	D	0.000003	T	0.81158	0.4764	L	0.56199	1.76	0.46954	D	0.999262	B;D;D;D;D;D;P	0.76494	0.415;0.999;0.999;0.998;0.999;0.999;0.879	B;D;D;D;D;D;P	0.80764	0.024;0.994;0.99;0.992;0.994;0.994;0.613	T	0.79564	-0.1751	9	.	.	.	-10.5114	17.5649	0.87917	0.0:1.0:0.0:0.0	.	77;77;71;56;71;77;77	B4DMP3;E9PGS5;Q9BU40-2;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;.;CRDL1_HUMAN;.;.	Q	71;77;77;77;77;77;77	ENSP00000361115:R71Q;ENSP00000389627:R77Q;ENSP00000218054:R77Q;ENSP00000378276:R77Q;ENSP00000361112:R77Q;ENSP00000418443:R77Q;ENSP00000399739:R77Q	.	R	-	2	0	CHRDL1	109889616	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.084000	0.64462	2.618000	0.88619	0.600000	0.82982	CGA		0.443	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
AGTR2	186	broad.mit.edu	37	X	115303997	115303997	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:115303997G>T	ENST00000371906.4	+	3	654	c.464G>T	c.(463-465)aGa>aTa	p.R155I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	155					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.R155I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TCTCAAAGAAGAAATCCCTGG	0.398																																					p.R155I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464T	X						.						187.0	174.0	178.0					X																	115303997		2203	4300	6503	115218025	SO:0001583	missense	186	exon3			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.464G>T	X.37:g.115303997G>T	ENSP00000360973:p.Arg155Ile		115218025	NM_000686	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702805	0.68501	.	.	ENSG00000180772	ENST00000371906	T	0.38722	1.12	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79274	-0.1871	10	0.72032	D	0.01	-7.0867	13.9669	0.64213	0.0:0.0:1.0:0.0	.	155	P50052	AGTR2_HUMAN	I	155	ENSP00000360973:R155I	ENSP00000360973:R155I	R	+	2	0	AGTR2	115218025	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.908000	0.92640	2.163000	0.67991	0.506000	0.49869	AGA		0.398	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
SLC6A14	11254	broad.mit.edu	37	X	115585563	115585563	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:115585563C>T	ENST00000371900.4	+	10	1447	c.1359C>T	c.(1357-1359)ggC>ggT	p.G453G		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	453					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.G453G(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)	TAACTTTGGGCTGCTGCTTGG	0.368																																					p.G453G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1359T	X						.						210.0	153.0	172.0					X																	115585563		2203	4300	6503	115499591	SO:0001819	synonymous_variant	11254	exon10			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.1359C>T	X.37:g.115585563C>T			115499591	NM_007231	Q5H942	Silent	SNP	ENST00000371900.4	37	CCDS14570.1																																																																																				0.368	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
KLHL13	90293	broad.mit.edu	37	X	117043380	117043380	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:117043380C>T	ENST00000262820.3	-	5	2159	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	KLHL13_ENST00000539496.1_Missense_Mutation_p.R420Q|KLHL13_ENST00000541812.1_Missense_Mutation_p.R401Q|KLHL13_ENST00000545703.1_Missense_Mutation_p.R375Q|KLHL13_ENST00000469946.1_Missense_Mutation_p.R366Q|KLHL13_ENST00000371882.1_Missense_Mutation_p.R366Q|KLHL13_ENST00000371876.1_Missense_Mutation_p.R366Q|KLHL13_ENST00000371878.1_Missense_Mutation_p.R366Q|KLHL13_ENST00000540167.1_Missense_Mutation_p.R401Q	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	417					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)		p.R417Q(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						TTTATTGTATCGAGGATCAAA	0.408																																					p.R411Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	X						.						87.0	72.0	77.0					X																	117043380		2203	4300	6503	116927408	SO:0001583	missense	90293	exon5			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.1250G>A	X.37:g.117043380C>T	ENSP00000262820:p.Arg417Gln		116927408	NM_001168300	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590136	0.86851	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	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	5.02	5.02	0.67125	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.83658	0.5302	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;0.987;0.991	P;D;P;P	0.97110	0.742;1.0;0.782;0.845	T	0.79072	-0.1953	10	0.12103	T	0.63	.	17.4247	0.87524	0.0:1.0:0.0:0.0	.	401;420;411;417	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	Q	366;366;366;366;401;401;420;417;375;366	ENSP00000360949:R366Q;ENSP00000360943:R366Q;ENSP00000360945:R366Q;ENSP00000412640:R366Q;ENSP00000444450:R401Q;ENSP00000441029:R401Q;ENSP00000443191:R420Q;ENSP00000262820:R417Q;ENSP00000440707:R375Q;ENSP00000419803:R366Q	ENSP00000262820:R417Q	R	-	2	0	KLHL13	116927408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.297000	0.77311	0.594000	0.82650	CGA		0.408	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
DOCK11	139818	broad.mit.edu	37	X	117777428	117777428	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:117777428T>G	ENST00000276202.7	+	40	4332	c.4269T>G	c.(4267-4269)ctT>ctG	p.L1423L	DOCK11_ENST00000276204.6_Silent_p.L1423L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1423					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1423L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCCAACTTTTAAATAATG	0.323																																					p.L1423L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4269G	X						.						123.0	131.0	129.0					X																	117777428		2203	4300	6503	117661456	SO:0001819	synonymous_variant	139818	exon40			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4269T>G	X.37:g.117777428T>G			117661456	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	CCDS35373.1																																																																																				0.323	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
KIAA1210	57481	broad.mit.edu	37	X	118238991	118238991	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:118238991C>A	ENST00000402510.2	-	7	1031	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	344								p.K344N(1)|p.K204N(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						GTAAAGCCTTCTTTTGTGGAT	0.428																																					p.K344N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1032T	X						.						158.0	151.0	153.0					X																	118238991		1905	4123	6028	118123019	SO:0001583	missense	57481	exon7			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.1032G>T	X.37:g.118238991C>A	ENSP00000384670:p.Lys344Asn		118123019	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627984	0.28978	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10960	2.82	4.55	1.74	0.24563	.	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	P	0.35844	0.524	B	0.35353	0.201	T	0.39210	-0.9625	9	0.31617	T	0.26	.	4.523	0.11968	0.0:0.5991:0.1814:0.2195	.	344	Q9ULL0	K1210_HUMAN	N	344;180	ENSP00000384670:K344N	ENSP00000396164:K180N	K	-	3	2	RP13-347D8.5;RP13-347D8.6	118123019	0.001000	0.12720	0.002000	0.10522	0.105000	0.19272	0.182000	0.16900	0.096000	0.17463	-0.315000	0.08773	AAG		0.428	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
KIAA1210	57481	broad.mit.edu	37	X	118284421	118284421	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:118284421G>A	ENST00000402510.2	-	1	121	c.122C>T	c.(121-123)gCg>gTg	p.A41V		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	41								p.A41V(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						TTGGGAATACGCTCGACTTCC	0.602																																					p.A41V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122T	X						.						45.0	49.0	48.0					X																	118284421		1989	4143	6132	118168449	SO:0001583	missense	57481	exon1			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.122C>T	X.37:g.118284421G>A	ENSP00000384670:p.Ala41Val		118168449	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570444	0.28003	.	.	ENSG00000250423	ENST00000402510	T	0.12672	2.66	3.43	-4.03	0.04021	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.11329	0.006	T	0.34775	-0.9815	9	0.87932	D	0	.	0.3813	0.00395	0.2209:0.2843:0.1925:0.3023	.	41	Q9ULL0	K1210_HUMAN	V	41	ENSP00000384670:A41V	ENSP00000384670:A41V	A	-	2	0	RP13-347D8.6	118168449	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.517000	0.02248	-1.234000	0.02548	0.600000	0.82982	GCG		0.602	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
UPF3B	65109	broad.mit.edu	37	X	118971941	118971941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:118971941G>A	ENST00000276201.2	-	10	1150	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Nonsense_Mutation_p.R348*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	361	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R361*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCTCTTTCTCGAAGTATGCGC	0.463																																					p.R361X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1081T	X						.						156.0	134.0	142.0					X																	118971941		2203	4300	6503	118855969	SO:0001587	stop_gained	65109	exon10			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1081C>T	X.37:g.118971941G>A	ENSP00000276201:p.Arg361*		118855969	NM_080632	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221315	0.95139	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.83	4.01	0.46588	.	0.266734	0.40728	N	0.001037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0023	0.24817	0.0813:0.0:0.4406:0.4781	.	.	.	.	X	361;348	.	ENSP00000276201:R361X	R	-	1	2	UPF3B	118855969	0.825000	0.29262	0.071000	0.20095	0.982000	0.71751	1.125000	0.31332	0.572000	0.29383	0.526000	0.51066	CGA		0.463	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
UPF3B	65109	broad.mit.edu	37	X	118972442	118972442	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:118972442C>A	ENST00000276201.2	-	9	964	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	UPF3B_ENST00000478840.1_5'UTR|UPF3B_ENST00000345865.2_Nonsense_Mutation_p.E286*	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	299	Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E299*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTGGCTTTTTCTCTTTTGTCC	0.368																																					p.E299X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G895T	X						.						196.0	171.0	179.0					X																	118972442		2203	4300	6503	118856470	SO:0001587	stop_gained	65109	exon9			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.895G>T	X.37:g.118972442C>A	ENSP00000276201:p.Glu299*		118856470	NM_080632	D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Nonsense_Mutation	SNP	ENST00000276201.2	37	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094927	0.94197	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	.	.	.	5.43	5.43	0.79202	.	0.435785	0.27906	N	0.017367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.9636	0.53021	0.1732:0.8268:0.0:0.0	.	.	.	.	X	299;286	.	ENSP00000276201:E299X	E	-	1	0	UPF3B	118856470	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.280000	0.51677	2.275000	0.75901	0.526000	0.51066	GAA		0.368	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1		
RNF113A	7737	broad.mit.edu	37	X	119005192	119005192	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:119005192C>T	ENST00000371442.2	-	1	599	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	129							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GCTTGTGCATCGCGCTCTTTC	0.522																																					p.D129N												.	.	0			c.G385A	X						.						276.0	260.0	266.0					X																	119005192		2203	4300	6503	118889220	SO:0001583	missense	7737	exon1			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.385G>A	X.37:g.119005192C>T	ENSP00000360497:p.Asp129Asn		118889220	NM_006978	B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294444	0.95546	.	.	ENSG00000125352	ENST00000371442	T	0.41758	0.99	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.77525	-0.2555	10	0.72032	D	0.01	-8.1801	15.7553	0.78018	0.0:1.0:0.0:0.0	.	129	O15541	R113A_HUMAN	N	129	ENSP00000360497:D129N	ENSP00000360497:D129N	D	-	1	0	RNF113A	118889220	1.000000	0.71417	0.828000	0.32881	0.968000	0.65278	5.747000	0.68689	2.318000	0.78349	0.600000	0.82982	GAT		0.522	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978	
TMEM255A	55026	broad.mit.edu	37	X	119394745	119394745	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:119394745G>A	ENST00000309720.5	-	10	1153	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	TMEM255A_ENST00000371352.1_Missense_Mutation_p.P180S|TMEM255A_ENST00000440464.1_Missense_Mutation_p.P236S|TMEM255A_ENST00000371369.4_Missense_Mutation_p.P320S	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	344	Pro-rich.					integral component of membrane (GO:0016021)		p.P344S(1)									TAAGGTGGTGGCTTTTCAAAA	0.488																																					p.P236S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	X						.						131.0	108.0	115.0					X																	119394745		2203	4300	6503	119278773	SO:0001583	missense	55026	exon7			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.1030C>T	X.37:g.119394745G>A	ENSP00000310110:p.Pro344Ser		119278773	NM_001104545	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889785	0.72524	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	M	0.77313	2.365	0.41821	D	0.990029	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.80652	-0.1287	10	0.87932	D	0	-6.6072	17.6499	0.88161	0.0:0.0:1.0:0.0	.	236;320;344	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	S	344;320;180;236	ENSP00000310110:P344S;ENSP00000360420:P320S;ENSP00000360403:P180S;ENSP00000405781:P236S	ENSP00000310110:P344S	P	-	1	0	FAM70A	119278773	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.370000	0.90120	2.471000	0.83476	0.600000	0.82982	CCA		0.488	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
TMEM255A	55026	broad.mit.edu	37	X	119438238	119438238	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:119438238T>A	ENST00000309720.5	-	2	290	c.167A>T	c.(166-168)aAt>aTt	p.N56I	TMEM255A_ENST00000440464.1_Missense_Mutation_p.N56I|TMEM255A_ENST00000371369.4_Missense_Mutation_p.N56I	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	56						integral component of membrane (GO:0016021)		p.N56I(2)									TACAGTCACATTCTGGGTCCT	0.478																																					p.N56I												.	.	2	Substitution - Missense(2)	large_intestine(1)|NS(1)	c.A167T	X						.						173.0	150.0	158.0					X																	119438238		2203	4300	6503	119322266	SO:0001583	missense	55026	exon2			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.167A>T	X.37:g.119438238T>A	ENSP00000310110:p.Asn56Ile		119322266	NM_001104545	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262665	0.80358	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.77509	-0.2561	10	0.87932	D	0	-11.1777	13.4024	0.60891	0.0:0.0:0.0:1.0	.	56;56;56	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	I	56	ENSP00000310110:N56I;ENSP00000360420:N56I;ENSP00000405781:N56I;ENSP00000428013:N56I	ENSP00000310110:N56I	N	-	2	0	FAM70A	119322266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.763000	0.68818	1.758000	0.51981	0.486000	0.48141	AAT		0.478	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
LAMP2	3920	broad.mit.edu	37	X	119581785	119581785	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:119581785G>T	ENST00000200639.4	-	5	788	c.652C>A	c.(652-654)Cca>Aca	p.P218T	LAMP2_ENST00000434600.2_Missense_Mutation_p.P218T|LAMP2_ENST00000540603.1_Missense_Mutation_p.P171T|LAMP2_ENST00000538785.1_Missense_Mutation_p.P107T|LAMP2_ENST00000371335.4_Missense_Mutation_p.P218T			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	218	Hinge.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.P218T(2)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CCAGCTTCTGGTTTTTCCTTT	0.448																																					p.P218T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C652A	X						.						264.0	226.0	239.0					X																	119581785		2203	4300	6503	119465813	SO:0001583	missense	3920	exon5			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.652C>A	X.37:g.119581785G>T	ENSP00000200639:p.Pro218Thr		119465813	NM_002294	A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789453	0.49997	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73458	0.3589	M	0.91090	3.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.79359	-0.1836	10	0.87932	D	0	-15.2412	18.3507	0.90337	0.0:0.0:1.0:0.0	.	171;107;218;218;218	B4E2S7;B7Z2R9;P13473-2;P13473;Q6Q3G8	.;.;.;LAMP2_HUMAN;.	T	218;107;218;218;171	ENSP00000408411:P218T;ENSP00000440506:P107T;ENSP00000200639:P218T;ENSP00000360386:P218T;ENSP00000440479:P171T	ENSP00000200639:P218T	P	-	1	0	LAMP2	119465813	1.000000	0.71417	0.103000	0.21229	0.037000	0.13140	5.783000	0.68982	2.559000	0.86315	0.597000	0.82753	CCA		0.448	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1		
STAG2	10735	broad.mit.edu	37	X	123164930	123164930	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:123164930C>T	ENST00000371160.1	+	5	533	c.243C>T	c.(241-243)aaC>aaT	p.N81N	STAG2_ENST00000371145.3_Silent_p.N81N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.N12N|STAG2_ENST00000218089.9_Silent_p.N81N|STAG2_ENST00000371157.3_Silent_p.N81N|STAG2_ENST00000371144.3_Silent_p.N81N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	81					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.N81N(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						GAGTGGAAAACATGATGTTGT	0.408																																					p.N81N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243T	X						.						255.0	206.0	222.0					X																	123164930		2203	4300	6503	122992611	SO:0001819	synonymous_variant	10735	exon5			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.243C>T	X.37:g.123164930C>T			122992611	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	CCDS14607.1																																																																																				0.408	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
FRMPD4	9758	broad.mit.edu	37	X	12720127	12720127	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:12720127C>T	ENST00000380682.1	+	10	1574	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	356	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I346I(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAATACATCGAGTAAGTGT	0.468											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I356I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1068T	X						.						124.0	103.0	110.0					X																	12720127		2203	4300	6503	12630048	SO:0001819	synonymous_variant	9758	exon10			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1068C>T	X.37:g.12720127C>T		682	12630048	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.468	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
TLR7	51284	broad.mit.edu	37	X	12904321	12904321	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:12904321C>A	ENST00000380659.3	+	3	833	c.694C>A	c.(694-696)Ctc>Atc	p.L232I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L232I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGAACTATATCTCTACAACAA	0.358																																					p.L232I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C694A	X						.						65.0	60.0	62.0					X																	12904321		2203	4300	6503	12814242	SO:0001583	missense	51284	exon3			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.694C>A	X.37:g.12904321C>A	ENSP00000370034:p.Leu232Ile		12814242	NM_016562	D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137093	0.37728	.	.	ENSG00000196664	ENST00000380659	T	0.06933	3.24	5.41	5.41	0.78517	.	0.080132	0.51477	D	0.000098	T	0.13841	0.0335	L	0.46567	1.45	0.46725	D	0.999177	P	0.50710	0.938	P	0.48770	0.589	T	0.00664	-1.1620	10	0.52906	T	0.07	.	13.944	0.64073	0.1616:0.8384:0.0:0.0	.	232	Q9NYK1	TLR7_HUMAN	I	232	ENSP00000370034:L232I	ENSP00000370034:L232I	L	+	1	0	TLR7	12814242	1.000000	0.71417	0.932000	0.37286	0.201000	0.24016	5.001000	0.63946	2.242000	0.73789	0.589000	0.80489	CTC		0.358	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
DCAF12L2	340578	broad.mit.edu	37	X	125298618	125298618	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:125298618C>T	ENST00000360028.2	-	1	1316	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	DCAF12L2_ENST00000538699.1_Silent_p.A430A			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430								p.A430A(3)		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						GGGTGTAGAGCGCATTGGGGA	0.597																																					p.A430A												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G1290A	X						.						117.0	118.0	118.0					X																	125298618		2203	4300	6503	125126299	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.1290G>A	X.37:g.125298618C>T			125126299	NM_001013628	B2RN42	Silent	SNP	ENST00000360028.2	37	CCDS43991.1																																																																																				0.597	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
SMARCA1	6594	broad.mit.edu	37	X	128615077	128615077	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:128615077C>T	ENST00000371122.4	-	18	2432	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R756H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R756H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	768					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTCGCTGACACGCAAAGCCTC	0.428																																					p.R768H												.	.	0			c.G2303A	X						.						160.0	115.0	131.0					X																	128615077		2203	4300	6503	128442758	SO:0001583	missense	6594	exon18			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2303G>A	X.37:g.128615077C>T	ENSP00000360163:p.Arg768His		128442758	NM_003069	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325479	0.95708	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91631	-2.88;-2.88;-2.87;-2.87	5.81	5.81	0.92471	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.64402	D	0.000005	D	0.96661	0.8910	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.979;0.988	D	0.96708	0.9523	10	0.56958	D	0.05	-8.23	18.9712	0.92715	0.0:1.0:0.0:0.0	.	747;768;756;768	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	756;756;768;747	ENSP00000360162:R756H;ENSP00000360164:R756H;ENSP00000360163:R768H;ENSP00000404275:R747H	ENSP00000360162:R756H	R	-	2	0	SMARCA1	128442758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.428000	0.82296	0.600000	0.82982	CGT		0.428	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
SMARCA1	6594	broad.mit.edu	37	X	128649957	128649957	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:128649957C>T	ENST00000371122.4	-	4	572	c.443G>A	c.(442-444)cGc>cAc	p.R148H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R148H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R148H|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	148					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R148H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTGCTCTGTGCGCCTATGGCG	0.368																																					p.R148H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	X						.						156.0	125.0	136.0					X																	128649957		2203	4300	6503	128477638	SO:0001583	missense	6594	exon4			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.443G>A	X.37:g.128649957C>T	ENSP00000360163:p.Arg148His		128477638	NM_003069	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101303	0.94245	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	D	0.95335	0.8486	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.61080	0.982;0.982;0.989;0.982	P;P;P;P	0.59288	0.635;0.72;0.855;0.72	D	0.95948	0.8952	10	0.87932	D	0	-4.2057	17.7766	0.88510	0.0:1.0:0.0:0.0	.	127;148;148;148	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	H	148;148;148;127	ENSP00000360162:R148H;ENSP00000360164:R148H;ENSP00000360163:R148H;ENSP00000404275:R127H	ENSP00000360162:R148H	R	-	2	0	SMARCA1	128477638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.047000	0.71038	2.129000	0.65627	0.544000	0.68410	CGC		0.368	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
OCRL	4952	broad.mit.edu	37	X	128709967	128709967	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:128709967C>T	ENST00000371113.4	+	17	1972	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	OCRL_ENST00000357121.5_Missense_Mutation_p.P603S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	603	ASH.				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.P603S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTTTCATCCCTAAACTTAA	0.453																																					p.P603S												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1807T	X						.						140.0	136.0	137.0					X																	128709967		2203	4300	6503	128537648	SO:0001583	missense	4952	exon17			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.1807C>T	X.37:g.128709967C>T	ENSP00000360154:p.Pro603Ser		128537648	NM_001587	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832250	0.50845	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94497	-3.44;-3.43	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	L	0.33668	1.02	0.80722	D	1	B;B	0.27853	0.191;0.005	B;B	0.17098	0.017;0.003	D	0.87332	0.2325	10	0.16896	T	0.51	.	17.6594	0.88188	0.0:1.0:0.0:0.0	.	603;603	Q01968-2;Q01968	.;OCRL_HUMAN	S	603	ENSP00000360154:P603S;ENSP00000349635:P603S	ENSP00000349635:P603S	P	+	1	0	OCRL	128537648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.759000	0.68785	2.388000	0.81334	0.600000	0.82982	CCT		0.453	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
XPNPEP2	7512	broad.mit.edu	37	X	128886229	128886229	+	Missense_Mutation	SNP	C	C	T	rs151254296		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:128886229C>T	ENST00000371106.3	+	10	1117	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	309						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.R309C(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGCCAAGTTCGTGACAGCAT	0.483													C|||	1	0.000264901	0.0	0.0014	3775	,	,		16086	0.0		0.0	False		,,,				2504	0.0				p.R309C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C925T	X						.	C	CYS/ARG	0,3835		0,0,0,1632,571	157.0	124.0	135.0		925	5.0	0.6	X	dbSNP_134	135	2,6725		0,1,1,2427,1870	yes	missense	XPNPEP2	NM_003399.5	180	0,1,1,4059,2441	TT,TC,T,CC,C		0.0297,0.0,0.0189	probably-damaging	309/675	128886229	2,10560	2203	4299	6502	128713910	SO:0001583	missense	7512	exon10			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.925C>T	X.37:g.128886229C>T	ENSP00000360147:p.Arg309Cys		128713910	NM_003399	A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122117	0.56613	0.0	2.97E-4	ENSG00000122121	ENST00000371106	T	0.74106	-0.81	5.89	5.03	0.67393	.	0.215747	0.49305	D	0.000146	T	0.75889	0.3911	L	0.56769	1.78	0.31008	N	0.719574	D	0.76494	0.999	P	0.53360	0.724	T	0.76200	-0.3046	10	0.38643	T	0.18	-17.2641	8.6409	0.33976	0.1511:0.7677:0.0:0.0812	.	309	O43895	XPP2_HUMAN	C	309	ENSP00000360147:R309C	ENSP00000360147:R309C	R	+	1	0	XPNPEP2	128713910	0.025000	0.19082	0.617000	0.29091	0.966000	0.64601	0.306000	0.19279	1.257000	0.44085	0.529000	0.55759	CGT		0.483	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
ELF4	2000	broad.mit.edu	37	X	129200947	129200947	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129200947T>C	ENST00000308167.5	-	9	2120	c.1741A>G	c.(1741-1743)Acc>Gcc	p.T581A	ELF4_ENST00000335997.7_Missense_Mutation_p.T581A	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.T581A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACCACCTGGGTTGGAAGTGGC	0.617			T	ERG	AML																																p.T581A			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1741G	X						.						91.0	95.0	94.0					X																	129200947		2203	4300	6503	129028628	SO:0001583	missense	2000	exon9			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1741A>G	X.37:g.129200947T>C	ENSP00000311280:p.Thr581Ala		129028628	NM_001421		Missense_Mutation	SNP	ENST00000308167.5	37	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	t	10.78	1.445863	0.25987	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.19938	2.11;2.11	4.52	2.11	0.27256	.	0.804528	0.10676	N	0.646944	T	0.11067	0.0270	N	0.19112	0.55	0.21256	N	0.999747	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	10	0.16896	T	0.51	.	4.4948	0.11831	0.0:0.2963:0.0:0.7037	.	581	Q99607	ELF4_HUMAN	A	581	ENSP00000338608:T581A;ENSP00000311280:T581A	ENSP00000311280:T581A	T	-	1	0	ELF4	129028628	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	0.703000	0.25646	0.596000	0.29794	0.414000	0.27820	ACC		0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
AIFM1	9131	broad.mit.edu	37	X	129273794	129273794	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129273794C>A	ENST00000287295.3	-	8	1064	c.834G>T	c.(832-834)aaG>aaT	p.K278N	AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000440263.1_5'Flank|AIFM1_ENST00000319908.3_Missense_Mutation_p.K274N|AIFM1_ENST00000535724.1_Missense_Mutation_p.K191N|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	278	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.K274N(1)|p.K278N(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)	TTGTTCTACTCTTCACCTCTG	0.448																																					p.K274N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G822T	X						.						183.0	156.0	165.0					X																	129273794		2203	4300	6503	129101475	SO:0001583	missense	9131	exon8			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.834G>T	X.37:g.129273794C>A	ENSP00000287295:p.Lys278Asn		129101475	NM_145812	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307269	0.40795	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	D;D;T	0.84146	-1.81;-1.79;-0.81	4.66	4.66	0.58398	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.263259	0.42821	D	0.000652	T	0.78123	0.4234	L	0.52364	1.645	0.50813	D	0.999892	P;B;B	0.37594	0.601;0.127;0.151	B;B;B	0.30251	0.113;0.069;0.072	T	0.77811	-0.2449	10	0.35671	T	0.21	-7.6674	11.8682	0.52505	0.1744:0.8255:0.0:0.0	.	278;274;278	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	N	274;191;278	ENSP00000315122:K274N;ENSP00000446113:K191N;ENSP00000287295:K278N	ENSP00000287295:K278N	K	-	3	2	AIFM1	129101475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.067000	0.30616	2.303000	0.77524	0.600000	0.82982	AAG		0.448	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
ZNF280C	55609	broad.mit.edu	37	X	129339306	129339306	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129339306C>T	ENST00000370978.4	-	17	2279	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	709					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.R709H(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATGAGTTTTACGTTGACTTAA	0.338																																					p.R709H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2126A	X						.						104.0	91.0	95.0					X																	129339306		2203	4300	6503	129166987	SO:0001583	missense	55609	exon17			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2126G>A	X.37:g.129339306C>T	ENSP00000360017:p.Arg709His		129166987	NM_017666	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175634	0.21704	.	.	ENSG00000056277	ENST00000370978	T	0.02579	4.24	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.03178	0.0093	L	0.38531	1.155	0.29887	N	0.825515	B	0.21821	0.061	B	0.17979	0.02	T	0.18272	-1.0342	9	0.22706	T	0.39	.	12.1794	0.54204	0.0:1.0:0.0:0.0	.	709	Q8ND82	Z280C_HUMAN	H	709	ENSP00000360017:R709H	ENSP00000360017:R709H	R	-	2	0	ZNF280C	129166987	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.803000	0.38863	1.805000	0.52779	0.292000	0.19580	CGT		0.338	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
ZNF280C	55609	broad.mit.edu	37	X	129361684	129361684	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129361684T>G	ENST00000370978.4	-	11	1373	c.1220A>C	c.(1219-1221)aAa>aCa	p.K407T		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	407					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.K407T(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTCACCAGGTTTATGGGTGTC	0.318																																					p.K407T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1220C	X						.						156.0	139.0	144.0					X																	129361684		2203	4298	6501	129189365	SO:0001583	missense	55609	exon11			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.1220A>C	X.37:g.129361684T>G	ENSP00000360017:p.Lys407Thr		129189365	NM_017666	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	t	21.0	4.077416	0.76528	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.27720	1.65;3.17	4.39	4.39	0.52855	.	.	.	.	.	T	0.33089	0.0851	N	0.05574	-0.02	0.40453	D	0.980169	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.39035	-0.9633	9	0.72032	D	0.01	.	10.7332	0.46109	0.0:0.0:0.0:1.0	.	407;407	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	T	407	ENSP00000360017:K407T;ENSP00000408521:K407T	ENSP00000066465:K407T	K	-	2	0	ZNF280C	129189365	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.822000	0.86651	1.732000	0.51606	0.427000	0.28365	AAA		0.318	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
ZNF280C	55609	broad.mit.edu	37	X	129380861	129380861	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129380861C>T	ENST00000370978.4	-	3	303	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	50					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.E50E(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AACTTGATATCTCTCCAACAA	0.358																																					p.E50E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	X						.						252.0	206.0	222.0					X																	129380861		2203	4300	6503	129208542	SO:0001819	synonymous_variant	55609	exon3			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.150G>A	X.37:g.129380861C>T			129208542	NM_017666	A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	CCDS14622.1																																																																																				0.358	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
ENOX2	10495	broad.mit.edu	37	X	129771326	129771326	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:129771326G>A	ENST00000370927.1	-	9	1296	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	ENOX2_ENST00000394363.1_Silent_p.L396L|ENOX2_ENST00000338144.3_Silent_p.L425L|ENOX2_ENST00000370935.1_Silent_p.L396L			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)	p.L425L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTAGGCATCGAGCTGCCAAC	0.433													G|||	5	0.0013245	0.0	0.0	3775	,	,		14142	0.0		0.0	False		,,,				2504	0.0051				p.L425L	Ovarian(101;828 1506 2951 9500 35258)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1275T	X						.						244.0	191.0	209.0					X																	129771326		2203	4300	6503	129599007	SO:0001819	synonymous_variant	10495	exon12			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1275C>T	X.37:g.129771326G>A			129599007	NM_182314	A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Silent	SNP	ENST00000370927.1	37	CCDS14626.1																																																																																				0.433	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
ARHGAP36	158763	broad.mit.edu	37	X	130218328	130218328	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:130218328C>T	ENST00000276211.5	+	5	1040	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A220V|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A96V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	232	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.A232V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AATCCGATTGCGAAACAAATC	0.468																																					p.A232V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	X						.						47.0	45.0	45.0					X																	130218328		2203	4300	6503	130046009	SO:0001583	missense	158763	exon5				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.695C>T	X.37:g.130218328C>T	ENSP00000276211:p.Ala232Val		130046009	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943270	0.18281	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.99	3.18	0.36537	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.130363	0.35349	N	0.003270	T	0.25568	0.0622	L	0.27053	0.805	0.28130	N	0.930236	P;P;P	0.48911	0.814;0.917;0.866	B;B;B	0.42245	0.272;0.381;0.14	T	0.07233	-1.0783	10	0.29301	T	0.29	.	5.2243	0.15385	0.0:0.6804:0.2075:0.1121	.	201;220;232	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	V	232;220;184;201;96	ENSP00000276211:A232V;ENSP00000359960:A220V;ENSP00000409218:A184V;ENSP00000408515:A201V;ENSP00000359959:A96V	ENSP00000276211:A232V	A	+	2	0	ARHGAP36	130046009	0.937000	0.31787	0.518000	0.27811	0.083000	0.17756	1.553000	0.36255	1.192000	0.43071	0.529000	0.55759	GCG		0.468	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
FRMD7	90167	broad.mit.edu	37	X	131212720	131212720	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:131212720G>T	ENST00000298542.4	-	12	1500	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.S322Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S427Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	442					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.S442Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGAGCTTAGAGAACTCCTCTC	0.428																																					p.S442Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325A	X						.						166.0	164.0	164.0					X																	131212720		2203	4300	6503	131040401	SO:0001583	missense	90167	exon12			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1325C>A	X.37:g.131212720G>T	ENSP00000298542:p.Ser442Tyr		131040401	NM_194277	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527182	0.44969	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86562	-2.14;-1.8;-1.91	5.76	5.76	0.90799	.	0.267689	0.32852	N	0.005563	T	0.77611	0.4156	N	0.08118	0	0.24087	N	0.995921	P;P	0.41131	0.739;0.49	B;B	0.39152	0.292;0.153	T	0.74858	-0.3521	10	0.72032	D	0.01	.	16.6966	0.85337	0.0:0.0:1.0:0.0	.	427;442	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	Y	322;442;427	ENSP00000359916:S322Y;ENSP00000298542:S442Y;ENSP00000417996:S427Y	ENSP00000298542:S442Y	S	-	2	0	FRMD7	131040401	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.937000	0.63513	2.418000	0.82041	0.600000	0.82982	TCT		0.428	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
MBNL3	55796	broad.mit.edu	37	X	131525102	131525102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:131525102C>A	ENST00000370853.3	-	4	622	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	MBNL3_ENST00000538204.1_Nonsense_Mutation_p.E132*|MBNL3_ENST00000370844.1_Nonsense_Mutation_p.E86*|MBNL3_ENST00000370839.3_Nonsense_Mutation_p.E182*|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370857.3_Nonsense_Mutation_p.E182*|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000394311.2_Nonsense_Mutation_p.E86*|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370849.3_Nonsense_Mutation_p.E132*	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	182					mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E182*(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CGCTGAAATTCTCGGCAAACC	0.433																																					p.E86X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G256T	X						.						90.0	78.0	82.0					X																	131525102		2203	4300	6503	131352783	SO:0001587	stop_gained	55796	exon5			AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.544G>T	X.37:g.131525102C>A	ENSP00000359890:p.Glu182*		131352783	NM_001170704	Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Nonsense_Mutation	SNP	ENST00000370853.3	37	CCDS14633.1	.	.	.	.	.	.	.	.	.	.	C	38	6.651068	0.97734	.	.	ENSG00000076770	ENST00000394311;ENST00000538204;ENST00000370857;ENST00000370853;ENST00000370849;ENST00000370839;ENST00000370844;ENST00000436215;ENST00000421707	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8846	19.0362	0.92980	0.0:1.0:0.0:0.0	.	.	.	.	X	86;132;182;182;132;182;86;86;86	.	ENSP00000359876:E182X	E	-	1	0	MBNL3	131352783	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.445000	0.82738	0.513000	0.50165	GAA		0.433	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388	
USP26	83844	broad.mit.edu	37	X	132159678	132159678	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:132159678G>A	ENST00000511190.1	-	6	3040	c.2571C>T	c.(2569-2571)taC>taT	p.Y857Y	USP26_ENST00000370832.1_Silent_p.Y857Y|USP26_ENST00000406273.1_Silent_p.Y857Y	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	857	USP.				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.Y857Y(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)					GCATATCATCGTAAGTGAACC	0.453																																					p.Y857Y	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2571T	X						.						145.0	122.0	130.0					X																	132159678		2203	4300	6503	131987344	SO:0001819	synonymous_variant	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.2571C>T	X.37:g.132159678G>A			131987344	NM_031907	B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	CCDS14635.1																																																																																				0.453	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	132160488	132160488	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:132160488T>G	ENST00000511190.1	-	6	2230	c.1761A>C	c.(1759-1761)tcA>tcC	p.S587S	USP26_ENST00000370832.1_Silent_p.S587S|USP26_ENST00000406273.1_Silent_p.S587S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	587	USP.				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.S587S(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)					TTGCAGGCCATGATACACTGA	0.413																																					p.S587S	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1761C	X						.						82.0	74.0	77.0					X																	132160488		2203	4299	6502	131988154	SO:0001819	synonymous_variant	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.1761A>C	X.37:g.132160488T>G			131988154	NM_031907	B9WRT6|Q5H9H4	Silent	SNP	ENST00000511190.1	37	CCDS14635.1																																																																																				0.413	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	132161838	132161838	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:132161838C>A	ENST00000511190.1	-	6	880	c.411G>T	c.(409-411)gaG>gaT	p.E137D	USP26_ENST00000370832.1_Missense_Mutation_p.E137D|USP26_ENST00000406273.1_Missense_Mutation_p.E137D	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	137					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.E137D(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)					TACTTGATTTCTCATCAACTT	0.433																																					p.E137D	NSCLC(104;342 1621 36940 47097 52632)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G411T	X						.						76.0	55.0	62.0					X																	132161838		2203	4299	6502	131989504	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.411G>T	X.37:g.132161838C>A	ENSP00000423390:p.Glu137Asp		131989504	NM_031907	B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	3.454	-0.111488	0.06881	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.54866	0.55;0.55;0.55	3.79	-2.85	0.05734	.	2.177290	0.02597	N	0.100626	T	0.30386	0.0763	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.04078	-1.0979	10	0.14656	T	0.56	3.4871	0.9248	0.01322	0.4361:0.2233:0.1417:0.1989	.	137	Q9BXU7	UBP26_HUMAN	D	137	ENSP00000359869:E137D;ENSP00000423390:E137D;ENSP00000384360:E137D	ENSP00000359869:E137D	E	-	3	2	USP26	131989504	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.352000	0.07701	-0.921000	0.03794	-0.360000	0.07572	GAG		0.433	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
GPC3	2719	broad.mit.edu	37	X	132730611	132730611	+	Missense_Mutation	SNP	G	G	T	rs139301532		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:132730611G>T	ENST00000370818.3	-	7	1875	c.1430C>A	c.(1429-1431)tCt>tAt	p.S477Y	GPC3_ENST00000543339.1_Missense_Mutation_p.S423Y|GPC3_ENST00000394299.2_Missense_Mutation_p.S500Y	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	477					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.S477F(1)|p.S477Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTTGGGCATAGACATGGTTCT	0.453			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.S461Y		yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1382A	X						.						178.0	154.0	162.0					X																	132730611		2203	4300	6503	132558277	SO:0001583	missense	2719	exon7	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.1430C>A	X.37:g.132730611G>T	ENSP00000359854:p.Ser477Tyr		132558277	NM_001164618	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.66|19.66	3.868533|3.868533	0.72065|0.72065	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.57752	.|0.43;0.38;0.44	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	.|1.378240	.|0.04343	.|N	.|0.354369	T|T	0.69351|0.69351	0.3101|0.3101	L|L	0.43923|0.43923	1.385|1.385	0.38526|0.38526	D|D	0.94884|0.94884	.|D;D;D;D	.|0.65815	.|0.993;0.995;0.995;0.984	.|D;P;D;D	.|0.68943	.|0.914;0.861;0.961;0.914	T|T	0.55379|0.55379	-0.8150|-0.8150	5|10	.|0.87932	.|D	.|0	.|.	14.2975|14.2975	0.66325|0.66325	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|461;423;500;477	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	I|Y	207|477;500;423	.|ENSP00000359854:S477Y;ENSP00000377836:S500Y;ENSP00000444222:S423Y	.|ENSP00000359854:S477Y	L|S	-|-	1|2	2|0	GPC3|GPC3	132558277|132558277	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.671000|5.671000	0.68095|0.68095	2.093000|2.093000	0.63338|0.63338	0.468000|0.468000	0.43344|0.43344	CTA|TCT		0.453	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
CCDC160	347475	broad.mit.edu	37	X	133379807	133379807	+	Nonstop_Mutation	SNP	A	A	T			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:133379807A>T	ENST00000517294.1	+	3	1360	c.977A>T	c.(976-978)tAa>tTa	p.*326L	CCDC160_ENST00000370809.4_Nonstop_Mutation_p.*326L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	0								p.*326L(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GATTTTTTTTAAAACTTAAAA	0.318																																					p.X326L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A977T	X						.						12.0	11.0	11.0					X																	133379807		1732	3939	5671	133207473	SO:0001578	stop_lost	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.977A>T	X.37:g.133379807A>T	ENSP00000427951:p.*326Leuext*8		133207473	NM_001101357		Read-through	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730866	0.30684	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.25	-0.308	0.12773	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8751	0.01222	0.4976:0.161:0.1831:0.1583	.	.	.	.	L	326	.	.	X	+	2	2	CCDC160	133207473	0.996000	0.38824	0.007000	0.13788	0.059000	0.15707	1.238000	0.32707	-0.335000	0.08451	-1.400000	0.01143	TAA		0.318	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
PLAC1	10761	broad.mit.edu	37	X	133700589	133700589	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:133700589A>C	ENST00000359237.4	-	3	409	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1									p.F42V(1)		large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTTAGCATGAAGGGGTGCACT	0.512																																					p.F42V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T124G	X						.						227.0	199.0	209.0					X																	133700589		2203	4300	6503	133528255	SO:0001583	missense	10761	exon3			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.124T>G	X.37:g.133700589A>C	ENSP00000352173:p.Phe42Val		133528255	NM_021796		Missense_Mutation	SNP	ENST00000359237.4	37	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	A	9.797	1.179487	0.21787	.	.	ENSG00000170965	ENST00000359237	D	0.81908	-1.55	4.35	1.93	0.25924	.	0.899500	0.09330	N	0.817068	T	0.79435	0.4445	M	0.72479	2.2	0.09310	N	1	P	0.36909	0.573	B	0.36666	0.23	T	0.64769	-0.6329	10	0.33940	T	0.23	-13.1094	5.2739	0.15639	0.7625:0.0:0.2375:0.0	.	42	Q9HBJ0	PLAC1_HUMAN	V	42	ENSP00000352173:F42V	ENSP00000352173:F42V	F	-	1	0	PLAC1	133528255	0.831000	0.29352	0.007000	0.13788	0.132000	0.20833	2.177000	0.42509	0.290000	0.22444	-0.360000	0.07572	TTC		0.512	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796	
FAM122B	159090	broad.mit.edu	37	X	133923269	133923269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:133923269C>A	ENST00000370790.1	-	3	1133	c.205G>T	c.(205-207)Gaa>Taa	p.E69*	FAM122B_ENST00000343004.5_Nonsense_Mutation_p.E88*|FAM122B_ENST00000298090.6_Nonsense_Mutation_p.E88*|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_Nonsense_Mutation_p.E69*	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	69								p.E69*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGTGCAGTTTCTCTGTTCACC	0.413																																					p.E88X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G262T	X						.						156.0	130.0	139.0					X																	133923269		2203	4300	6503	133750935	SO:0001587	stop_gained	159090	exon4			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.205G>T	X.37:g.133923269C>A	ENSP00000359826:p.Glu69*		133750935	NM_001170756	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Nonsense_Mutation	SNP	ENST00000370790.1	37	CCDS55497.1	.	.	.	.	.	.	.	.	.	.	C	37	6.352118	0.97498	.	.	ENSG00000156504	ENST00000370790;ENST00000298090;ENST00000343004;ENST00000394270;ENST00000486347	.	.	.	5.86	5.0	0.66597	.	0.076841	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.9168	0.58211	0.0:0.9207:0.0:0.0793	.	.	.	.	X	69;88;88;88;69	.	ENSP00000298090:E88X	E	-	1	0	FAM122B	133750935	1.000000	0.71417	0.777000	0.31699	0.662000	0.39071	5.779000	0.68948	1.215000	0.43411	0.594000	0.82650	GAA		0.413	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	NM_145284	
ZNF449	203523	broad.mit.edu	37	X	134481164	134481164	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:134481164G>A	ENST00000339249.4	+	2	261	c.121G>A	c.(121-123)Gca>Aca	p.A41T	ZNF449_ENST00000370760.3_Missense_Mutation_p.A41T|ZNF449_ENST00000370761.3_Missense_Mutation_p.A41T	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	41	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A41T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTACAGAGAAGCAGCTGGGCC	0.473																																					p.A41T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121A	X						.						96.0	90.0	92.0					X																	134481164		2203	4300	6503	134308830	SO:0001583	missense	203523	exon2			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.121G>A	X.37:g.134481164G>A	ENSP00000339585:p.Ala41Thr		134308830	NM_152695	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	G	9.199	1.028066	0.19512	.	.	ENSG00000173275	ENST00000370761;ENST00000339249;ENST00000370760	T;T;T	0.04502	3.61;3.61;3.61	4.6	3.74	0.42951	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.43110	D	0.000606	T	0.06005	0.0156	N	0.22421	0.69	0.09310	N	1	P;D;P	0.67145	0.856;0.996;0.733	P;P;P	0.60541	0.723;0.876;0.55	T	0.12319	-1.0552	10	0.02654	T	1	.	7.4423	0.27190	0.117:0.0:0.883:0.0	.	41;41;41	Q6P9G9;Q6P9G9-2;Q6P9G9-3	ZN449_HUMAN;.;.	T	41	ENSP00000359797:A41T;ENSP00000339585:A41T;ENSP00000359796:A41T	ENSP00000339585:A41T	A	+	1	0	ZNF449	134308830	1.000000	0.71417	0.051000	0.19133	0.965000	0.64279	3.488000	0.53229	1.282000	0.44496	0.594000	0.82650	GCA		0.473	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
SAGE1	55511	broad.mit.edu	37	X	134993887	134993887	+	Missense_Mutation	SNP	G	G	A	rs146408420		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:134993887G>A	ENST00000370709.3	+	17	2296	c.2296G>A	c.(2296-2298)Gac>Aac	p.D766N	SAGE1_ENST00000535938.1_Missense_Mutation_p.D766N|SAGE1_ENST00000324447.3_Missense_Mutation_p.D766N|SAGE1_ENST00000537770.1_Missense_Mutation_p.D390N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	766						nucleus (GO:0005634)		p.D766N(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTCTCTCACGACTTCACAAG	0.448																																					p.D766N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2296A	X						.	G	ASN/ASP	1,3834		0,1,1631,571	167.0	158.0	161.0		2296	1.8	0.0	X	dbSNP_134	161	0,6728		0,0,2428,1872	no	missense	SAGE1	NM_018666.2	23	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	766/905	134993887	1,10562	2203	4300	6503	134821553	SO:0001583	missense	55511	exon18			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2296G>A	X.37:g.134993887G>A	ENSP00000359743:p.Asp766Asn		134821553	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673551	0.29693	2.61E-4	0.0	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.39229	1.09;1.09;1.13;1.09	2.67	1.75	0.24633	.	0.896444	0.09542	N	0.788152	T	0.25901	0.0631	N	0.25890	0.77	0.09310	N	1	P;B	0.34662	0.462;0.102	B;B	0.20184	0.028;0.014	T	0.06770	-1.0808	10	0.33940	T	0.23	.	10.043	0.42169	0.0:0.2036:0.7964:0.0	.	390;766	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	N	766;766;390;766	ENSP00000323191:D766N;ENSP00000445959:D766N;ENSP00000438276:D390N;ENSP00000359743:D766N	ENSP00000323191:D766N	D	+	1	0	SAGE1	134821553	0.001000	0.12720	0.001000	0.08648	0.162000	0.22319	0.285000	0.18883	0.111000	0.17947	0.179000	0.17066	GAC		0.448	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
MAP7D3	79649	broad.mit.edu	37	X	135308162	135308162	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:135308162G>A	ENST00000316077.9	-	13	2265	c.2045C>T	c.(2044-2046)gCc>gTc	p.A682V	MAP7D3_ENST00000370663.5_Missense_Mutation_p.A664V|MAP7D3_ENST00000370661.1_Missense_Mutation_p.A647V|MAP7D3_ENST00000495432.1_5'UTR	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	682					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A979V(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)					TTTTATTTTGGCGTCCCCTTT	0.338																																					p.A647V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1940T	X						.						175.0	144.0	154.0					X																	135308162		1817	4072	5889	135135828	SO:0001583	missense	79649	exon12			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.2045C>T	X.37:g.135308162G>A	ENSP00000318086:p.Ala682Val		135135828	NM_001173517	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	8.228	0.804058	0.16467	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.48	1.67	0.24075	.	.	.	.	.	T	0.41604	0.1166	M	0.84948	2.725	0.09310	N	1	P;P;P;P	0.49559	0.925;0.908;0.925;0.908	P;B;P;B	0.48270	0.572;0.436;0.572;0.436	T	0.34354	-0.9832	9	0.87932	D	0	-0.8427	5.2049	0.15285	0.1955:0.0:0.64:0.1644	.	664;641;682;647	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	V	647;682;664;641	ENSP00000359695:A647V;ENSP00000318086:A682V;ENSP00000359697:A664V;ENSP00000359694:A641V	ENSP00000318086:A682V	A	-	2	0	MAP7D3	135135828	0.799000	0.28903	0.008000	0.14137	0.015000	0.08874	1.234000	0.32660	0.082000	0.17018	-0.245000	0.11935	GCC		0.338	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
GPR112	139378	broad.mit.edu	37	X	135428507	135428507	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:135428507C>A	ENST00000394143.1	+	6	2933	c.2642C>A	c.(2641-2643)tCt>tAt	p.S881Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S881Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S818Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S676Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S676Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	881					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.S881Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGACAGCTTCTGTCACTGTT	0.398																																					p.S881Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2642A	X						.						127.0	120.0	122.0					X																	135428507		2203	4300	6503	135256173	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2642C>A	X.37:g.135428507C>A	ENSP00000377699:p.Ser881Tyr		135256173	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	6.965	0.548081	0.13312	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.75	0.761	0.18448	.	.	.	.	.	T	0.42832	0.1220	L	0.29908	0.895	0.09310	N	1	D;P;P	0.58268	0.982;0.82;0.886	P;B;B	0.62184	0.899;0.445;0.259	T	0.24368	-1.0162	9	0.87932	D	0	.	4.0218	0.09668	0.0:0.5937:0.2435:0.1629	.	818;676;881	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	881;881;676;818;676	ENSP00000377699:S881Y;ENSP00000359686:S881Y;ENSP00000416526:S676Y;ENSP00000287534:S818Y;ENSP00000377697:S676Y	ENSP00000287534:S818Y	S	+	2	0	GPR112	135256173	0.002000	0.14202	0.005000	0.12908	0.206000	0.24218	-0.332000	0.07904	-0.044000	0.13491	0.284000	0.19432	TCT		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135429806	135429806	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:135429806C>T	ENST00000394143.1	+	6	4232	c.3941C>T	c.(3940-3942)tCg>tTg	p.S1314L	GPR112_ENST00000370652.1_Missense_Mutation_p.S1314L|GPR112_ENST00000287534.4_Missense_Mutation_p.S1251L|GPR112_ENST00000394141.1_Missense_Mutation_p.S1109L|GPR112_ENST00000412101.1_Missense_Mutation_p.S1109L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1314					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.S1314L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAACACATTCGCCTTCAGAG	0.433																																					p.S1314L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3941T	X						.						81.0	70.0	74.0					X																	135429806		2203	4300	6503	135257472	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3941C>T	X.37:g.135429806C>T	ENSP00000377699:p.Ser1314Leu		135257472	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	0.014	-1.605054	0.00842	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28666	1.63;1.63;1.6;1.74;1.6	2.92	-2.66	0.06077	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.23404	-1.0189	9	0.35671	T	0.21	.	7.724	0.28748	0.0:0.4304:0.0:0.5696	.	1251;1109;1314	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1314;1314;1109;1251;1109	ENSP00000377699:S1314L;ENSP00000359686:S1314L;ENSP00000416526:S1109L;ENSP00000287534:S1251L;ENSP00000377697:S1109L	ENSP00000287534:S1251L	S	+	2	0	GPR112	135257472	0.623000	0.27094	0.148000	0.22405	0.086000	0.17979	0.029000	0.13666	-0.757000	0.04697	-1.221000	0.01599	TCG		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
HTATSF1	27336	broad.mit.edu	37	X	135584989	135584989	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:135584989G>A	ENST00000218364.4	+	5	797	c.623G>A	c.(622-624)gGc>gAc	p.G208D	HTATSF1_ENST00000535601.1_Missense_Mutation_p.G208D	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	208	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G208D(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAATTAGAGGCTACAAATTA	0.328																																					p.G208D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	X						.						87.0	88.0	87.0					X																	135584989		2203	4298	6501	135412655	SO:0001583	missense	27336	exon5			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.623G>A	X.37:g.135584989G>A	ENSP00000218364:p.Gly208Asp		135412655	NM_014500	D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360520	0.82353	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T;T;T	0.53206	2.71;0.63;0.63;2.71	5.4	5.4	0.78164	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.81942	2.565	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	T	0.73874	-0.3845	10	0.52906	T	0.07	-7.5642	18.3147	0.90215	0.0:0.0:1.0:0.0	.	208	O43719	HTSF1_HUMAN	D	208	ENSP00000442699:G208D;ENSP00000411381:G208D;ENSP00000412420:G208D;ENSP00000218364:G208D	ENSP00000218364:G208D	G	+	2	0	HTATSF1	135412655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.294000	0.96088	2.264000	0.75181	0.468000	0.43344	GGC		0.328	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500	
OFD1	8481	broad.mit.edu	37	X	13764500	13764500	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:13764500G>A	ENST00000340096.6	+	7	907	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	OFD1_ENST00000380550.3_Missense_Mutation_p.E194K|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.E194K|OFD1_ENST00000380567.1_Missense_Mutation_p.E54K	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	194					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.E194K(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATCAAGTTCGAATCTTTAGA	0.343																																					p.E194K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G580A	X						.						71.0	64.0	67.0					X																	13764500		2203	4300	6503	13674421	SO:0001583	missense	8481	exon7			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.580G>A	X.37:g.13764500G>A	ENSP00000344314:p.Glu194Lys		13674421	NM_003611	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151123	0.38021	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.95756	-3.72;-3.49;-3.8;-1.72	5.65	4.77	0.60923	.	0.240997	0.44688	D	0.000438	D	0.96806	0.8957	M	0.74881	2.28	0.31448	N	0.671105	D;D;D;D	0.76494	0.998;0.993;0.999;0.997	P;P;P;P	0.62298	0.9;0.709;0.887;0.775	D	0.95598	0.8660	10	0.22109	T	0.4	-13.6563	15.7197	0.77697	0.0:0.1334:0.8666:0.0	.	194;194;54;194	A8K2T9;O75665-3;A6NF31;O75665	.;.;.;OFD1_HUMAN	K	194;194;194;54;57	ENSP00000369923:E194K;ENSP00000381432:E194K;ENSP00000344314:E194K;ENSP00000369941:E54K	ENSP00000344314:E194K	E	+	1	0	OFD1	13674421	1.000000	0.71417	0.197000	0.23402	0.030000	0.12068	6.343000	0.72986	1.133000	0.42147	-0.218000	0.12543	GAA		0.343	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	
OFD1	8481	broad.mit.edu	37	X	13764901	13764901	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:13764901G>T	ENST00000340096.6	+	8	984	c.657G>T	c.(655-657)ttG>ttT	p.L219F	OFD1_ENST00000380550.3_Missense_Mutation_p.L219F|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Missense_Mutation_p.L219F|OFD1_ENST00000380567.1_Missense_Mutation_p.L79F	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	219					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.L219F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ATTTGCAGTTGAAGTTTTTTA	0.279																																					p.L219F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G657T	X						.						27.0	27.0	27.0					X																	13764901		2196	4291	6487	13674822	SO:0001583	missense	8481	exon8			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.657G>T	X.37:g.13764901G>T	ENSP00000344314:p.Leu219Phe		13674822	NM_003611	B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355822	0.41700	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096;ENST00000380567;ENST00000543598	D;D;D;D	0.97066	-4.23;-3.87;-4.22;-2.26	5.61	1.81	0.25067	.	0.143865	0.44902	D	0.000418	D	0.97346	0.9132	M	0.74258	2.255	0.31794	N	0.629272	D;D;D;D;D	0.76494	0.983;0.999;0.999;0.997;0.999	P;D;D;D;D	0.72625	0.822;0.978;0.976;0.964;0.978	D	0.94832	0.7997	10	0.66056	D	0.02	-1.1838	4.4496	0.11614	0.4665:0.0:0.3816:0.1519	.	82;219;219;79;219	F5H2Z4;A8K2T9;O75665-3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	F	219;219;219;79;82	ENSP00000369923:L219F;ENSP00000381432:L219F;ENSP00000344314:L219F;ENSP00000369941:L79F	ENSP00000344314:L219F	L	+	3	2	OFD1	13674822	0.887000	0.30362	0.060000	0.19600	0.724000	0.41520	0.867000	0.27968	-0.065000	0.13021	0.544000	0.68410	TTG		0.279	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611	
GPR101	83550	broad.mit.edu	37	X	136113725	136113725	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:136113725C>T	ENST00000298110.1	-	1	108	c.109G>A	c.(109-111)Gtg>Atg	p.V37M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V37M(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATAACCAGCACGGTTGAGCGG	0.597																																					p.V37M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	X						.						95.0	72.0	80.0					X																	136113725		2203	4300	6503	135941391	SO:0001583	missense	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.109G>A	X.37:g.136113725C>T	ENSP00000298110:p.Val37Met		135941391	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703343	0.30232	.	.	ENSG00000165370	ENST00000298110	T	0.41758	0.99	5.09	3.06	0.35304	.	.	.	.	.	T	0.45577	0.1349	L	0.27053	0.805	0.31296	N	0.688839	D	0.76494	0.999	D	0.64042	0.921	T	0.48007	-0.9072	9	0.87932	D	0	-14.7588	8.7317	0.34503	0.1639:0.6785:0.1575:0.0	.	37	Q96P66	GP101_HUMAN	M	37	ENSP00000298110:V37M	ENSP00000298110:V37M	V	-	1	0	GPR101	135941391	0.537000	0.26386	0.878000	0.34440	0.353000	0.29299	1.011000	0.29911	2.100000	0.63781	0.544000	0.68410	GTG		0.597	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
MCF2	4168	broad.mit.edu	37	X	138678795	138678795	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:138678795T>G	ENST00000370576.4	-	19	2399	c.2190A>C	c.(2188-2190)gaA>gaC	p.E730D	MCF2_ENST00000370578.4_Missense_Mutation_p.E875D|MCF2_ENST00000536274.1_Missense_Mutation_p.E691D|MCF2_ENST00000338585.6_Missense_Mutation_p.E746D|MCF2_ENST00000520602.1_Missense_Mutation_p.E790D|MCF2_ENST00000414978.1_Missense_Mutation_p.E790D|MCF2_ENST00000519895.1_Missense_Mutation_p.E806D|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Missense_Mutation_p.E730D	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	730	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E806D(1)|p.E730D(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CAATGGCTTTTTCATACAAGA	0.403																																					p.E790D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2370C	X						.						122.0	102.0	109.0					X																	138678795		2203	4300	6503	138506461	SO:0001583	missense	4168	exon22				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2190A>C	X.37:g.138678795T>G	ENSP00000359608:p.Glu730Asp		138506461	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.24|15.24	2.775332|2.775332	0.49786|0.49786	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	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|.	5.88|5.88	-2.21|-2.21	0.06973|0.06973	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61578|0.61578	0.2358|0.2358	M|M	0.78049|0.78049	2.395|2.395	0.31063|0.31063	N|N	0.713893|0.713893	B;B;B;B;B;B;P;B|.	0.34757|.	0.252;0.337;0.119;0.252;0.119;0.252;0.467;0.252|.	B;B;B;B;B;B;B;B|.	0.41236|.	0.076;0.191;0.113;0.076;0.159;0.076;0.351;0.076|.	T|T	0.66360|0.66360	-0.5943|-0.5943	10|5	0.52906|.	T|.	0.07|.	.|.	12.8873|12.8873	0.58051|0.58051	0.0:0.5183:0.0:0.4817|0.0:0.5183:0.0:0.4817	.|.	806;875;691;730;730;875;746;730|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	D|Q	790;730;691;875;790;333;806;730;746|234	ENSP00000427745:E790D;ENSP00000359608:E730D;ENSP00000438155:E691D;ENSP00000359610:E875D;ENSP00000397055:E790D;ENSP00000405848:E333D;ENSP00000430276:E806D;ENSP00000359605:E730D;ENSP00000342204:E746D|.	ENSP00000342204:E746D|.	E|K	-|-	3|1	2|0	MCF2|MCF2	138506461|138506461	0.972000|0.972000	0.33761|0.33761	0.988000|0.988000	0.46212|0.46212	0.924000|0.924000	0.55760|0.55760	0.149000|0.149000	0.16243|0.16243	-0.480000|-0.480000	0.06803|0.06803	-0.314000|-0.314000	0.08810|0.08810	GAA|AAA		0.403	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
CSF2RA	1438	broad.mit.edu	37	X	1428404	1428404	+	3'UTR	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:1428404C>A	ENST00000381524.3	+	0	1421				CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000355432.3_Silent_p.I352I|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.I352I(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCATGGACATCTCCGCCTCCG	0.478																																					p.I352I	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056A	X						.						261.0	243.0	249.0					X																	1428404		2203	4296	6499	1388404	SO:0001624	3_prime_UTR_variant	1438	exon11			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*32C>A	X.37:g.1428404C>A			1388404	NM_172246	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	37	CCDS35191.1																																																																																				0.478	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
ATP11C	286410	broad.mit.edu	37	X	138884448	138884448	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:138884448G>T	ENST00000327569.3	-	7	713	c.615C>A	c.(613-615)atC>atA	p.I205I	ATP11C_ENST00000370557.1_Silent_p.I202I|ATP11C_ENST00000359686.2_Silent_p.I205I|ATP11C_ENST00000370543.1_Silent_p.I205I|ATP11C_ENST00000361648.2_Silent_p.I205I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	205					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.I205I(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)					GGAGGGTATCGATGGATTCTG	0.398																																					p.I205I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615A	X						.						274.0	221.0	239.0					X																	138884448		2203	4300	6503	138712114	SO:0001819	synonymous_variant	286410	exon7			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.615C>A	X.37:g.138884448G>T			138712114	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1																																																																																				0.398	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
MAGEC3	139081	broad.mit.edu	37	X	140969505	140969505	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:140969505C>A	ENST00000298296.1	+	4	832	c.832C>A	c.(832-834)Ctt>Att	p.L278I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	278	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L278I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTGATTCTTATTCTGAG	0.502																																					p.L278I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C832A	X						.						134.0	128.0	130.0					X																	140969505		2202	4300	6502	140797171	SO:0001583	missense	139081	exon4			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.832C>A	X.37:g.140969505C>A	ENSP00000298296:p.Leu278Ile		140797171	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015647	0.07959	.	.	ENSG00000165509	ENST00000298296	T	0.05081	3.5	2.26	-4.53	0.03462	.	.	.	.	.	T	0.02193	0.0068	N	0.13272	0.32	0.09310	N	1	B	0.20780	0.048	B	0.14023	0.01	T	0.44513	-0.9323	9	0.02654	T	1	.	1.3204	0.02115	0.2003:0.3623:0.2812:0.1562	.	278	Q8TD91	MAGC3_HUMAN	I	278	ENSP00000298296:L278I	ENSP00000298296:L278I	L	+	1	0	MAGEC3	140797171	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.582000	0.05814	-1.942000	0.01040	-1.459000	0.01027	CTT		0.502	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
MAGEC1	9947	broad.mit.edu	37	X	140993373	140993373	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:140993373G>T	ENST00000285879.4	+	4	469	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	61								p.E61D(1)|p.E61E(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)					CTGAGGGGGAGGACTCCTCGG	0.602										HNSCC(15;0.026)																											p.E61D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)	c.G183T	X						.						79.0	80.0	80.0					X																	140993373		2203	4300	6503	140821039	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.183G>T	X.37:g.140993373G>T	ENSP00000285879:p.Glu61Asp		140821039	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	4.405	0.074873	0.08485	.	.	ENSG00000155495	ENST00000285879	T	0.02812	4.15	0.149	0.149	0.14863	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.58432	D	0.999993	P	0.42584	0.784	B	0.33690	0.168	T	0.64101	-0.6486	9	0.87932	D	0	.	5.9897	0.19454	6.0E-4:0.0:0.9994:0.0	.	61	O60732	MAGC1_HUMAN	D	61	ENSP00000285879:E61D	ENSP00000285879:E61D	E	+	3	2	MAGEC1	140821039	0.003000	0.15002	0.019000	0.16419	0.019000	0.09904	0.213000	0.17521	0.177000	0.19895	0.179000	0.17066	GAG		0.602	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140993858	140993858	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:140993858G>T	ENST00000285879.4	+	4	954	c.668G>T	c.(667-669)aGt>aTt	p.S223I	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	223				TQSTF -> SQRTS (in Ref. 1 and 2). {ECO:0000305}.				p.S223I(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)					AGAACTCAGAGTACTTTTGAG	0.493										HNSCC(15;0.026)																											p.S223I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668T	X						.						112.0	116.0	115.0					X																	140993858		2202	4290	6492	140821524	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.668G>T	X.37:g.140993858G>T	ENSP00000285879:p.Ser223Ile		140821524	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	0.537	-0.855117	0.02630	.	.	ENSG00000155495	ENST00000285879	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.26876	0.162	B	0.24394	0.053	T	0.49370	-0.8947	8	0.27785	T	0.31	.	5.8503	0.18689	9.0E-4:0.0:0.9991:0.0	.	223	O60732	MAGC1_HUMAN	I	223	ENSP00000285879:S223I	ENSP00000285879:S223I	S	+	2	0	MAGEC1	140821524	0.004000	0.15560	0.019000	0.16419	0.019000	0.09904	-0.191000	0.09601	0.054000	0.16065	0.054000	0.15206	AGT		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140996068	140996068	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:140996068C>T	ENST00000285879.4	+	4	3164	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.L27F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	960	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L960F(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)					CATAGAGATACTTTTTGGCAT	0.488										HNSCC(15;0.026)																											p.L960F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2878T	X						.						144.0	137.0	140.0					X																	140996068		2203	4300	6503	140823734	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.2878C>T	X.37:g.140996068C>T	ENSP00000285879:p.Leu960Phe		140823734	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	7.720	0.697013	0.15106	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04917	3.53;3.53	0.837	-1.67	0.08238	.	.	.	.	.	T	0.09992	0.0245	L	0.48986	1.54	0.09310	N	1	P	0.52061	0.95	P	0.53224	0.721	T	0.14755	-1.0461	8	0.87932	D	0	.	.	.	.	.	960	O60732	MAGC1_HUMAN	F	960;27	ENSP00000285879:L960F;ENSP00000385500:L27F	ENSP00000285879:L960F	L	+	1	0	MAGEC1	140823734	0.012000	0.17670	0.007000	0.13788	0.189000	0.23516	0.010000	0.13242	-0.887000	0.03961	0.279000	0.19357	CTT		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
SLITRK4	139065	broad.mit.edu	37	X	142717256	142717256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:142717256C>A	ENST00000381779.4	-	2	1894	c.1669G>T	c.(1669-1671)Gaa>Taa	p.E557*	SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.E557*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.E557*	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	557	LRRCT 2.					integral component of membrane (GO:0016021)		p.E557*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CATTTCAGTTCTTTCACAACA	0.448																																					p.E557X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1669T	X						.						135.0	131.0	133.0					X																	142717256		2203	4300	6503	142544922	SO:0001587	stop_gained	139065	exon2			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1669G>T	X.37:g.142717256C>A	ENSP00000371198:p.Glu557*		142544922	NM_173078	Q5JXG3|Q8TCM8|Q96DL3	Nonsense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	38	7.048728	0.98029	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	.	.	.	5.41	5.41	0.78517	.	0.057097	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.1026	16.9315	0.86191	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000336627:E557X	E	-	1	0	SLITRK4	142544922	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.776000	0.85560	2.404000	0.81709	0.600000	0.82982	GAA		0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
SLITRK2	84631	broad.mit.edu	37	X	144906092	144906092	+	Nonsense_Mutation	SNP	G	G	T	rs147521566		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:144906092G>T	ENST00000370490.1	+	1	6404	c.2149G>T	c.(2149-2151)Gag>Tag	p.E717*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.E717*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.E717*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.E717*|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.E717*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	717					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.E717*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACCTGCAAGAGTTCAGCTA	0.498																																					p.E717X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2149T	X						.						83.0	86.0	85.0					X																	144906092		2203	4300	6503	144713784	SO:0001587	stop_gained	84631	exon3			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2149G>T	X.37:g.144906092G>T	ENSP00000359521:p.Glu717*		144713784	NM_001144006	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	59	36.074161	0.99983	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	.	.	.	5.34	5.34	0.76211	.	0.054551	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.1666	15.3882	0.74718	0.0:0.0:1.0:0.0	.	.	.	.	X	717	.	ENSP00000334374:E717X	E	+	1	0	SLITRK2	144713784	1.000000	0.71417	0.988000	0.46212	0.896000	0.52359	7.569000	0.82380	2.224000	0.72417	0.513000	0.50165	GAG		0.498	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
MOSPD2	158747	broad.mit.edu	37	X	14915235	14915235	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:14915235G>T	ENST00000380492.3	+	5	440	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.D118Y	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	118	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.D118Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCATGTAAAAGACCAGAAAAC	0.338																																					p.D118Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352T	X						.						112.0	105.0	108.0					X																	14915235		2203	4300	6503	14825156	SO:0001583	missense	158747	exon5			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.352G>T	X.37:g.14915235G>T	ENSP00000369860:p.Asp118Tyr		14825156	NM_152581	Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316863	0.81469	.	.	ENSG00000130150	ENST00000380492	T	0.75821	-0.97	5.23	5.23	0.72850	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87261	0.2279	10	0.66056	D	0.02	.	18.2	0.89834	0.0:0.0:1.0:0.0	.	118	Q8NHP6	MSPD2_HUMAN	Y	118	ENSP00000369860:D118Y	ENSP00000369860:D118Y	D	+	1	0	MOSPD2	14825156	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.470000	0.80973	2.322000	0.78497	0.529000	0.55759	GAC		0.338	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581	
AFF2	2334	broad.mit.edu	37	X	148038084	148038084	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:148038084C>T	ENST00000370460.2	+	11	2988	c.2509C>T	c.(2509-2511)Cgt>Tgt	p.R837C	AFF2_ENST00000342251.3_Missense_Mutation_p.R804C|AFF2_ENST00000286437.5_Missense_Mutation_p.R478C|AFF2_ENST00000370457.5_Missense_Mutation_p.R804C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	837					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R837C(1)|p.R478C(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAAACCCAAGCGTCAGACAGC	0.532																																					p.R837C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2509T	X						.						71.0	71.0	71.0					X																	148038084		2203	4300	6503	147845784	SO:0001583	missense	2334	exon11			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2509C>T	X.37:g.148038084C>T	ENSP00000359489:p.Arg837Cys		147845784	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737810	0.69304	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.87	5.87	0.94306	.	1.118720	0.06880	N	0.802281	D	0.83922	0.5359	M	0.72894	2.215	0.53005	D	0.99996	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	0.71414	0.973;0.953;0.953;0.953;0.953;0.973	T	0.75850	-0.3172	10	0.59425	D	0.04	.	19.1236	0.93374	0.0:1.0:0.0:0.0	.	478;802;804;798;827;837	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	837;804;804;478	ENSP00000359489:R837C;ENSP00000359486:R804C;ENSP00000345459:R804C;ENSP00000286437:R478C	ENSP00000286437:R478C	R	+	1	0	AFF2	147845784	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	2.776000	0.47709	2.467000	0.83353	0.600000	0.82982	CGT		0.532	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
TMEM185A	84548	broad.mit.edu	37	X	148690511	148690511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:148690511C>A	ENST00000316916.8	-	3	530	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	TMEM185A_ENST00000507237.1_Nonsense_Mutation_p.E76*|TMEM185A_ENST00000536359.1_Nonsense_Mutation_p.E17*	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	76						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.E76*(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACACACGTTTCTCCTTCTGCT	0.418																																					p.E76X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G226T	X						.						107.0	91.0	96.0					X																	148690511		2202	4299	6501	148498307	SO:0001587	stop_gained	84548	exon3			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.226G>T	X.37:g.148690511C>A	ENSP00000359449:p.Glu76*		148498307	NM_032508	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Nonsense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	C	37	6.294642	0.97449	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	.	.	.	5.46	5.46	0.80206	.	0.047505	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-11.9027	17.2137	0.86937	0.0:1.0:0.0:0.0	.	.	.	.	X	76;17;76;17	.	ENSP00000359449:E76X	E	-	1	0	TMEM185A	148498307	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.438000	0.80431	2.275000	0.75901	0.513000	0.50165	GAA		0.418	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508	
TMEM185A	84548	broad.mit.edu	37	X	148692971	148692971	+	Splice_Site	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:148692971G>A	ENST00000316916.8	-	2	518	c.214C>T	c.(214-216)Cga>Tga	p.R72*	TMEM185A_ENST00000507237.1_Splice_Site_p.R72*|TMEM185A_ENST00000536359.1_Intron	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	72						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.R72*(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGTATTACCGATATTGAGGA	0.423																																					p.R72X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C214T	X						.						236.0	232.0	233.0					X																	148692971		2203	4299	6502	148500772	SO:0001630	splice_region_variant	84548	exon2			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.215+1C>T	X.37:g.148692971G>A			148500772	NM_032508	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Nonsense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	G	40	8.290624	0.98745	.	.	ENSG00000155984	ENST00000316916;ENST00000507237	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5255	0.50578	0.0:0.0:0.8213:0.1787	.	.	.	.	X	72	.	ENSP00000359449:R72X	R	-	1	2	TMEM185A	148500772	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.579000	0.74036	2.040000	0.60383	0.594000	0.82650	CGA		0.423	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4	NM_032508	Nonsense_Mutation
MTMR1	8776	broad.mit.edu	37	X	149919217	149919217	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:149919217G>A	ENST00000370390.3	+	13	1715	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	MTMR1_ENST00000541925.1_Missense_Mutation_p.E426K|MTMR1_ENST00000544228.1_Missense_Mutation_p.E520K|MTMR1_ENST00000538506.1_Missense_Mutation_p.E345K|MTMR1_ENST00000451863.2_Missense_Mutation_p.E520K|MTMR1_ENST00000445323.2_Missense_Mutation_p.E528K	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	520	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.E520K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGCATTCGAGTTTAATGA	0.328																																					p.E520K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1558A	X						.						193.0	162.0	172.0					X																	149919217		2203	4299	6502	149669875	SO:0001583	missense	8776	exon13			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1558G>A	X.37:g.149919217G>A	ENSP00000359417:p.Glu520Lys		149669875	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349269	0.95830	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	6.14	6.14	0.99180	Myotubularin phosphatase domain (1);	0.212522	0.48767	D	0.000180	D	0.98988	0.9655	H	0.99130	4.44	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60117	0.869;0.843	D	0.99038	1.0823	10	0.87932	D	0	.	19.7229	0.96150	0.0:0.0:1.0:0.0	.	520;528	Q13613;F8WA39	MTMR1_HUMAN;.	K	426;520;528;520;520;345	ENSP00000441879:E426K;ENSP00000359417:E520K;ENSP00000414178:E528K;ENSP00000440534:E520K;ENSP00000387446:E520K;ENSP00000443444:E345K	ENSP00000359417:E520K	E	+	1	0	MTMR1	149669875	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	9.476000	0.97823	2.615000	0.88500	0.596000	0.82720	GAG		0.328	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
CNGA2	1260	broad.mit.edu	37	X	150911720	150911720	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:150911720C>T	ENST00000329903.4	+	6	778	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	249					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R249C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTTCAACCGCCTGCTGCA	0.532																																					p.R249C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C745T	X						.						170.0	128.0	142.0					X																	150911720		2203	4300	6503	150662376	SO:0001583	missense	1260	exon7			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.745C>T	X.37:g.150911720C>T	ENSP00000328478:p.Arg249Cys		150662376	NM_005140	A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008471	0.75046	.	.	ENSG00000183862	ENST00000329903	D	0.99369	-5.78	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97404	0.9998	10	0.87932	D	0	.	15.6554	0.77129	0.0:1.0:0.0:0.0	.	249	Q16280	CNGA2_HUMAN	C	249	ENSP00000328478:R249C	ENSP00000328478:R249C	R	+	1	0	CNGA2	150662376	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.572000	0.53849	2.293000	0.77203	0.600000	0.82982	CGC		0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140	
PIGA	5277	broad.mit.edu	37	X	15339715	15339715	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:15339715A>G	ENST00000333590.4	-	6	1452	c.1368T>C	c.(1366-1368)gaT>gaC	p.D456D	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.D222D|PIGA_ENST00000428964.1_Silent_p.D141D	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	456					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.D456D(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GCCCAGTGGCATCTATTGCAA	0.428																																					p.D222D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T666C	X						.						120.0	116.0	117.0					X																	15339715		2203	4300	6503	15249636	SO:0001819	synonymous_variant	5277	exon5			BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1368T>C	X.37:g.15339715A>G			15249636	NM_020473	B4E0V2|Q16025|Q16250	Silent	SNP	ENST00000333590.4	37	CCDS14165.1																																																																																				0.428	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641	
MAGEA3	4102	broad.mit.edu	37	X	151935533	151935533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:151935533C>A	ENST00000393902.3	-	3	1201	c.634G>T	c.(634-636)Gag>Tag	p.E212*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E212*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	212	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E212*(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTCGCCCTCTCTTGCGATT	0.567																																					p.E212X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G634T	X						.						148.0	146.0	146.0					X																	151935533		2202	4292	6494	151686189	SO:0001587	stop_gained	4102	exon3				CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.634G>T	X.37:g.151935533C>A	ENSP00000377480:p.Glu212*		151686189	NM_005362	Q6FHI6	Nonsense_Mutation	SNP	ENST00000393902.3	37	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.549159	0.86127	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	.	.	.	1.42	-1.11	0.09840	.	0.574103	0.19007	N	0.125183	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	2.4772	0.04579	0.0:0.4344:0.3185:0.2471	.	.	.	.	X	212	.	ENSP00000359301:E212X	E	-	1	0	MAGEA3	151686189	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.163000	0.03138	-0.392000	0.07751	0.358000	0.22013	GAG		0.567	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362	
FIGF	2277	broad.mit.edu	37	X	15376294	15376294	+	Missense_Mutation	SNP	C	C	A	rs78901600		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:15376294C>A	ENST00000297904.3	-	3	752	c.323G>T	c.(322-324)aGa>aTa	p.R108I		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	108					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.R108I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GCACTGAGTTCTTTGCCATTC	0.522																																					p.R108I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G323T	X						.						188.0	158.0	168.0					X																	15376294		2203	4300	6503	15286215	SO:0001583	missense	2277	exon3			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.323G>T	X.37:g.15376294C>A	ENSP00000297904:p.Arg108Ile		15286215	NM_004469	B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678385	0.68042	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	4.24	0.50183	Platelet-derived growth factor (PDGF) (1);	0.121948	0.64402	D	0.000012	T	0.50667	0.1629	L	0.54323	1.7	0.49299	D	0.999774	D	0.59357	0.985	P	0.48089	0.566	T	0.53486	-0.8432	9	0.87932	D	0	-15.9467	6.5385	0.22367	0.0:0.6947:0.0:0.3053	.	108	O43915	VEGFD_HUMAN	I	108	.	ENSP00000297904:R108I	R	-	2	0	FIGF	15286215	0.956000	0.32656	0.675000	0.29917	0.986000	0.74619	1.799000	0.38824	1.054000	0.40438	0.529000	0.55759	AGA		0.522	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
L1CAM	3897	broad.mit.edu	37	X	153130322	153130322	+	Silent	SNP	G	G	A	rs149420127		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:153130322G>A	ENST00000370060.1	-	23	3189	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	L1CAM_ENST00000361981.3_Silent_p.G995G|L1CAM_ENST00000370057.3_Silent_p.G1000G|L1CAM_ENST00000370055.1_Silent_p.G995G|L1CAM_ENST00000543994.1_Silent_p.G1002G|L1CAM_ENST00000361699.4_Silent_p.G1000G|L1CAM_ENST00000538883.1_Silent_p.G1002G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1000	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.G1000G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCACCAGGGCCCTCTTTGG	0.632																																					p.G995G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2985T	X						.	G	,,	0,3835		0,0,1632,571	121.0	113.0	115.0		3000,2985,3000	-1.8	0.5	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	L1CAM	NM_000425.3,NM_001143963.1,NM_024003.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	1000/1258,995/1249,1000/1254	153130322	1,10562	2203	4300	6503	152783516	SO:0001819	synonymous_variant	3897	exon21			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3000C>T	X.37:g.153130322G>A			152783516	NM_001143963	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Silent	SNP	ENST00000370060.1	37	CCDS14733.1																																																																																				0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
TKTL1	8277	broad.mit.edu	37	X	153549234	153549234	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:153549234T>C	ENST00000369915.3	+	8	1349	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	TKTL1_ENST00000217905.7_Missense_Mutation_p.I127T|TKTL1_ENST00000369912.2_Missense_Mutation_p.I331T	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	387					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.I387T(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)					ATCAACATTATTGGTTCCCAC	0.468																																					p.I381T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1142C	X						.						236.0	187.0	203.0					X																	153549234		2203	4300	6503	153202428	SO:0001583	missense	8277	exon8			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.1160T>C	X.37:g.153549234T>C	ENSP00000358931:p.Ile387Thr		153202428	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	T	7.478	0.648136	0.14516	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.92299	-3.01;-3.01;-3.01	4.82	1.99	0.26369	Transketolase-like, pyrimidine-binding domain (2);	0.669311	0.14857	N	0.294328	D	0.92378	0.7581	M	0.86805	2.84	0.30684	N	0.752026	B;B;B	0.32467	0.202;0.372;0.372	B;B;B	0.39771	0.145;0.309;0.309	D	0.90017	0.4125	10	0.72032	D	0.01	-4.4662	5.3193	0.15872	0.0:0.1224:0.3517:0.5259	.	127;381;387	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	T	387;331;127;331	ENSP00000358931:I387T;ENSP00000217905:I127T;ENSP00000358928:I331T	ENSP00000217905:I127T	I	+	2	0	TKTL1	153202428	0.004000	0.15560	0.136000	0.22124	0.158000	0.22134	1.025000	0.30090	0.523000	0.28482	0.356000	0.21956	ATT		0.468	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
DKC1	1736	broad.mit.edu	37	X	154003541	154003541	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:154003541C>T	ENST00000369550.5	+	13	1541	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	444					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.T444I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					GCAGCAAAAACTGCGAAGGTG	0.478									Congenital Dyskeratosis																												p.T444I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1331T	X						.						112.0	91.0	98.0					X																	154003541		2203	4300	6503	153656735	SO:0001583	missense	1736	exon13	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1331C>T	X.37:g.154003541C>T	ENSP00000358563:p.Thr444Ile		153656735	NM_001363	F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242568	0.22796	.	.	ENSG00000130826	ENST00000369550	D	0.97303	-4.33	5.49	-0.764	0.11027	.	2.732900	0.00926	N	0.002658	D	0.93093	0.7801	N	0.25647	0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	D	0.84535	0.0635	10	0.38643	T	0.18	2.2064	5.3391	0.15974	0.0:0.4356:0.1382:0.4262	.	444;444	A8MUT5;O60832	.;DKC1_HUMAN	I	444	ENSP00000358563:T444I	ENSP00000358563:T444I	T	+	2	0	DKC1	153656735	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.176000	0.16782	-0.373000	0.07979	0.600000	0.82982	ACT		0.478	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363	
F8	2157	broad.mit.edu	37	X	154158356	154158356	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:154158356T>C	ENST00000360256.4	-	14	3909	c.3709A>G	c.(3709-3711)Act>Gct	p.T1237A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1237	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.T1237A(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)	TTAGTGCCAGTCACTGTATGT	0.343																																					p.T1237A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3709G	X						.						57.0	47.0	50.0					X																	154158356		2202	4299	6501	153811550	SO:0001583	missense	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3709A>G	X.37:g.154158356T>C	ENSP00000353393:p.Thr1237Ala		153811550	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	t	6.503	0.460959	0.12342	.	.	ENSG00000185010	ENST00000360256	D	0.99129	-5.46	5.87	0.283	0.15696	.	0.669254	0.15409	N	0.263901	D	0.96386	0.8821	L	0.55481	1.735	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	D	0.91929	0.5553	10	0.39692	T	0.17	-0.5718	2.8663	0.05602	0.3201:0.1833:0.0:0.4966	.	1237	P00451	FA8_HUMAN	A	1237	ENSP00000353393:T1237A	ENSP00000353393:T1237A	T	-	1	0	F8	153811550	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	0.141000	0.16076	0.293000	0.22520	0.483000	0.47432	ACT		0.343	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
RAB39B	116442	broad.mit.edu	37	X	154490417	154490417	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:154490417C>G	ENST00000369454.3	-	2	613	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	105					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.E105Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGGTCTCTTCTAACCACTCA	0.488																																					p.E105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313C	X						.						195.0	183.0	187.0					X																	154490417		2203	4300	6503	154143611	SO:0001583	missense	116442	exon2			AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.313G>C	X.37:g.154490417C>G	ENSP00000358466:p.Glu105Gln		154143611	NM_171998	Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	c	18.43	3.622281	0.66787	.	.	ENSG00000155961	ENST00000369454	T	0.77358	-1.09	4.6	3.74	0.42951	Small GTP-binding protein domain (1);	0.056069	0.64402	D	0.000001	T	0.72700	0.3493	N	0.14661	0.345	0.51767	D	0.999932	D	0.59767	0.986	P	0.56398	0.797	T	0.75036	-0.3459	10	0.56958	D	0.05	.	11.5198	0.50545	0.1813:0.8187:0.0:0.0	.	105	Q96DA2	RB39B_HUMAN	Q	105	ENSP00000358466:E105Q	ENSP00000358466:E105Q	E	-	1	0	RAB39B	154143611	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.005000	0.70716	1.020000	0.39573	-0.274000	0.10170	GAA		0.488	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998	
MXRA5	25878	broad.mit.edu	37	X	3240135	3240135	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:3240135C>T	ENST00000217939.6	-	5	3745	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1197						extracellular vesicular exosome (GO:0070062)		p.E1197E(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)				CCAGAGAACTCTCCACTTGAC	0.468																																					p.E1197E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3591A	X						.						117.0	112.0	114.0					X																	3240135		2203	4300	6503	3250135	SO:0001819	synonymous_variant	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3591G>A	X.37:g.3240135C>T			3250135	NM_015419	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NLGN4X	57502	broad.mit.edu	37	X	5811344	5811344	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:5811344T>C	ENST00000381095.3	-	6	2592	c.1965A>G	c.(1963-1965)aaA>aaG	p.K655K	NLGN4X_ENST00000275857.6_Silent_p.K655K|NLGN4X_ENST00000381093.2_Silent_p.K675K|NLGN4X_ENST00000381092.1_Silent_p.K655K|NLGN4X_ENST00000538097.1_Silent_p.K655K	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	655					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.K655K(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						CAGGCCCTGTTTTGTGAGGGT	0.537																																					p.K655K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1965G	X						.						232.0	210.0	218.0					X																	5811344		2203	4300	6503	5821344	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.1965A>G	X.37:g.5811344T>C			5821344	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
FAM9B	171483	broad.mit.edu	37	X	8997410	8997410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:8997410C>A	ENST00000327220.5	-	6	695	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	FAM9B_ENST00000362066.3_Nonsense_Mutation_p.E151*|FAM9B_ENST00000428477.1_Nonsense_Mutation_p.E111*			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	111						nucleus (GO:0005634)		p.E111*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GTGATGTATTCTTCAAGGACA	0.363																																					p.E111X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G331T	X						.						206.0	154.0	172.0					X																	8997410		2203	4300	6503	8957410	SO:0001587	stop_gained	171483	exon5				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.331G>T	X.37:g.8997410C>A	ENSP00000318716:p.Glu111*		8957410	NM_205849	Q0IJ68|Q8N7Z8	Nonsense_Mutation	SNP	ENST00000327220.5	37	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279860	0.40294	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	0.43	0.16515	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999993	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	.	.	.	.	.	.	.	X	151;111;111	.	ENSP00000318716:E111X	E	-	1	0	FAM9B	8957410	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.342000	0.02645	0.434000	0.26340	0.436000	0.28706	GAA		0.363	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849	
GPR143	4935	broad.mit.edu	37	X	9711655	9711655	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:9711655T>C	ENST00000467482.1	-	6	863	c.717A>G	c.(715-717)ggA>ggG	p.G239G	GPR143_ENST00000380929.2_Silent_p.G259G			P51810	GP143_HUMAN	G protein-coupled receptor 143	239					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)	p.G259G(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TGATCACGGCTCCCATCCTCC	0.388																																					p.G239G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A717G	X						.						168.0	144.0	152.0					X																	9711655		2203	4300	6503	9671655	SO:0001819	synonymous_variant	4935	exon6			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.717A>G	X.37:g.9711655T>C			9671655	NM_000273	Q6NTI7	Silent	SNP	ENST00000467482.1	37	CCDS14134.2	.	.	.	.	.	.	.	.	.	.	T	6.497	0.459810	0.12342	.	.	ENSG00000101850	ENST00000447366	.	.	.	5.15	0.153	0.14897	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.31336	-0.9947	4	.	.	.	-12.6199	4.8248	0.13410	0.0:0.3415:0.3151:0.3434	.	.	.	.	G	175	.	.	S	-	1	0	GPR143	9671655	0.446000	0.25665	0.449000	0.26957	0.680000	0.39746	-0.702000	0.05069	-0.363000	0.08101	0.417000	0.27973	AGC		0.388	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273	
MAP7D2	256714	broad.mit.edu	37	X	20028972	20028972	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:20028972G>A	ENST00000379651.3	-	15	2166	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	MAP7D2_ENST00000543767.1_Silent_p.I601I|MAP7D2_ENST00000379643.5_Silent_p.I757I|MAP7D2_ENST00000443379.3_Silent_p.I671I|MAP7D2_ENST00000452324.3_Silent_p.I664I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	716					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.I716I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TAAATCCTTCGATAAGGTTTT	0.423																																					p.I757I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2271T	X						.						119.0	114.0	116.0					X																	20028972		2203	4300	6503	19938893	SO:0001819	synonymous_variant	256714	exon16			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.2148C>T	X.37:g.20028972G>A			19938893	NM_001168465	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	CCDS14195.1																																																																																				0.423	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780	
RPS6KA3	6197	broad.mit.edu	37	X	20222187	20222187	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:20222187G>T	ENST00000379565.3	-	4	485	c.278C>A	c.(277-279)gCt>gAt	p.A93D	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A65D|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A65D|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A64D	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	93	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A93D(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	AAGCTGCCTAGCATCAGAGCC	0.323																																					p.A93D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278A	X						.						128.0	117.0	121.0					X																	20222187		2203	4300	6503	20132108	SO:0001583	missense	6197	exon4			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.278C>A	X.37:g.20222187G>T	ENSP00000368884:p.Ala93Asp		20132108	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323858	0.60634	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702;ENST00000457145;ENST00000438357	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;3.3	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.185721	0.46758	D	0.000270	T	0.22044	0.0531	N	0.04994	-0.135	0.80722	D	1	B;B;D;B	0.56968	0.096;0.191;0.978;0.344	B;B;P;B	0.55112	0.055;0.022;0.769;0.055	T	0.25363	-1.0134	10	0.49607	T	0.09	.	18.2983	0.90154	0.0:0.0:1.0:0.0	.	65;64;65;93	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	D	93;65;64;65;64;65	ENSP00000368884:A93D;ENSP00000440220:A65D;ENSP00000368865:A64D;ENSP00000444837:A65D;ENSP00000407655:A64D;ENSP00000388512:A65D	ENSP00000368865:A64D	A	-	2	0	RPS6KA3	20132108	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.035000	0.70940	2.260000	0.74910	0.600000	0.82982	GCT		0.323	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
CNKSR2	22866	broad.mit.edu	37	X	21609171	21609171	+	Silent	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:21609171T>A	ENST00000379510.3	+	15	1725	c.1689T>A	c.(1687-1689)atT>atA	p.I563I	CNKSR2_ENST00000279451.4_Silent_p.I563I|CNKSR2_ENST00000425654.2_Silent_p.I533I|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Silent_p.I514I	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	563					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGACGAATTTCTTGCAAAG	0.388																																					p.I514I												.	.	0			c.T1542A	X						.						127.0	128.0	127.0					X																	21609171		2203	4300	6503	21519092	SO:0001819	synonymous_variant	22866	exon14			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1689T>A	X.37:g.21609171T>A			21519092	NM_001168649	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Silent	SNP	ENST00000379510.3	37	CCDS14198.1																																																																																				0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
ACOT9	23597	broad.mit.edu	37	X	23751331	23751331	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:23751331C>T	ENST00000336430.7	-	3	253	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	ACOT9_ENST00000492081.1_5'UTR|ACOT9_ENST00000379303.5_Missense_Mutation_p.R50Q|ACOT9_ENST00000379295.1_5'UTR	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	41					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)	p.R41Q(2)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CAACTTATCTCGAACTGAAAC	0.368																																					p.R50Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G149A	X						.						118.0	99.0	105.0					X																	23751331		2203	4300	6503	23661252	SO:0001583	missense	23597	exon4			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.122G>A	X.37:g.23751331C>T	ENSP00000336580:p.Arg41Gln		23661252	NM_001037171	B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364865	0.82463	.	.	ENSG00000123130	ENST00000379303;ENST00000336430	T;T	0.35048	1.34;1.33	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.83118	2.625	0.80722	D	1	B;P	0.40398	0.345;0.716	B;B	0.35770	0.041;0.21	T	0.52298	-0.8594	10	0.41790	T	0.15	-6.5708	18.2181	0.89893	0.0:1.0:0.0:0.0	.	41;50	Q9Y305;Q9Y305-4	ACOT9_HUMAN;.	Q	50;41	ENSP00000368605:R50Q;ENSP00000336580:R41Q	ENSP00000336580:R41Q	R	-	2	0	ACOT9	23661252	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.108000	0.77055	2.239000	0.73571	0.600000	0.82982	CGA		0.368	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332	
CXorf58	254158	broad.mit.edu	37	X	23956728	23956728	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:23956728C>A	ENST00000379211.3	+	8	1399	c.850C>A	c.(850-852)Ctg>Atg	p.L284M		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	284								p.L284M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AGTTAAATTTCTGGGTCGTCG	0.338																																					p.L284M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C850A	X						.						86.0	85.0	86.0					X																	23956728		2202	4300	6502	23866649	SO:0001583	missense	254158	exon8			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.850C>A	X.37:g.23956728C>A	ENSP00000368511:p.Leu284Met		23866649	NM_152761		Missense_Mutation	SNP	ENST00000379211.3	37	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311527	0.23821	.	.	ENSG00000165182	ENST00000379211	T	0.29917	1.55	4.76	-0.504	0.11997	.	0.563117	0.14962	N	0.288285	T	0.24736	0.0600	L	0.57536	1.79	0.09310	N	1	P;P	0.41102	0.6;0.738	B;B	0.40009	0.316;0.276	T	0.10894	-1.0610	10	0.34782	T	0.22	-0.0379	4.571	0.12210	0.4284:0.3919:0.0:0.1797	.	284;284	B7ZLS7;Q96LI9	.;CX058_HUMAN	M	284	ENSP00000368511:L284M	ENSP00000368511:L284M	L	+	1	2	CXorf58	23866649	0.020000	0.18652	0.000000	0.03702	0.049000	0.14656	0.506000	0.22658	-0.106000	0.12110	0.523000	0.50628	CTG		0.338	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
KLHL15	80311	broad.mit.edu	37	X	24007130	24007130	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:24007130A>C	ENST00000328046.8	-	4	978	c.723T>G	c.(721-723)ttT>ttG	p.F241L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	241					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGTATCTATAAAATTCTGATG	0.378																																					p.F241L												.	.	0			c.T723G	X						.						41.0	42.0	42.0					X																	24007130		2191	4286	6477	23917051	SO:0001583	missense	80311	exon4			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.723T>G	X.37:g.24007130A>C	ENSP00000332791:p.Phe241Leu		23917051	NM_030624	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284090	0.23392	.	.	ENSG00000174010	ENST00000328046	T	0.69040	-0.37	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.43897	0.1268	N	0.19112	0.55	0.50813	D	0.999892	B	0.12013	0.005	B	0.08055	0.003	T	0.35375	-0.9791	10	0.02654	T	1	.	8.8604	0.35253	0.9144:0.0:0.0856:0.0	.	241	Q96M94	KLH15_HUMAN	L	241	ENSP00000332791:F241L	ENSP00000332791:F241L	F	-	3	2	KLHL15	23917051	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.425000	0.52771	1.788000	0.52465	0.425000	0.28330	TTT		0.378	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383	
POLA1	5422	broad.mit.edu	37	X	24751927	24751927	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:24751927G>T	ENST00000379059.3	+	17	1824	c.1809G>T	c.(1807-1809)gaG>gaT	p.E603D	POLA1_ENST00000493342.1_3'UTR|POLA1_ENST00000379068.3_Missense_Mutation_p.E609D	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	603					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.E603D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AAGTCATTGAGAAAAAGGTAA	0.338																																					p.E603D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1809T	X						.						46.0	45.0	45.0					X																	24751927		2201	4295	6496	24661848	SO:0001583	missense	5422	exon17				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.1809G>T	X.37:g.24751927G>T	ENSP00000368349:p.Glu603Asp		24661848	NM_016937	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	6.693	0.496510	0.12762	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.40756	1.02;1.02	4.81	-1.07	0.09968	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.497273	0.24054	N	0.041974	T	0.18173	0.0436	N	0.10809	0.05	0.09310	N	1	B	0.16396	0.017	B	0.20577	0.03	T	0.08994	-1.0695	10	0.38643	T	0.18	0.0	4.0849	0.09943	0.312:0.0:0.2758:0.4122	.	603	P09884	DPOLA_HUMAN	D	609;603	ENSP00000368358:E609D;ENSP00000368349:E603D	ENSP00000368349:E603D	E	+	3	2	POLA1	24661848	0.995000	0.38212	0.000000	0.03702	0.215000	0.24574	0.777000	0.26718	-0.154000	0.11118	0.422000	0.28245	GAG		0.338	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
IL1RAPL1	11141	broad.mit.edu	37	X	29301120	29301120	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:29301120C>T	ENST00000378993.1	+	3	821	c.148C>T	c.(148-150)Cga>Tga	p.R50*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.R50*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	50	Ig-like C2-type 1.				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.R50*(2)		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						AGAGCCTGTTCGAATCAAATG	0.413																																					p.R50X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C148T	X						.						143.0	126.0	132.0					X																	29301120		2202	4300	6502	29211041	SO:0001587	stop_gained	11141	exon3			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.148C>T	X.37:g.29301120C>T	ENSP00000368278:p.Arg50*		29211041	NM_014271	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	43	9.909426	0.99293	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.51	4.62	0.57501	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	13.7032	0.62622	0.1586:0.8414:0.0:0.0	.	.	.	.	X	50	.	ENSP00000305200:R50X	R	+	1	2	IL1RAPL1	29211041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.745000	0.38278	1.161000	0.42604	0.600000	0.82982	CGA		0.413	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
IL1RAPL1	11141	broad.mit.edu	37	X	29414495	29414495	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:29414495A>C	ENST00000378993.1	+	4	1156	c.483A>C	c.(481-483)gaA>gaC	p.E161D	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E161D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	161	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.E161D(2)		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						AAAGCAAGGAAATTTCATGCC	0.403																																					p.E161D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A483C	X						.						113.0	107.0	109.0					X																	29414495		2202	4300	6502	29324416	SO:0001583	missense	11141	exon4			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.483A>C	X.37:g.29414495A>C	ENSP00000368278:p.Glu161Asp		29324416	NM_014271	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419734	0.25552	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.77620	-1.11;-1.11	5.26	1.48	0.22813	Immunoglobulin subtype (1);	0.116150	0.56097	D	0.000021	T	0.64405	0.2595	L	0.39397	1.21	0.27308	N	0.957389	B	0.11235	0.004	B	0.16289	0.015	T	0.49908	-0.8889	9	.	.	.	.	8.0377	0.30502	0.752:0.0:0.248:0.0	.	161	Q9NZN1	IRPL1_HUMAN	D	161	ENSP00000368278:E161D;ENSP00000305200:E161D	.	E	+	3	2	IL1RAPL1	29324416	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.090000	0.30902	0.228000	0.21019	0.417000	0.27973	GAA		0.403	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
TAB3	257397	broad.mit.edu	37	X	30864739	30864739	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:30864739C>A	ENST00000378933.1	-	5	1910	c.1733G>T	c.(1732-1734)aGa>aTa	p.R578I	TAB3_ENST00000378930.3_Missense_Mutation_p.R578I|TAB3_ENST00000378932.2_Missense_Mutation_p.R578I|TAB3_ENST00000288422.2_Missense_Mutation_p.R578I|TAB3_ENST00000378928.1_Missense_Mutation_p.R29I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	578					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R578I(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTTCATGCTTCTCAATCTTGT	0.373																																					p.R578I	Pancreas(164;1598 1985 29022 43301 49529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1733T	X						.						192.0	160.0	171.0					X																	30864739		2202	4300	6502	30774660	SO:0001583	missense	257397	exon8			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1733G>T	X.37:g.30864739C>A	ENSP00000368215:p.Arg578Ile		30774660	NM_152787	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970344	0.92919	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.97110	1.0;0.991	D	0.91249	0.5028	10	0.87932	D	0	-4.4184	18.0063	0.89210	0.0:1.0:0.0:0.0	.	578;578	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	578;578;578;578;29	ENSP00000368215:R578I;ENSP00000368212:R578I;ENSP00000288422:R578I;ENSP00000368214:R578I	ENSP00000288422:R578I	R	-	2	0	TAB3	30774660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.648000	0.67930	2.186000	0.69663	0.538000	0.68166	AGA		0.373	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
DMD	1756	broad.mit.edu	37	X	31462738	31462738	+	Nonsense_Mutation	SNP	G	G	A	rs128625229		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:31462738G>A	ENST00000357033.4	-	60	9150	c.8944C>T	c.(8944-8946)Cga>Tga	p.R2982*	DMD_ENST00000474231.1_Nonsense_Mutation_p.R522*|DMD_ENST00000378707.3_Nonsense_Mutation_p.R522*|DMD_ENST00000343523.2_Nonsense_Mutation_p.R522*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R2978*|DMD_ENST00000541735.1_Nonsense_Mutation_p.R522*|DMD_ENST00000359836.1_Nonsense_Mutation_p.R522*	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	2982					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)			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)				ATTTCTCCTCGAAGTGCCTGT	0.458																																					p.R522X												.	.	0			c.C1564T	X	GRCh37	CM920238	DMD	M	rs128625229	.						121.0	92.0	102.0					X																	31462738		2202	4300	6502	31372659	SO:0001587	stop_gained	1756	exon17			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.8944C>T	X.37:g.31462738G>A	ENSP00000354923:p.Arg2982*		31372659	NM_004021	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	52|52	18.823957|18.823957	0.99911|0.99911	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	.|.	.|.	.|.	5.64|5.64	3.75|3.75	0.43078|0.43078	.|.	0.000000|.	0.29021|.	U|.	0.013384|.	.|T	.|0.50514	.|0.1620	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59553	.|-0.7433	.|3	0.02654|.	T|.	1|.	.|.	8.5784|8.5784	0.33612|0.33612	0.0:0.144:0.5548:0.3012|0.0:0.144:0.5548:0.3012	.|.	.|.	.|.	.|.	X|L	2974;1641;1638;678;2978;2982;522;522;2982;2859;522;522;522|710	.|.	ENSP00000340057:R522X|.	R|S	-|-	1|2	2|0	DMD|DMD	31372659|31372659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.921000|1.921000	0.40035|0.40035	1.121000|1.121000	0.41925|0.41925	0.594000|0.594000	0.82650|0.82650	CGA|TCG		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32361363	32361363	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:32361363G>T	ENST00000357033.4	-	40	5833	c.5627C>A	c.(5626-5628)tCt>tAt	p.S1876Y	DMD_ENST00000378677.2_Missense_Mutation_p.S1872Y	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	1876	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.S1871Y(1)|p.S1872Y(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)				CCACTGATGAGAAATTTCTAG	0.388																																					p.S535Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1604A	X						.						108.0	98.0	101.0					X																	32361363		2202	4300	6502	32271284	SO:0001583	missense	1756	exon12			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.5627C>A	X.37:g.32361363G>T	ENSP00000354923:p.Ser1876Tyr		32271284	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504634	0.64410	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.59083	0.29;0.29;0.29	5.92	5.92	0.95590	.	0.000000	0.37095	U	0.002258	T	0.58864	0.2152	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.995;0.995	D;D;D;P;P	0.68943	0.961;0.915;0.915;0.88;0.88	T	0.62798	-0.6778	10	0.31617	T	0.26	.	19.2285	0.93827	0.0:0.0:1.0:0.0	.	1868;1876;1872;535;532	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Y	1868;535;532;1872;1876;1876;1753;95	ENSP00000367948:S1872Y;ENSP00000354923:S1876Y;ENSP00000417725:S95Y	ENSP00000354923:S1876Y	S	-	2	0	DMD	32271284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.537000	0.90631	2.493000	0.84123	0.594000	0.82650	TCT		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32662382	32662382	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:32662382G>T	ENST00000357033.4	-	11	1404	c.1198C>A	c.(1198-1200)Cta>Ata	p.L400I	DMD_ENST00000378677.2_Missense_Mutation_p.L396I|MIR548F5_ENST00000408421.1_RNA|DMD_ENST00000288447.4_Missense_Mutation_p.L392I	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	400					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.L396I(1)|p.L395I(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)				CCCAATTGTAGAATATTACCA	0.393																																					p.L400I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1198A	X						.						131.0	112.0	118.0					X																	32662382		2202	4300	6502	32572303	SO:0001583	missense	1756	exon11			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.1198C>A	X.37:g.32662382G>T	ENSP00000354923:p.Leu400Ile		32572303	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990965	0.54041	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.51574	0.7;0.7;0.7	5.73	4.86	0.63082	.	0.000000	0.28036	U	0.016850	T	0.67088	0.2856	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.984;0.999	D;D;D;D	0.87578	0.998;0.996;0.986;0.998	T	0.70773	-0.4781	10	0.59425	D	0.04	.	4.862	0.13588	0.3178:0.0:0.6821:0.0	.	392;392;400;396	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	392;396;400;400;277;392	ENSP00000367948:L396I;ENSP00000354923:L400I;ENSP00000288447:L392I	ENSP00000288447:L392I	L	-	1	2	DMD	32572303	1.000000	0.71417	0.892000	0.35008	0.178000	0.23041	6.121000	0.71602	2.435000	0.82474	0.591000	0.81541	CTA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
FAM47A	158724	broad.mit.edu	37	X	34150200	34150200	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:34150200C>T	ENST00000346193.3	-	1	247	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	66								p.E66K(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						AGAGTATCTTCGGGAGACGGA	0.552																																					p.E66K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G196A	X						.						82.0	79.0	80.0					X																	34150200		2202	4300	6502	34060121	SO:0001583	missense	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.196G>A	X.37:g.34150200C>T	ENSP00000345029:p.Glu66Lys		34060121	NM_203408	A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257576	0.39896	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	1.17	1.17	0.20885	.	.	.	.	.	T	0.14570	0.0352	L	0.46741	1.465	0.09310	N	1	P	0.41159	0.74	B	0.35240	0.198	T	0.14839	-1.0458	9	0.33940	T	0.23	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	66	Q5JRC9	FA47A_HUMAN	K	66	ENSP00000345029:E66K	ENSP00000345029:E66K	E	-	1	0	FAM47A	34060121	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.167000	0.16602	0.880000	0.35969	0.544000	0.68410	GAA		0.552	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
CXorf22	170063	broad.mit.edu	37	X	35993965	35993965	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:35993965C>T	ENST00000297866.5	+	15	2714	c.2648C>T	c.(2647-2649)gCt>gTt	p.A883V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	883								p.A883V(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						AATTGTTGTGCTCAGTTTCAA	0.378																																					p.A883V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2648T	X						.						168.0	151.0	157.0					X																	35993965		2202	4300	6502	35903886	SO:0001583	missense	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.2648C>T	X.37:g.35993965C>T	ENSP00000297866:p.Ala883Val		35903886	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463312	0.26248	.	.	ENSG00000165164	ENST00000297866	T	0.20738	2.05	5.31	4.43	0.53597	.	0.053920	0.64402	N	0.000001	T	0.19327	0.0464	L	0.52905	1.665	0.09310	N	0.999993	P	0.50710	0.938	P	0.45377	0.478	T	0.09400	-1.0676	10	0.02654	T	1	-7.2283	9.8937	0.41304	0.0:0.8943:0.0:0.1057	.	883	Q6ZTR5	CX022_HUMAN	V	883	ENSP00000297866:A883V	ENSP00000297866:A883V	A	+	2	0	CXorf22	35903886	0.417000	0.25432	0.018000	0.16275	0.008000	0.06430	1.143000	0.31553	0.967000	0.38186	0.600000	0.82982	GCT		0.378	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
XK	7504	broad.mit.edu	37	X	37587406	37587406	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:37587406C>A	ENST00000378616.3	+	3	1229	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	342					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.I342I(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGACTGACATCTATATGTATG	0.453																																					p.I342I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1026A	X						.						156.0	139.0	144.0					X																	37587406		2202	4300	6502	37472345	SO:0001819	synonymous_variant	7504	exon3			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1026C>A	X.37:g.37587406C>A			37472345	NM_021083	Q4TTN6|Q8IUK6|Q9UC77	Silent	SNP	ENST00000378616.3	37	CCDS14241.1																																																																																				0.453	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083	
CYBB	1536	broad.mit.edu	37	X	37651246	37651246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:37651246C>T	ENST00000378588.4	+	4	338	c.271C>T	c.(271-273)Cga>Tga	p.R91*	CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Nonsense_Mutation_p.R59*	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	91	Ferric oxidoreductase.				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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.R91*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	AACAAGAGTTCGAAGACAACT	0.383																																					p.R91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C271T	X	GRCh37	CM960436	CYBB	M		.						119.0	104.0	109.0					X																	37651246		2202	4300	6502	37536186	SO:0001587	stop_gained	1536	exon4			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.271C>T	X.37:g.37651246C>T	ENSP00000367851:p.Arg91*		37536186	NM_000397	A8K138|Q2PP16	Nonsense_Mutation	SNP	ENST00000378588.4	37	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	37	6.114353	0.97296	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	.	.	.	5.87	3.96	0.45880	.	0.137493	0.46442	D	0.000295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9743	0.53083	0.5639:0.4361:0.0:0.0	.	.	.	.	X	91;59	.	ENSP00000367851:R91X	R	+	1	2	CYBB	37536186	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	2.097000	0.41748	1.193000	0.43086	0.594000	0.82650	CGA		0.383	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
RPGR	6103	broad.mit.edu	37	X	38158349	38158349	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:38158349G>A	ENST00000339363.3	-	10	1272	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	RPGR_ENST00000378505.2_Missense_Mutation_p.R369C|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Missense_Mutation_p.R369C|RPGR_ENST00000342811.3_Missense_Mutation_p.R369C|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.R369C			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	369					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.R369C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACACCACGATGAGGAGCA	0.403																																					p.R369C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1105T	X						.						97.0	71.0	80.0					X																	38158349		2202	4300	6502	38043293	SO:0001583	missense	6103	exon10			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1105C>T	X.37:g.38158349G>A	ENSP00000343671:p.Arg369Cys		38043293	NM_000328	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37		.	.	.	.	.	.	.	.	.	.	G	15.39	2.820378	0.50633	.	.	ENSG00000156313	ENST00000339363;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T	0.51325	1.3;0.71;2.13;1.31;1.31	5.14	-0.189	0.13260	.	1.778700	0.03233	N	0.179277	T	0.43433	0.1247	N	0.08118	0	0.09310	N	1	D;D	0.63880	0.993;0.992	P;P	0.59703	0.835;0.862	T	0.35992	-0.9766	10	0.56958	D	0.05	.	6.0155	0.19601	0.0729:0.365:0.4345:0.1276	.	369;369	E9PE28;Q92834-2	.;.	C	369	ENSP00000343671:R369C;ENSP00000340208:R369C;ENSP00000322219:R369C;ENSP00000339531:R369C;ENSP00000367766:R369C	ENSP00000322219:R369C	R	-	1	0	RPGR	38043293	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.562000	0.23531	-0.216000	0.10048	-0.235000	0.12190	CGT		0.403	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328	
MID1IP1	58526	broad.mit.edu	37	X	38664317	38664317	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:38664317G>A	ENST00000336949.6	+	2	1063	c.118G>A	c.(118-120)Gac>Aac	p.D40N	MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D40N|MID1IP1_ENST00000378474.3_Missense_Mutation_p.D40N	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	40					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D40N(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CTTGCTGCGCGACGTGCCCCT	0.632																																					p.D40N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G118A	X						.						81.0	55.0	64.0					X																	38664317		2202	4300	6502	38549261	SO:0001583	missense	58526	exon2				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.118G>A	X.37:g.38664317G>A	ENSP00000338706:p.Asp40Asn		38549261	NM_001098791	D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529746	0.85706	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.84	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.79644	0.4481	M	0.85373	2.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.82149	-0.0600	9	0.87932	D	0	-11.9323	11.9075	0.52721	0.0875:0.0:0.9125:0.0	.	40	Q9NPA3	M1IP1_HUMAN	N	40	.	ENSP00000338706:D40N	D	+	1	0	MID1IP1	38549261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.054000	0.93866	1.035000	0.39972	0.529000	0.55759	GAC		0.632	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1		
BCOR	54880	broad.mit.edu	37	X	39914628	39914628	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:39914628G>T	ENST00000378444.4	-	12	4962	c.4734C>A	c.(4732-4734)ttC>ttA	p.F1578L	BCOR_ENST00000397354.3_Missense_Mutation_p.F1544L|BCOR_ENST00000342274.4_Missense_Mutation_p.F1544L|BCOR_ENST00000378463.1_Missense_Mutation_p.F421L|BCOR_ENST00000378455.4_Missense_Mutation_p.F1526L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1578					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F1544L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TACCTGTTAAGAACTTTTCCA	0.378			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.F1544L			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4632A	X						.						96.0	85.0	89.0					X																	39914628		2202	4300	6502	39799572	SO:0001583	missense	54880	exon12			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4734C>A	X.37:g.39914628G>T	ENSP00000367705:p.Phe1578Leu		39799572	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.274207|3.274207	0.59649|0.59649	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018|ENST00000427012	T;T;T;T;T;T;T|.	0.69685|.	-0.42;0.97;1.06;1.04;1.02;1.04;-0.37|.	5.53|5.53	-0.751|-0.751	0.11076|0.11076	Ankyrin repeat-containing domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.68265|0.68265	0.2982|0.2982	M|M	0.72118|0.72118	2.19|2.19	0.51482|0.51482	D|D	0.999926|0.999926	D;D;D|.	0.76494|.	0.999;0.994;0.999|.	D;D;D|.	0.85130|.	0.997;0.977;0.997|.	T|T	0.66101|0.66101	-0.6007|-0.6007	9|5	0.36615|.	T|.	0.2|.	-15.5601|-15.5601	12.2164|12.2164	0.54408|0.54408	0.383:0.0:0.617:0.0|0.383:0.0:0.617:0.0	.|.	1526;1578;1544|.	Q6W2J9-4;Q6W2J9;Q6W2J9-2|.	.;BCOR_HUMAN;.|.	L|Y	448;421;1526;1544;1578;1544;251|273	ENSP00000408006:F448L;ENSP00000367724:F421L;ENSP00000367716:F1526L;ENSP00000380512:F1544L;ENSP00000367705:F1578L;ENSP00000345923:F1544L;ENSP00000387552:F251L|.	ENSP00000345923:F1544L|.	F|S	-|-	3|2	2|0	BCOR|BCOR	39799572|39799572	1.000000|1.000000	0.71417|0.71417	0.203000|0.203000	0.23512|0.23512	0.822000|0.822000	0.46500|0.46500	1.024000|1.024000	0.30077|0.30077	-0.273000|-0.273000	0.09246|0.09246	-0.340000|-0.340000	0.08031|0.08031	TTC|TCT		0.378	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
USP9X	8239	broad.mit.edu	37	X	40996156	40996156	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:40996156A>C	ENST00000324545.8	+	6	1168	c.535A>C	c.(535-537)Aat>Cat	p.N179H	USP9X_ENST00000378308.2_Missense_Mutation_p.N179H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	179					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.N172H(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						CATGGCCTTAAATCCTCATTG	0.428																																					p.N179H	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A535C	X						.						160.0	138.0	145.0					X																	40996156		2203	4300	6503	40881100	SO:0001583	missense	8239	exon6			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.535A>C	X.37:g.40996156A>C	ENSP00000316357:p.Asn179His		40881100	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.394391	0.83011	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04194	3.68;3.68	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.00425	-1.1747	10	0.87932	D	0	.	14.2447	0.65981	1.0:0.0:0.0:0.0	.	179;179	Q93008-1;Q93008	.;USP9X_HUMAN	H	179	ENSP00000367558:N179H;ENSP00000316357:N179H	ENSP00000316357:N179H	N	+	1	0	USP9X	40881100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.743000	0.51761	0.437000	0.28790	AAT		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
EFHC2	80258	broad.mit.edu	37	X	44094668	44094668	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:44094668G>A	ENST00000420999.1	-	9	1389	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	436	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)	p.R436C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GCAAAAAAACGGAGTATATTG	0.348													G|||	1	0.000264901	0.0	0.0014	3775	,	,		13254	0.0		0.0	False		,,,				2504	0.0				p.R436C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1306T	X						.						57.0	51.0	53.0					X																	44094668		1838	4080	5918	43979612	SO:0001583	missense	80258	exon9			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1306C>T	X.37:g.44094668G>A	ENSP00000404232:p.Arg436Cys		43979612	NM_025184	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	14.42|14.42|14.42	2.528607|2.528607|2.528607	0.44969|0.44969|0.44969	.|.|.	.|.|.	ENSG00000183690|ENSG00000183690|ENSG00000183690	ENST00000378056|ENST00000441230|ENST00000333807;ENST00000420999	.|.|T;T	.|.|0.75938	.|.|-0.96;-0.98	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|Uncharacterised domain DM10 (2);	.|.|0.139782	.|.|0.46145	.|.|D	.|.|0.000307	.|D|D	.|0.87245|0.87245	.|0.6129|0.6129	M|M|M	0.84156|0.84156|0.84156	2.68|2.68|2.68	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.81914	.|.|0.995	.|D|D	.|0.88926|0.88926	.|0.3369|0.3369	.|5|10	.|.|0.72032	.|.|D	.|.|0.01	.|-10.7512|-10.7512	16.8203|16.8203|16.8203	0.85744|0.85744|0.85744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|436	.|.|Q5JST6	.|.|EFHC2_HUMAN	.|L|C	-1|416|436;464	.|.|ENSP00000333823:R436C;ENSP00000404232:R464C	.|.|ENSP00000333823:R436C	.|P|R	-|-|-	.|2|1	.|0|0	EFHC2|EFHC2|EFHC2	43979612|43979612|43979612	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.453000|0.453000|0.453000	0.27007|0.27007|0.27007	0.097000|0.097000|0.097000	0.18754|0.18754|0.18754	6.066000|6.066000|6.066000	0.71185|0.71185|0.71185	2.348000|2.348000|2.348000	0.79779|0.79779|0.79779	0.597000|0.597000|0.597000	0.82753|0.82753|0.82753	.|CCG|CGT		0.348	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	
KRBOX4	55634	broad.mit.edu	37	X	46332295	46332295	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:46332295G>A	ENST00000344302.4	+	6	995	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Missense_Mutation_p.E117K|KRBOX4_ENST00000487081.1_3'UTR	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	122					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.E117K(1)									AAGCGGTCAAGAATCCAGAAC	0.398																																					p.E117K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	X						.						105.0	91.0	96.0					X																	46332295		2203	4300	6503	46217239	SO:0001583	missense	55634	exon6				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.364G>A	X.37:g.46332295G>A	ENSP00000345797:p.Glu122Lys		46217239	NM_017776	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	G	9.075	0.997944	0.19043	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00808	5.67;5.85	2.68	2.68	0.31781	.	.	.	.	.	T	0.00998	0.0033	N	0.17474	0.49	0.80722	D	1	P;P	0.41947	0.655;0.766	B;P	0.45971	0.303;0.499	T	0.79669	-0.1707	9	0.19590	T	0.45	.	10.4216	0.44354	0.0:0.0:1.0:0.0	.	122;117	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	K	122;117;122	ENSP00000345797:E122K;ENSP00000298190:E117K	ENSP00000298190:E117K	E	+	1	0	ZNF673	46217239	0.002000	0.14202	0.438000	0.26821	0.455000	0.32408	0.426000	0.21363	1.338000	0.45544	0.422000	0.28245	GAA		0.398	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	NM_017776	
ZNF674	641339	broad.mit.edu	37	X	46359514	46359514	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:46359514T>G	ENST00000523374.1	-	6	1720	c.1510A>C	c.(1510-1512)Aaa>Caa	p.K504Q	ZNF674_ENST00000414387.2_Missense_Mutation_p.K498Q|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						CTGAAGGCTTTTTTACAGTCA	0.403																																					p.K499Q												.	.	0			c.A1495C	X						.						75.0	68.0	70.0					X																	46359514		2166	4278	6444	46244458	SO:0001583	missense	641339	exon6			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1510A>C	X.37:g.46359514T>G	ENSP00000429148:p.Lys504Gln		46244458	NM_001190417	B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776932	0.31411	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.27256	1.68;1.68	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48696	0.1514	M	0.81497	2.545	0.24490	N	0.994305	D;D	0.76494	0.999;0.973	D;P	0.79784	0.993;0.685	T	0.21245	-1.0251	9	0.87932	D	0	.	7.894	0.29695	0.0:0.0:0.0:1.0	.	498;504	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	Q	504;498	ENSP00000429148:K504Q;ENSP00000428248:K498Q	ENSP00000428248:K498Q	K	-	1	0	ZNF674	46244458	0.999000	0.42202	0.022000	0.16811	0.071000	0.16799	3.175000	0.50855	1.193000	0.43086	0.430000	0.28490	AAA		0.403	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
JADE3	9767	broad.mit.edu	37	X	46917620	46917620	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:46917620G>T	ENST00000218343.4	+	11	1911	c.1613G>T	c.(1612-1614)aGa>aTa	p.R538I	PHF16_ENST00000397189.1_Missense_Mutation_p.R538I	NM_014735.3	NP_055550.1												p.R538I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCACCACCAAGAATTACCTTG	0.423																																					p.R538I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1613T	X						.						85.0	81.0	82.0					X																	46917620		2203	4300	6503	46802564	SO:0001583	missense	9767	exon11																														ENST00000218343.4:c.1613G>T	X.37:g.46917620G>T	ENSP00000218343:p.Arg538Ile		46802564	NM_014735		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780948	0.70222	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.56776	0.44;0.44	5.88	5.02	0.67125	.	0.082552	0.85682	D	0.000000	T	0.67702	0.2921	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	D	0.67103	0.949	T	0.68262	-0.5455	10	0.46703	T	0.11	.	14.034	0.64634	0.074:0.0:0.926:0.0	.	538	Q92613	JADE3_HUMAN	I	538	ENSP00000380373:R538I;ENSP00000218343:R538I	ENSP00000218343:R538I	R	+	2	0	PHF16	46802564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.545000	0.82128	1.230000	0.43646	0.600000	0.82982	AGA		0.423	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
CDK16	5127	broad.mit.edu	37	X	47083885	47083885	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:47083885C>T	ENST00000357227.4	+	3	728	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CDK16_ENST00000457458.2_Missense_Mutation_p.R108C|CDK16_ENST00000276052.6_Missense_Mutation_p.R176C|CDK16_ENST00000518022.1_Missense_Mutation_p.R102C	NM_006201.4	NP_006192.1	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	102					exocytosis (GO:0006887)|growth hormone secretion (GO:0030252)|neuron projection development (GO:0031175)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|spermatogenesis (GO:0007283)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein serine/threonine kinase activity (GO:0004674)	p.R102C(2)		breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						AGTGCGTATGCGCAACCATCC	0.587																																					p.R102C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C304T	X						.						106.0	67.0	80.0					X																	47083885		2203	4300	6503	46968829	SO:0001583	missense	5127	exon3				CCDS14276.1, CCDS48101.1, CCDS55408.1	Xp11	2011-11-08	2009-12-16	2009-12-16	ENSG00000102225	ENSG00000102225		"""Cyclin-dependent kinases"""	8749	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase"""	311550	"""PCTAIRE protein kinase 1"""	PCTK1		1437147, 19884882	Standard	NM_033018		Approved	PCTAIRE, PCTAIRE1, PCTGAIRE, FLJ16665	uc011mll.2	Q00536	OTTHUMG00000021438	ENST00000357227.4:c.304C>T	X.37:g.47083885C>T	ENSP00000349762:p.Arg102Cys		46968829	NM_006201	A8K280|B7Z7C8|J3KN74|J3KQP7	Missense_Mutation	SNP	ENST00000357227.4	37	CCDS14276.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911228	0.72983	.	.	ENSG00000102225	ENST00000457458;ENST00000357227;ENST00000519758;ENST00000520893;ENST00000540877;ENST00000540311;ENST00000517426;ENST00000518391;ENST00000518022;ENST00000276052	T;T;T;T;T;T	0.74526	-0.66;-0.65;-0.85;0.43;-0.65;-0.7	5.96	4.17	0.49024	.	0.055231	0.64402	D	0.000002	T	0.81721	0.4882	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	P;P;P;P	0.61275	0.886;0.836;0.799;0.841	T	0.81376	-0.0961	10	0.87932	D	0	-8.4029	9.416	0.38521	0.1435:0.7792:0.0:0.0774	.	176;102;200;102	B7Z7C8;B7Z461;B7Z8T0;Q00536	.;.;.;CDK16_HUMAN	C	108;102;102;102;200;54;102;102;102;176	ENSP00000405798:R108C;ENSP00000349762:R102C;ENSP00000429985:R102C;ENSP00000429044:R102C;ENSP00000429751:R102C;ENSP00000276052:R176C	ENSP00000276052:R176C	R	+	1	0	CDK16	46968829	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.006000	0.29847	0.611000	0.30052	0.600000	0.82982	CGC		0.587	CDK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056406.2	NM_006201	
ARAF	369	broad.mit.edu	37	X	47424488	47424488	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:47424488T>C	ENST00000377045.4	+	5	602	c.408T>C	c.(406-408)tgT>tgC	p.C136C	ARAF_ENST00000377039.2_Silent_p.C136C|ARAF_ENST00000290277.6_Silent_p.C136C	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	136					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.C136C(1)		biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACCAGCATTGTTCCTCCAAGG	0.572																																					p.C136C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T408C	X						.						115.0	85.0	95.0					X																	47424488		2203	4300	6503	47309432	SO:0001819	synonymous_variant	369	exon5			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.408T>C	X.37:g.47424488T>C			47309432	NM_001654	P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	CCDS35232.1																																																																																				0.572	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1		
ZNF81	347344	broad.mit.edu	37	X	47775514	47775514	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:47775514G>T	ENST00000376954.1	+	6	1837	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I			P51508	ZNF81_HUMAN	zinc finger protein 81	490					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.R490I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATGCATAAGAGAATTCATACA	0.408																																					p.R490I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1469T	X						.						43.0	43.0	43.0					X																	47775514		2201	4296	6497	47660458	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.1469G>T	X.37:g.47775514G>T	ENSP00000366153:p.Arg490Ile		47660458	NM_007137	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227190	0.58668	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.24908	1.83;1.83	3.96	3.96	0.45880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34133	N	0.004234	T	0.42223	0.1193	L	0.61218	1.895	0.40405	D	0.979681	D	0.89917	1.0	D	0.79784	0.993	T	0.36016	-0.9765	10	0.62326	D	0.03	.	6.6912	0.23171	0.1278:0.0:0.8722:0.0	.	490	P51508	ZNF81_HUMAN	I	490	ENSP00000366153:R490I;ENSP00000341151:R490I	ENSP00000341151:R490I	R	+	2	0	ZNF81	47660458	0.213000	0.23551	1.000000	0.80357	0.979000	0.70002	2.941000	0.49011	2.237000	0.73441	0.544000	0.68410	AGA		0.408	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNF182	7569	broad.mit.edu	37	X	47836137	47836137	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:47836137C>A	ENST00000396965.1	-	7	1699	c.1349G>T	c.(1348-1350)aGa>aTa	p.R450I	ZNF182_ENST00000376943.3_Missense_Mutation_p.R431I|ZNF182_ENST00000305127.6_Missense_Mutation_p.R450I	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	450					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.R450I(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGAATGAGTTCTCTGATGTAC	0.428																																					p.R450I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1349T	X						.						63.0	56.0	58.0					X																	47836137		2203	4300	6503	47721081	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.1349G>T	X.37:g.47836137C>A	ENSP00000380165:p.Arg450Ile		47721081	NM_006962	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815093	0.50527	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.02446	4.29;4.29;4.29	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	L	0.58354	1.805	0.47737	D	0.999507	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.00589	-1.1656	9	0.87932	D	0	.	7.5705	0.27904	0.0:0.8823:0.0:0.1177	.	430;431;450	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	I	431;450;450	ENSP00000366142:R431I;ENSP00000380165:R450I;ENSP00000306351:R450I	ENSP00000306351:R450I	R	-	2	0	ZNF182	47721081	0.005000	0.15991	0.999000	0.59377	0.977000	0.68977	1.826000	0.39092	2.208000	0.71279	0.544000	0.68410	AGA		0.428	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962	
WDR13	64743	broad.mit.edu	37	X	48458814	48458814	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:48458814C>T	ENST00000218056.5	+	5	1136	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	WDR13_ENST00000376729.5_Missense_Mutation_p.R211C	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	211						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CACAGTGCTTCGCGTGCTACG	0.647																																					p.R119C												.	.	0			c.C355T	X						.						96.0	61.0	73.0					X																	48458814		2203	4300	6503	48343758	SO:0001583	missense	64743	exon4			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.631C>T	X.37:g.48458814C>T	ENSP00000218056:p.Arg211Cys		48343758	NM_001166426	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720249	0.30503	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.67171	-0.25;-0.25	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.307062	0.36778	N	0.002418	T	0.57844	0.2081	L	0.35723	1.085	0.39456	D	0.967488	B;B	0.10296	0.003;0.001	B;B	0.10450	0.004;0.005	T	0.57201	-0.7852	10	0.44086	T	0.13	-9.7846	14.6671	0.68915	0.0:1.0:0.0:0.0	.	89;211	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	C	211	ENSP00000365919:R211C;ENSP00000218056:R211C	ENSP00000218056:R211C	R	+	1	0	WDR13	48343758	1.000000	0.71417	0.850000	0.33497	0.421000	0.31385	3.550000	0.53691	2.044000	0.60594	0.436000	0.28706	CGC		0.647	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		
WDR13	64743	broad.mit.edu	37	X	48460469	48460469	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:48460469C>A	ENST00000218056.5	+	7	1534	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	WDR13_ENST00000376729.5_Silent_p.A343A	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	343						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A343A(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TGACCAAAGCCAAGCGTTTGG	0.647																																					p.A251A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C753A	X						.						70.0	53.0	59.0					X																	48460469		2203	4300	6503	48345413	SO:0001819	synonymous_variant	64743	exon6			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1029C>A	X.37:g.48460469C>A			48345413	NM_001166426	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	ENST00000218056.5	37	CCDS14302.1																																																																																				0.647	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2		
GRIPAP1	56850	broad.mit.edu	37	X	48847485	48847485	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:48847485G>T	ENST00000376441.1	-	7	529	c.495C>A	c.(493-495)ttC>ttA	p.F165L	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.F120L|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.F165L|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.F112L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	165						blood microparticle (GO:0072562)|endosome (GO:0005768)		p.F165L(1)|p.F112L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGACAGCTGAGAACTTCCCGG	0.612																																					p.F165L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C495A	X						.						31.0	28.0	29.0					X																	48847485		2203	4297	6500	48732429	SO:0001583	missense	56850	exon7			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.495C>A	X.37:g.48847485G>T	ENSP00000365624:p.Phe165Leu		48732429	NM_020137	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243320	0.05906	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.6	-0.616	0.11583	.	1.418770	0.04137	N	0.318921	T	0.09992	0.0245	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.003;0.004;0.003	T	0.25813	-1.0121	10	0.25751	T	0.34	7.0375	3.6516	0.08205	0.223:0.0:0.3963:0.3807	.	112;55;165	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	L	165;120;165;165;112	ENSP00000365608:F165L;ENSP00000365627:F120L;ENSP00000365624:F165L;ENSP00000365606:F112L	ENSP00000365606:F112L	F	-	3	2	GRIPAP1	48732429	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.173000	0.16724	-0.116000	0.11893	-0.255000	0.11280	TTC		0.612	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
CLCN5	1184	broad.mit.edu	37	X	49851224	49851224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:49851224G>T	ENST00000307367.2	+	8	1335	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	CLCN5_ENST00000376088.3_Missense_Mutation_p.K418N|CLCN5_ENST00000376108.3_Missense_Mutation_p.K348N|CLCN5_ENST00000376091.3_Missense_Mutation_p.K418N			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	348					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.K348N(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GGAAGCGAAAGACCACCCAGT	0.507																																					p.K418N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1254T	X						.						110.0	87.0	95.0					X																	49851224		2203	4300	6503	49737964	SO:0001583	missense	1184	exon11			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1044G>T	X.37:g.49851224G>T	ENSP00000304257:p.Lys348Asn		49737964	NM_001127899	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913937	0.52439	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.7	3.91	0.45181	Chloride channel, core (2);	0.044743	0.85682	D	0.000000	D	0.94666	0.8280	M	0.73372	2.23	0.58432	D	0.999999	B;P	0.51351	0.148;0.944	B;P	0.52957	0.232;0.714	D	0.92749	0.6214	10	0.56958	D	0.05	0.1161	7.8198	0.29282	0.2691:0.0:0.7309:0.0	.	348;418	P51795;P51795-2	CLCN5_HUMAN;.	N	418;250;418;348;348	ENSP00000365256:K418N;ENSP00000365259:K418N;ENSP00000365276:K348N;ENSP00000304257:K348N	ENSP00000304257:K348N	K	+	3	2	CLCN5	49737964	1.000000	0.71417	0.984000	0.44739	0.791000	0.44710	4.145000	0.58065	0.561000	0.29186	0.436000	0.28706	AAG		0.507	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
AKAP4	8852	broad.mit.edu	37	X	49961560	49961560	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:49961560C>A	ENST00000376056.2	-	4	381	c.231G>T	c.(229-231)gaG>gaT	p.E77D	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.E86D|AKAP4_ENST00000376058.2_Missense_Mutation_p.E77D|AKAP4_ENST00000376064.3_Missense_Mutation_p.E77D					A kinase (PRKA) anchor protein 4									p.E86D(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGTCTTTCTTCTCAGTGTCCT	0.438																																					p.E86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	X						.						248.0	194.0	213.0					X																	49961560		2203	4300	6503	49848300	SO:0001583	missense	8852	exon4			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.231G>T	X.37:g.49961560C>A	ENSP00000365224:p.Glu77Asp		49848300	NM_003886		Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669276	0.29604	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.57	-0.672	0.11377	.	0.000000	0.40222	N	0.001155	T	0.26666	0.0652	M	0.68317	2.08	0.20196	N	0.999925	B;B	0.32467	0.048;0.372	B;B	0.26969	0.015;0.075	T	0.12091	-1.0561	9	.	.	.	-6.9981	4.4576	0.11650	0.0:0.4341:0.1601:0.4059	.	86;77	Q5JQC9;A6ND82	AKAP4_HUMAN;.	D	77;77;86;77;77;77	ENSP00000365224:E77D;ENSP00000365226:E77D;ENSP00000351327:E86D;ENSP00000365232:E77D;ENSP00000402403:E77D;ENSP00000412279:E77D	.	E	-	3	2	AKAP4	49848300	0.998000	0.40836	0.904000	0.35570	0.635000	0.38103	0.160000	0.16462	-0.587000	0.05890	0.513000	0.50165	GAG		0.438	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
CCNB3	85417	broad.mit.edu	37	X	50053969	50053969	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:50053969A>C	ENST00000376042.1	+	6	3098	c.2800A>C	c.(2800-2802)Aat>Cat	p.N934H	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.N934H|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	934					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.N934H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATAGCTCTGAATGAGAAACC	0.453																																					p.N934H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2800C	X						.						85.0	79.0	81.0					X																	50053969		2203	4300	6503	50070709	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2800A>C	X.37:g.50053969A>C	ENSP00000365210:p.Asn934His		50070709	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	7.073	0.568681	0.13560	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.17854	2.25;2.25	3.34	-6.67	0.01783	.	37.836400	0.00166	N	0.000000	T	0.17323	0.0416	L	0.38175	1.15	0.09310	N	1	D	0.61080	0.989	P	0.47673	0.554	T	0.40156	-0.9578	9	.	.	.	.	9.5556	0.39337	0.1643:0.6368:0.1989:0.0	.	934	Q8WWL7	CCNB3_HUMAN	H	934	ENSP00000365210:N934H;ENSP00000276014:N934H	.	N	+	1	0	CCNB3	50070709	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.549000	0.00217	-2.529000	0.00492	-0.496000	0.04628	AAT		0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
NUDT11	55190	broad.mit.edu	37	X	51239150	51239150	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:51239150G>A	ENST00000375992.3	-	1	298	c.147C>T	c.(145-147)ggC>ggT	p.G49G		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	49	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.G49G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCATGCCCCCGCCCGGCACGA	0.687										HNSCC(48;0.14)																											p.G49G	GBM(38;198 791 1498 11752 13599)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	X						.						15.0	19.0	18.0					X																	51239150		2178	4263	6441	51255890	SO:0001819	synonymous_variant	55190	exon1			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.147C>T	X.37:g.51239150G>A			51255890	NM_018159	Q9NVN0	Silent	SNP	ENST00000375992.3	37	CCDS43952.1																																																																																				0.687	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1		
PHF8	23133	broad.mit.edu	37	X	54040961	54040961	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54040961C>T	ENST00000357988.5	-	7	1098	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	PHF8_ENST00000338154.6_Missense_Mutation_p.R211Q|PHF8_ENST00000322659.8_Missense_Mutation_p.R211Q|PHF8_ENST00000338946.6_Missense_Mutation_p.R211Q	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	247	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R211Q(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGACAGCTTTCGAACAATCTT	0.463																																					p.R211Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632A	X						.						111.0	74.0	86.0					X																	54040961		2203	4300	6503	54057686	SO:0001583	missense	23133	exon7			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.740G>A	X.37:g.54040961C>T	ENSP00000350676:p.Arg247Gln		54057686	NM_001184898	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353794|4.353794	0.82243|0.82243	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.056066	.|0.64402	.|D	.|0.000001	T|T	0.67258|0.67258	0.2874|0.2874	L|L	0.46947|0.46947	1.48|1.48	0.58432|0.58432	D|D	0.999999|0.999999	.|P;P;D	.|0.62365	.|0.862;0.915;0.991	.|B;B;B	.|0.43331	.|0.059;0.125;0.416	T|T	0.70335|0.70335	-0.4900|-0.4900	5|10	.|0.45353	.|T	.|0.12	-10.2179|-10.2179	16.8548|16.8548	0.86003|0.86003	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|211;247;247	.|B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;PHF8_HUMAN	K|Q	115|247;211;211;241;211	.|ENSP00000350676:R247Q;ENSP00000338868:R211Q;ENSP00000340051:R211Q;ENSP00000319473:R211Q	.|ENSP00000319473:R211Q	E|R	-|-	1|2	0|0	PHF8|PHF8	54057686|54057686	0.975000|0.975000	0.34042|0.34042	0.999000|0.999000	0.59377|0.59377	0.967000|0.967000	0.64934|0.64934	2.725000|2.725000	0.47294|0.47294	2.241000|2.241000	0.73720|0.73720	0.494000|0.494000	0.49563|0.49563	GAA|CGA		0.463	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
WNK3	65267	broad.mit.edu	37	X	54337635	54337635	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54337635A>C	ENST00000375159.2	-	2	626	c.627T>G	c.(625-627)ttT>ttG	p.F209L	WNK3_ENST00000375169.3_Missense_Mutation_p.F209L|WNK3_ENST00000354646.2_Missense_Mutation_p.F209L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	209	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.F209L(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						AGGAATCATAAAATCGAACTA	0.388																																					p.F209L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T627G	X						.						103.0	91.0	95.0					X																	54337635		2203	4300	6503	54354360	SO:0001583	missense	65267	exon3			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.627T>G	X.37:g.54337635A>C	ENSP00000364301:p.Phe209Leu		54354360	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887238	0.72410	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.17054	2.3;2.3;2.3	5.18	1.41	0.22369	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	0.000014	T	0.20618	0.0496	N	0.17594	0.5	0.34655	D	0.722098	D;D	0.58620	0.983;0.969	D;D	0.68192	0.925;0.956	T	0.20338	-1.0278	10	0.59425	D	0.04	-14.78	8.67	0.34145	0.7446:0.0:0.2554:0.0	.	209;209	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	L	209	ENSP00000364312:F209L;ENSP00000346667:F209L;ENSP00000364301:F209L	ENSP00000346667:F209L	F	-	3	2	WNK3	54354360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.856000	0.39389	0.233000	0.21120	0.486000	0.48141	TTT		0.388	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
TSR2	90121	broad.mit.edu	37	X	54470951	54470951	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54470951G>T	ENST00000375151.4	+	5	565	c.544G>T	c.(544-546)Gat>Tat	p.D182Y		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	182					rRNA processing (GO:0006364)					breast(1)|endometrium(3)|lung(2)	6						TATAGTGGAAGATGGCTGGAC	0.488																																					p.D182Y												.	.	0			c.G544T	X						.						69.0	64.0	66.0					X																	54470951		2203	4300	6503	54487676	SO:0001583	missense	90121	exon5			BC007699	CCDS14358.1	Xp11.22	2008-10-01			ENSG00000158526	ENSG00000158526			25455	protein-coding gene	gene with protein product	"""WGG motif containing 1"""					9417904	Standard	NM_058163		Approved	DT1P1A10, RP1-112K5.2, WGG1	uc004dte.3	Q969E8	OTTHUMG00000021628	ENST00000375151.4:c.544G>T	X.37:g.54470951G>T	ENSP00000364293:p.Asp182Tyr		54487676	NM_058163		Missense_Mutation	SNP	ENST00000375151.4	37	CCDS14358.1	.	.	.	.	.	.	.	.	.	.	g	16.68	3.189241	0.57909	.	.	ENSG00000158526	ENST00000375151	.	.	.	4.58	4.58	0.56647	.	0.117229	0.56097	D	0.000035	T	0.64821	0.2633	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.68887	-0.5290	9	0.87932	D	0	-11.9112	14.0153	0.64521	0.0:0.0:1.0:0.0	.	182	Q969E8	TSR2_HUMAN	Y	182	.	ENSP00000364293:D182Y	D	+	1	0	TSR2	54487676	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.128000	0.64733	2.271000	0.75665	0.591000	0.81541	GAT		0.488	TSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056802.1	NM_058163	
FGD1	2245	broad.mit.edu	37	X	54495270	54495270	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54495270G>A	ENST00000375135.3	-	5	1874	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	381	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|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.L381F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTTTGCAGGAGCTCATTGGCA	0.542																																					p.L381F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1141T	X						.						109.0	75.0	87.0					X																	54495270		2203	4300	6503	54511995	SO:0001583	missense	2245	exon5			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1141C>T	X.37:g.54495270G>A	ENSP00000364277:p.Leu381Phe		54511995	NM_004463	Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482897	0.84747	.	.	ENSG00000102302	ENST00000375135	T	0.78246	-1.16	5.33	5.33	0.75918	Dbl homology (DH) domain (5);	0.000000	0.46145	D	0.000310	D	0.90556	0.7040	M	0.91038	3.17	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92741	0.6208	10	0.87932	D	0	-19.468	16.8196	0.85742	0.0:0.0:1.0:0.0	.	139;381	B4DS99;P98174	.;FGD1_HUMAN	F	381	ENSP00000364277:L381F	ENSP00000364277:L381F	L	-	1	0	FGD1	54511995	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.696000	0.84270	2.232000	0.73038	0.422000	0.28245	CTC		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
MAGED2	10916	broad.mit.edu	37	X	54841721	54841721	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54841721G>A	ENST00000375068.1	+	12	1660	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	MAGED2_ENST00000375058.1_Missense_Mutation_p.R476Q|MAGED2_ENST00000347546.4_Missense_Mutation_p.R458Q|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.R391Q|MAGED2_ENST00000375062.4_Missense_Mutation_p.R391Q|MAGED2_ENST00000396224.1_Missense_Mutation_p.R476Q|MAGED2_ENST00000375053.2_Missense_Mutation_p.R476Q|MAGED2_ENST00000218439.4_Missense_Mutation_p.R476Q			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	476	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.R476Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCTCAGTACCGAGAGGCGATG	0.507													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14098	0.0		0.0	False		,,,				2504	0.0				p.R476Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	X						.						41.0	41.0	41.0					X																	54841721		2202	4298	6500	54858446	SO:0001583	missense	10916	exon12			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1427G>A	X.37:g.54841721G>A	ENSP00000364209:p.Arg476Gln		54858446	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030460	0.35797	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.44482	4.06;4.06;4.15;4.06;0.92;4.06;4.06;0.92;4.06	4.73	3.84	0.44239	.	0.000000	0.37012	N	0.002288	T	0.21881	0.0527	N	0.14661	0.345	0.33789	D	0.625204	B;B	0.33494	0.274;0.414	B;B	0.31101	0.087;0.124	T	0.27226	-1.0080	10	0.34782	T	0.22	.	7.1708	0.25717	0.2031:0.0:0.7969:0.0	.	391;476	Q5H907;Q9UNF1	.;MAGD2_HUMAN	Q	476;476;420;458;391;476;476;391;476	ENSP00000364209:R476Q;ENSP00000364193:R476Q;ENSP00000336962:R420Q;ENSP00000340290:R458Q;ENSP00000364202:R391Q;ENSP00000218439:R476Q;ENSP00000364198:R476Q;ENSP00000364200:R391Q;ENSP00000379526:R476Q	ENSP00000218439:R476Q	R	+	2	0	MAGED2	54858446	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.314000	0.33597	2.098000	0.63641	0.513000	0.50165	CGA		0.507	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	
TRO	7216	broad.mit.edu	37	X	54956783	54956783	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54956783T>C	ENST00000173898.7	+	12	3738	c.3626T>C	c.(3625-3627)tTt>tCt	p.F1209S	TRO_ENST00000375041.2_Missense_Mutation_p.F812S|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.F740S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1209	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F1209S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATGCTGGATTTGGTGGTGGA	0.542																																					p.F1209S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3626C	X						.						58.0	57.0	57.0					X																	54956783		2061	4183	6244	54973508	SO:0001583	missense	7216	exon12			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3626T>C	X.37:g.54956783T>C	ENSP00000173898:p.Phe1209Ser		54973508	NM_001039705	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883577	0.33255	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.09445	2.98;2.98;2.98	2.62	1.44	0.22558	.	.	.	.	.	T	0.20129	0.0484	L	0.50333	1.59	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66979	0.925;0.948	T	0.10245	-1.0638	9	0.87932	D	0	.	3.8587	0.08986	0.0:0.1871:0.0:0.8129	.	812;1209	B1AKE9;Q12816	.;TROP_HUMAN	S	1209;740;812	ENSP00000173898:F1209S;ENSP00000405126:F740S;ENSP00000364181:F812S	ENSP00000173898:F1209S	F	+	2	0	TRO	54973508	0.000000	0.05858	0.012000	0.15200	0.011000	0.07611	-0.188000	0.09642	0.307000	0.22880	0.376000	0.23039	TTT		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
PFKFB1	5207	broad.mit.edu	37	X	54982637	54982637	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:54982637C>A	ENST00000375006.3	-	7	657	c.587G>T	c.(586-588)aGa>aTa	p.R196I	PFKFB1_ENST00000545676.1_Missense_Mutation_p.R131I|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	196	6-phosphofructo-2-kinase.				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.R196I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCACTCAATTCTCTTTAGAAA	0.473																																					p.R196I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G587T	X						.						112.0	94.0	100.0					X																	54982637		2203	4300	6503	54999362	SO:0001583	missense	5207	exon7				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.587G>T	X.37:g.54982637C>A	ENSP00000364145:p.Arg196Ile		54999362	NM_002625	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419189	0.83559	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.65	3.78	0.43462	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91743	0.5406	9	0.87932	D	0	-12.7489	12.8287	0.57735	0.1655:0.8345:0.0:0.0	.	131;196	B4DUN5;P16118	.;F261_HUMAN	I	196;131	.	ENSP00000364145:R196I	R	-	2	0	PFKFB1	54999362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.585000	0.82584	1.037000	0.40024	0.600000	0.82982	AGA		0.473	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
AMER1	139285	broad.mit.edu	37	X	63411546	63411546	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:63411546T>G	ENST00000330258.3	-	2	1893	c.1621A>C	c.(1621-1623)Aac>Cac	p.N541H	AMER1_ENST00000403336.1_Missense_Mutation_p.N541H|AMER1_ENST00000374869.3_Missense_Mutation_p.N541H	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	541					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.N541H(2)									GGCTCAAAGTTTAAGAAGGGG	0.507																																					p.N541H												.	.	69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.A1621C	X						.						51.0	50.0	50.0					X																	63411546		2203	4300	6503	63328271	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.1621A>C	X.37:g.63411546T>G	ENSP00000329117:p.Asn541His		63328271	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414861	0.25465	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.50813	0.74;0.73;0.74	4.97	2.49	0.30216	.	0.538293	0.18503	N	0.139295	T	0.36276	0.0961	L	0.51422	1.61	0.29095	N	0.881838	P	0.47350	0.894	B	0.41723	0.365	T	0.43540	-0.9385	10	0.72032	D	0.01	-6.73	2.2698	0.04087	0.2311:0.3455:0.0:0.4234	.	541	Q5JTC6	F123B_HUMAN	H	541	ENSP00000364003:N541H;ENSP00000329117:N541H;ENSP00000384722:N541H	ENSP00000329117:N541H	N	-	1	0	FAM123B	63328271	1.000000	0.71417	0.998000	0.56505	0.299000	0.27559	1.363000	0.34159	0.851000	0.35264	0.486000	0.48141	AAC		0.507	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
AMER1	139285	broad.mit.edu	37	X	63412118	63412118	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:63412118C>T	ENST00000330258.3	-	2	1321	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K	AMER1_ENST00000403336.1_Missense_Mutation_p.R350K|AMER1_ENST00000374869.3_Missense_Mutation_p.R350K	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	350					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.R350K(2)									TCGGTTTGCTCTCTGGCCCCC	0.522																																					p.R350K												.	.	69	Whole gene deletion(67)|Substitution - Missense(2)	kidney(65)|large_intestine(3)|ovary(1)	c.G1049A	X						.						160.0	141.0	148.0					X																	63412118		2203	4300	6503	63328843	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.1049G>A	X.37:g.63412118C>T	ENSP00000329117:p.Arg350Lys		63328843	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238688	0.58995	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.16457	2.34;2.34;2.34	5.18	5.18	0.71444	.	0.089481	0.49916	D	0.000132	T	0.21347	0.0514	N	0.20685	0.6	0.38599	D	0.950611	D	0.55385	0.971	P	0.62435	0.902	T	0.05852	-1.0860	10	0.14656	T	0.56	-17.0043	12.991	0.58618	0.0:1.0:0.0:0.0	.	350	Q5JTC6	F123B_HUMAN	K	350	ENSP00000364003:R350K;ENSP00000329117:R350K;ENSP00000384722:R350K	ENSP00000329117:R350K	R	-	2	0	FAM123B	63328843	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.979000	0.40608	2.566000	0.86566	0.529000	0.55759	AGA		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
ZC3H12B	340554	broad.mit.edu	37	X	64719098	64719098	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:64719098C>A	ENST00000338957.4	+	3	1035	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S312Y	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	323							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.S173Y(1)|p.S259Y(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGATGTATTCTTTTGTGAAT	0.363																																					p.S323Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C968A	X						.						44.0	40.0	41.0					X																	64719098		1859	4099	5958	64635823	SO:0001583	missense	340554	exon3			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.968C>A	X.37:g.64719098C>A	ENSP00000340839:p.Ser323Tyr		64635823	NM_001010888	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626721	0.66901	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.47528	0.84;0.84	5.19	5.19	0.71726	Ribonuclease Zc3h12a-like (1);	0.118510	0.64402	D	0.000015	T	0.76176	0.3951	M	0.92833	3.35	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.83129	-0.0114	10	0.87932	D	0	-17.2949	16.3038	0.82841	0.0:1.0:0.0:0.0	.	312	Q5HYM0	ZC12B_HUMAN	Y	323;312;259	ENSP00000340839:S323Y;ENSP00000408077:S312Y	ENSP00000218172:S259Y	S	+	2	0	ZC3H12B	64635823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.828000	0.69307	2.159000	0.67721	0.513000	0.50165	TCT		0.363	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
MSN	4478	broad.mit.edu	37	X	64951737	64951737	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:64951737G>T	ENST00000360270.5	+	6	761	c.589G>T	c.(589-591)Gat>Tat	p.D197Y		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	197	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.D197Y(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						GATTGCTCAAGATCTGGAGAT	0.493			T	ALK	ALCL																																p.D197Y			Dom	yes		X	Xq11.2-q12	4478	moesin		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G589T	X						.						149.0	128.0	135.0					X																	64951737		2203	4300	6503	64868462	SO:0001583	missense	4478	exon6			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.589G>T	X.37:g.64951737G>T	ENSP00000353408:p.Asp197Tyr		64868462	NM_002444		Missense_Mutation	SNP	ENST00000360270.5	37	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865441	0.91511	.	.	ENSG00000147065	ENST00000360270	D	0.83335	-1.71	5.92	5.92	0.95590	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94275	0.8161	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95765	0.8804	10	0.87932	D	0	.	17.6359	0.88122	0.0:0.0:1.0:0.0	.	197	P26038	MOES_HUMAN	Y	197	ENSP00000353408:D197Y	ENSP00000353408:D197Y	D	+	1	0	MSN	64868462	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.760000	0.98935	2.492000	0.84095	0.600000	0.82982	GAT		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	
HEPH	9843	broad.mit.edu	37	X	65480093	65480093	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:65480093T>G	ENST00000343002.2	+	18	3852	c.3188T>G	c.(3187-3189)tTt>tGt	p.F1063C	HEPH_ENST00000374727.3_Missense_Mutation_p.F1066C|HEPH_ENST00000519389.1_Missense_Mutation_p.F1117C|HEPH_ENST00000419594.1_Missense_Mutation_p.F874C|HEPH_ENST00000336279.5_Missense_Mutation_p.F796C|HEPH_ENST00000441993.2_Missense_Mutation_p.F1066C			Q9BQS7	HEPH_HUMAN	hephaestin	1063	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.F1063C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCACTGTTTTTTCTCGAACA	0.473																																					p.F1066C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3197G	X						.						94.0	76.0	82.0					X																	65480093		2203	4300	6503	65396818	SO:0001583	missense	9843	exon19			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3188T>G	X.37:g.65480093T>G	ENSP00000343939:p.Phe1063Cys		65396818	NM_001130860	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.100731	0.76983	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	4.81	4.81	0.61882	Cupredoxin (2);	0.891873	0.09660	N	0.772529	D	0.99127	0.9699	N	0.14661	0.345	0.46981	D	0.999271	P;D;P	0.57257	0.711;0.979;0.88	P;D;P	0.67231	0.704;0.95;0.838	D	0.96502	0.9372	10	0.62326	D	0.03	.	10.7601	0.46259	0.0:0.0:0.0:1.0	.	1117;874;1063	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	C	1117;1066;796;1066;874;1063	ENSP00000430620:F1117C;ENSP00000363859:F1066C;ENSP00000337418:F796C;ENSP00000411687:F1066C;ENSP00000413211:F874C;ENSP00000343939:F1063C	ENSP00000337418:F796C	F	+	2	0	HEPH	65396818	0.453000	0.25721	0.055000	0.19348	0.444000	0.32077	5.349000	0.66010	1.770000	0.52166	0.486000	0.48141	TTT		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
OPHN1	4983	broad.mit.edu	37	X	67421471	67421471	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:67421471T>C	ENST00000355520.5	-	11	1656	c.1015A>G	c.(1015-1017)Act>Gct	p.T339A	OPHN1_ENST00000540071.1_Missense_Mutation_p.T339A	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	339	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.T339A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CTTTCATTAGTTTCTATGTCA	0.458																																					p.T339A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1015G	X						.						184.0	139.0	154.0					X																	67421471		2203	4300	6503	67338196	SO:0001583	missense	4983	exon11			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1015A>G	X.37:g.67421471T>C	ENSP00000347710:p.Thr339Ala		67338196	NM_002547	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	3.464	-0.109274	0.06924	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.48201	0.82;0.82	4.82	3.6	0.41247	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.050839	0.85682	N	0.000000	T	0.22627	0.0546	N	0.12637	0.245	0.50467	D	0.999873	B;B	0.10296	0.001;0.003	B;B	0.08055	0.002;0.003	T	0.13282	-1.0515	10	0.02654	T	1	.	8.161	0.31198	0.0:0.0988:0.0:0.9012	.	339;339	F5H2E3;O60890	.;OPHN1_HUMAN	A	339	ENSP00000347710:T339A;ENSP00000438617:T339A	ENSP00000347710:T339A	T	-	1	0	OPHN1	67338196	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.512000	0.53407	0.731000	0.32448	0.486000	0.48141	ACT		0.458	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
OPHN1	4983	broad.mit.edu	37	X	67652711	67652711	+	Missense_Mutation	SNP	C	C	A	rs374573197		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:67652711C>A	ENST00000355520.5	-	2	793	c.152G>T	c.(151-153)aGa>aTa	p.R51I	OPHN1_ENST00000540071.1_Missense_Mutation_p.R51I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	51					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R51I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCACTTACTTCTCATAGCGCT	0.507																																					p.R51I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152T	X						.						167.0	129.0	142.0					X																	67652711		2203	4300	6503	67569436	SO:0001583	missense	4983	exon2			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.152G>T	X.37:g.67652711C>A	ENSP00000347710:p.Arg51Ile		67569436	NM_002547	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989052	0.35131	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.31510	1.49;1.49	4.59	3.73	0.42828	IRSp53/MIM homology domain (IMD) (1);	0.323521	0.32719	N	0.005727	T	0.27559	0.0677	M	0.64404	1.975	0.58432	D	0.999999	P;B;B	0.44195	0.828;0.38;0.396	B;B;B	0.38842	0.282;0.283;0.133	T	0.08066	-1.0740	10	0.87932	D	0	.	6.4549	0.21924	0.0:0.7767:0.0:0.2233	.	51;51;51	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	I	51	ENSP00000347710:R51I;ENSP00000438617:R51I	ENSP00000347710:R51I	R	-	2	0	OPHN1	67569436	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	1.664000	0.37439	1.066000	0.40716	-0.322000	0.08575	AGA		0.507	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	
IGBP1	3476	broad.mit.edu	37	X	69366635	69366635	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:69366635A>G	ENST00000342206.6	+	3	1134	c.635A>G	c.(634-636)gAc>gGc	p.D212G	IGBP1_ENST00000356413.4_Missense_Mutation_p.D212G|IGBP1-AS2_ENST00000403371.2_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	212					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)	p.D212G(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGAGCATTGACCAGGAAATA	0.423																																					p.D212G	NSCLC(167;1189 1558 6576 8216 30387 37980 41450)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A635G	X						.						62.0	52.0	55.0					X																	69366635		2203	4300	6503	69283360	SO:0001583	missense	3476	exon4			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.635A>G	X.37:g.69366635A>G	ENSP00000363661:p.Asp212Gly		69283360	NM_001551	Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	18.10	3.548764	0.65311	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.42900	0.96;0.96	5.14	5.14	0.70334	.	0.133510	0.64402	D	0.000002	T	0.56834	0.2012	L	0.58969	1.84	0.50313	D	0.999864	D	0.69078	0.997	D	0.63957	0.92	T	0.60591	-0.7233	10	0.87932	D	0	.	11.9037	0.52699	1.0:0.0:0.0:0.0	.	212	P78318	IGBP1_HUMAN	G	212	ENSP00000363661:D212G;ENSP00000348784:D212G	ENSP00000363661:D212G	D	+	2	0	IGBP1	69283360	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.194000	0.72082	2.014000	0.59158	0.481000	0.45027	GAC		0.423	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1		
ARR3	407	broad.mit.edu	37	X	69502681	69502681	+	IGR	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:69502681G>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Missense_Mutation_p.K71N|RAB41_ENST00000276066.4_Missense_Mutation_p.K70N	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.K71N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTTGTCTAAGACCATGTACT	0.433																																					p.K70N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	X						.						205.0	166.0	179.0					X																	69502681		2203	4300	6503	69419406	SO:0001628	intergenic_variant	347517	exon3				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502681G>T			69419406	NM_001032726	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782134	0.49891	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.81415	-1.49;-1.23;-1.23	4.22	1.35	0.21983	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000010	D	0.88851	0.6549	M	0.91717	3.235	0.32811	D	0.501445	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.86784	0.1981	10	0.87932	D	0	.	4.711	0.12872	0.3098:0.1604:0.5298:0.0	.	70;71	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	N	20;71;70	ENSP00000421643:K20N;ENSP00000363597:K71N;ENSP00000276066:K70N	ENSP00000276066:K70N	K	+	3	2	RAB41	69419406	1.000000	0.71417	0.005000	0.12908	0.842000	0.47809	0.948000	0.29096	0.047000	0.15862	0.513000	0.50165	AAG		0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
KIF4A	24137	broad.mit.edu	37	X	69518977	69518977	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:69518977A>C	ENST00000374403.3	+	5	523	c.441A>C	c.(439-441)gaA>gaC	p.E147D	KIF4A_ENST00000374388.3_Missense_Mutation_p.E147D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	147	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E147D(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAATGAAGAAATTTTGGATC	0.338																																					p.E147D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A441C	X						.						69.0	60.0	63.0					X																	69518977		2203	4298	6501	69435702	SO:0001583	missense	24137	exon5			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.441A>C	X.37:g.69518977A>C	ENSP00000363524:p.Glu147Asp		69435702	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.776401	0.31411	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.76060	-0.99;-0.99	4.59	3.46	0.39613	Kinesin, motor domain (4);	0.466172	0.17947	N	0.156657	T	0.58652	0.2137	L	0.37850	1.14	0.29910	N	0.823641	B;B	0.17465	0.022;0.016	B;B	0.24974	0.057;0.026	T	0.53592	-0.8417	10	0.44086	T	0.13	.	0.1735	0.00116	0.3639:0.2348:0.1681:0.2332	.	147;147	O95239;O95239-2	KIF4A_HUMAN;.	D	147	ENSP00000363509:E147D;ENSP00000363524:E147D	ENSP00000363509:E147D	E	+	3	2	KIF4A	69435702	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.506000	0.22658	1.533000	0.49186	0.435000	0.28638	GAA		0.338	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
GDPD2	54857	broad.mit.edu	37	X	69644908	69644908	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:69644908A>C	ENST00000374382.3	+	2	325	c.74A>C	c.(73-75)aAa>aCa	p.K25T	GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000453994.2_Missense_Mutation_p.K25T|GDPD2_ENST00000536730.1_Intron	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	25					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.K25T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACTGGAGGAAATGCCCCAGA	0.637																																					p.K25T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A74C	X						.						24.0	17.0	20.0					X																	69644908		2202	4298	6500	69561633	SO:0001583	missense	54857	exon2			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.74A>C	X.37:g.69644908A>C	ENSP00000363503:p.Lys25Thr		69561633	NM_017711	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995231	0.35226	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.29917	1.55;1.55	5.25	2.71	0.32032	.	0.709430	0.14152	N	0.337970	T	0.17408	0.0418	N	0.22421	0.69	0.09310	N	1	B;B	0.15141	0.012;0.004	B;B	0.11329	0.006;0.004	T	0.28299	-1.0048	9	.	.	.	-2.2303	5.235	0.15441	0.5623:0.3437:0.094:0.0	.	25;25	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	T	25	ENSP00000414019:K25T;ENSP00000363503:K25T	.	K	+	2	0	GDPD2	69561633	0.845000	0.29573	0.162000	0.22713	0.964000	0.63967	1.426000	0.34870	0.244000	0.21351	0.486000	0.48141	AAA		0.637	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
TEX11	56159	broad.mit.edu	37	X	69830386	69830386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:69830386C>A	ENST00000395889.2	-	22	1959	c.1804G>T	c.(1804-1806)Gaa>Taa	p.E602*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.E587*|TEX11_ENST00000374320.2_Nonsense_Mutation_p.E277*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E602*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	602					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.E587*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CGATCCATTTCTTTCTTCCTA	0.338																																					p.E602X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1804T	X						.						130.0	129.0	130.0					X																	69830386		2203	4300	6503	69747111	SO:0001587	stop_gained	56159	exon22			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1804G>T	X.37:g.69830386C>A	ENSP00000379226:p.Glu602*		69747111	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184468	0.94885	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	4.08	2.27	0.28462	.	0.842741	0.10529	N	0.664031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2546	4.9891	0.14205	0.0:0.6664:0.2111:0.1225	.	.	.	.	X	587;602;277;602	.	.	E	-	1	0	TEX11	69747111	1.000000	0.71417	0.751000	0.31187	0.517000	0.34286	1.161000	0.31773	0.324000	0.23333	0.600000	0.82982	GAA		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
MED12	9968	broad.mit.edu	37	X	70360705	70360705	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:70360705C>T	ENST00000374080.3	+	42	6297	c.6265C>T	c.(6265-6267)Cgg>Tgg	p.R2089W	MED12_ENST00000333646.6_Missense_Mutation_p.R2092W|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_Missense_Mutation_p.R2088W			Q93074	MED12_HUMAN	mediator complex subunit 12	2089	Gln-rich.				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.R2089W(2)		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)					gcagATCCTGCGGGTAAGGCA	0.572			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																														p.R2089W			Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6265T	X						.						23.0	25.0	24.0					X																	70360705		2168	4209	6377	70277430	SO:0001583	missense	9968	exon42			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.6265C>T	X.37:g.70360705C>T	ENSP00000363193:p.Arg2089Trp		70277430	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477279	0.44044	.	.	ENSG00000184634	ENST00000333646;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.48	1.29	0.21616	.	2.487750	0.01159	N	0.006612	T	0.14614	0.0353	N	0.08118	0	0.28039	N	0.933811	P;D;P	0.53885	0.938;0.963;0.938	B;P;B	0.44561	0.265;0.453;0.265	T	0.17471	-1.0368	10	0.62326	D	0.03	0.0216	6.6946	0.23191	0.5019:0.3485:0.1496:0.0	.	1939;2088;2089	Q7Z3Z5;Q93074-3;Q93074	.;.;MED12_HUMAN	W	2092;2088;2089;2039;837	ENSP00000333125:R2092W;ENSP00000363215:R2088W;ENSP00000363193:R2089W;ENSP00000414203:R2039W;ENSP00000408388:R837W	ENSP00000333125:R2092W	R	+	1	2	MED12	70277430	0.438000	0.25602	0.923000	0.36655	0.977000	0.68977	-0.038000	0.12144	0.327000	0.23409	0.422000	0.28245	CGG		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
NLGN3	54413	broad.mit.edu	37	X	70384117	70384117	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:70384117C>A	ENST00000358741.3	+	6	1155	c.852C>A	c.(850-852)gtC>gtA	p.V284V	NLGN3_ENST00000536169.1_Silent_p.V244V|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.V264V	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	284					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.V264V(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGATCACTGTCTTTGGCTCGG	0.582																																					p.V244V	Esophageal Squamous(103;760 1488 16849 22250 40351)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C732A	X						.						79.0	70.0	73.0					X																	70384117		2203	4300	6503	70300842	SO:0001819	synonymous_variant	54413	exon4			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.852C>A	X.37:g.70384117C>A			70300842	NM_001166660	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	CCDS55441.1																																																																																				0.582	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977	
TAF1	6872	broad.mit.edu	37	X	70617214	70617214	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:70617214G>A	ENST00000373790.4	+	23	3566	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	TAF1_ENST00000449580.1_Missense_Mutation_p.R1172Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R1193Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1193Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1172					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1172Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGCACGTTTCGAGATGAAGAG	0.478																																					p.R1172Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3515A	X						.						181.0	126.0	145.0					X																	70617214		2203	4300	6503	70533939	SO:0001583	missense	6872	exon23				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3515G>A	X.37:g.70617214G>A	ENSP00000362895:p.Arg1172Gln		70533939	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.14|17.14	3.312520|3.312520	0.60414|0.60414	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.17213	.|2.29;2.29;2.29;2.29	4.91|4.91	4.05|4.05	0.47172|0.47172	.|.	.|0.199527	.|0.46758	.|D	.|0.000269	T|T	0.16085|0.16085	0.0387|0.0387	L|L	0.41124|0.41124	1.26|1.26	0.45284|0.45284	D|D	0.998284|0.998284	.|B;B;B	.|0.30851	.|0.297;0.098;0.256	.|B;B;B	.|0.32533	.|0.147;0.015;0.08	T|T	0.03739|0.03739	-1.1008|-1.1008	5|10	.|0.42905	.|T	.|0.14	.|.	12.6353|12.6353	0.56679|0.56679	0.0819:0.0:0.9181:0.0|0.0819:0.0:0.9181:0.0	.|.	.|1172;1172;1193	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	K|Q	83|1172;1172;1193;1193	.|ENSP00000362895:R1172Q;ENSP00000389000:R1172Q;ENSP00000406549:R1193Q;ENSP00000276072:R1193Q	.|ENSP00000276072:R1193Q	E|R	+|+	1|2	0|0	TAF1|TAF1	70533939|70533939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.119000|5.119000	0.64679|0.64679	1.105000|1.105000	0.41606|0.41606	0.449000|0.449000	0.29647|0.29647	GAG|CGA		0.478	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
OGT	8473	broad.mit.edu	37	X	70782802	70782802	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:70782802A>G	ENST00000373719.3	+	16	2300	c.2083A>G	c.(2083-2085)Aaa>Gaa	p.K695E	OGT_ENST00000373701.3_Missense_Mutation_p.K685E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	695					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.K685E(1)|p.K695E(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GTATTCCGAGAAATTGGCTTA	0.438																																					p.K685E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2053G	X						.						129.0	117.0	121.0					X																	70782802		2203	4300	6503	70699527	SO:0001583	missense	8473	exon16			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2083A>G	X.37:g.70782802A>G	ENSP00000362824:p.Lys695Glu		70699527	NM_181673	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377747	0.61735	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.17528	2.27;2.27	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.75777	2.31	0.80722	D	1	B;B;P	0.39071	0.447;0.394;0.658	B;B;P	0.46685	0.202;0.116;0.524	T	0.03025	-1.1081	10	0.36615	T	0.2	.	14.3726	0.66852	1.0:0.0:0.0:0.0	.	569;685;695	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	695;685	ENSP00000362824:K695E;ENSP00000362805:K685E	ENSP00000362805:K685E	K	+	1	0	OGT	70699527	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	9.108000	0.94275	1.970000	0.57323	0.481000	0.45027	AAA		0.438	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
ERCC6L	54821	broad.mit.edu	37	X	71427103	71427103	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:71427103C>T	ENST00000334463.3	-	2	1649	c.1514G>A	c.(1513-1515)cGa>cAa	p.R505Q	ERCC6L_ENST00000373657.1_Missense_Mutation_p.R382Q|PIN4_ENST00000423432.2_Intron	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	71802367	71802367	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:71802367G>T	ENST00000373542.4	-	31	3538	c.3379C>A	c.(3379-3381)Ctg>Atg	p.L1127M	PHKA1_ENST00000339490.3_Missense_Mutation_p.L1114M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L1055M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L1144M|PHKA1_ENST00000373545.3_Missense_Mutation_p.L1085M	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1127					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.L1127M(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)					GCTTCAACCAGCAGCTGACGG	0.438																																					p.L1055M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3163A	X						.						104.0	80.0	88.0					X																	71802367		2203	4300	6503	71719092	SO:0001583	missense	5255	exon29				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.3379C>A	X.37:g.71802367G>T	ENSP00000362643:p.Leu1127Met		71719092	NM_001172436	B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364702	0.41902	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91464	-2.85;-2.84;-2.83;-2.81;-2.83	5.12	4.25	0.50352	.	0.000000	0.64402	D	0.000001	D	0.93145	0.7817	L	0.49256	1.55	0.49130	D	0.999759	D;D;P;D	0.89917	0.999;0.964;0.934;1.0	D;P;P;D	0.87578	0.998;0.757;0.661;0.996	D	0.91088	0.4904	10	0.39692	T	0.17	-5.7589	13.7127	0.62678	0.0872:0.0:0.9128:0.0	.	1055;1085;1114;1127	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	M	1085;1127;1055;1114;1144	ENSP00000362646:L1085M;ENSP00000362643:L1127M;ENSP00000441251:L1055M;ENSP00000342469:L1114M;ENSP00000362640:L1144M	ENSP00000342469:L1114M	L	-	1	2	PHKA1	71719092	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.877000	0.63086	0.409000	0.25649	-0.923000	0.02734	CTG		0.438	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
ABCB7	22	broad.mit.edu	37	X	74288917	74288917	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:74288917G>A	ENST00000373394.3	-	12	1591	c.1584C>T	c.(1582-1584)agC>agT	p.S528S	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Silent_p.S488S|ABCB7_ENST00000253577.3_Silent_p.S529S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	528	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.S529S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CAAGATAAATGCTACCCTTTT	0.383																																					p.S529S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1587T	X						.						128.0	113.0	118.0					X																	74288917		2203	4300	6503	74205642	SO:0001819	synonymous_variant	22	exon12			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.1584C>T	X.37:g.74288917G>A			74205642	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Silent	SNP	ENST00000373394.3	37																																																																																					0.383	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
BRWD3	254065	broad.mit.edu	37	X	79948460	79948460	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:79948460G>T	ENST00000373275.4	-	28	3458	c.3242C>A	c.(3241-3243)tCt>tAt	p.S1081Y	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1081					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.S1081Y(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						ACACTGGAAAGAACTATCAGG	0.393																																					p.S1081Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3242A	X						.						161.0	143.0	149.0					X																	79948460		2203	4300	6503	79835116	SO:0001583	missense	254065	exon28				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.3242C>A	X.37:g.79948460G>T	ENSP00000362372:p.Ser1081Tyr		79835116	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	5.177	0.218150	0.09810	.	.	ENSG00000165288	ENST00000373275	T	0.43688	0.94	4.97	4.97	0.65823	.	0.078002	0.56097	D	0.000029	T	0.25195	0.0612	N	0.14661	0.345	0.40929	D	0.984372	P	0.39831	0.69	B	0.38106	0.265	T	0.07443	-1.0772	9	.	.	.	-13.8132	10.9953	0.47571	0.0873:0.0:0.9127:0.0	.	1081	Q6RI45	BRWD3_HUMAN	Y	1081	ENSP00000362372:S1081Y	.	S	-	2	0	BRWD3	79835116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.891000	0.75639	2.292000	0.77174	0.600000	0.82982	TCT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
BRWD3	254065	broad.mit.edu	37	X	79984252	79984252	+	Splice_Site	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:79984252G>T	ENST00000373275.4	-	14	1601	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	462					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.S462Y(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						AATACTTACAGATAATGTATG	0.323																																					p.S462Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1385A	X						.						36.0	31.0	33.0					X																	79984252		2201	4296	6497	79870908	SO:0001630	splice_region_variant	254065	exon14				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.1386+1C>A	X.37:g.79984252G>T			79870908	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491057	0.44249	.	.	ENSG00000165288	ENST00000373275	T	0.60040	0.22	4.86	3.96	0.45880	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.060048	0.64402	D	0.000002	T	0.50752	0.1634	L	0.43701	1.375	0.44373	D	0.997272	B	0.18741	0.03	B	0.29440	0.102	T	0.45934	-0.9227	9	.	.	.	-1.5467	14.4085	0.67099	0.0:0.1436:0.8564:0.0	.	462	Q6RI45	BRWD3_HUMAN	Y	462	ENSP00000362372:S462Y	.	S	-	2	0	BRWD3	79870908	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.142000	0.64820	2.247000	0.74100	0.544000	0.68410	TCT		0.323	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Missense_Mutation
BRWD3	254065	broad.mit.edu	37	X	80001174	80001174	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:80001174A>G	ENST00000373275.4	-	7	701	c.485T>C	c.(484-486)tTc>tCc	p.F162S		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	162					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.F162S(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						AGATGAAGGGAAAATATGACC	0.393																																					p.F162S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T485C	X						.						46.0	41.0	43.0					X																	80001174		2203	4299	6502	79887830	SO:0001583	missense	254065	exon7				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.485T>C	X.37:g.80001174A>G	ENSP00000362372:p.Phe162Ser		79887830	NM_153252	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859232	0.71834	.	.	ENSG00000165288	ENST00000373275	T	0.23348	1.91	4.96	4.96	0.65561	.	0.069527	0.64402	D	0.000013	T	0.26846	0.0657	M	0.61703	1.905	0.40996	D	0.984893	B	0.29862	0.259	B	0.26770	0.073	T	0.06215	-1.0839	9	.	.	.	-7.8262	13.8084	0.63248	1.0:0.0:0.0:0.0	.	162	Q6RI45	BRWD3_HUMAN	S	162	ENSP00000362372:F162S	.	F	-	2	0	BRWD3	79887830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.038000	0.93771	1.835000	0.53391	0.441000	0.28932	TTC		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	
POU3F4	5456	broad.mit.edu	37	X	82763852	82763852	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:82763852G>A	ENST00000373200.2	+	1	584	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	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	174					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.E174K(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						GGATCACGGCGAACTGGGCTC	0.602																																					p.E174K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	X						.						22.0	22.0	22.0					X																	82763852		2203	4299	6502	82650508	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.520G>A	X.37:g.82763852G>A	ENSP00000362296:p.Glu174Lys		82650508	NM_000307	B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	0.380	-0.929159	0.02359	.	.	ENSG00000196767	ENST00000373200	D	0.84730	-1.89	5.31	5.31	0.75309	.	0.265992	0.36167	N	0.002752	T	0.74928	0.3781	L	0.29908	0.895	0.33195	D	0.551385	B	0.21309	0.054	B	0.17433	0.018	T	0.69971	-0.5000	10	0.06625	T	0.88	.	14.2825	0.66221	0.0:0.1458:0.8542:0.0	.	174	P49335	PO3F4_HUMAN	K	174	ENSP00000362296:E174K	ENSP00000362296:E174K	E	+	1	0	POU3F4	82650508	0.999000	0.42202	0.051000	0.19133	0.028000	0.11728	4.870000	0.63035	2.357000	0.79964	0.525000	0.51046	GAA		0.602	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
CYLC1	1538	broad.mit.edu	37	X	83128166	83128166	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:83128166G>T	ENST00000329312.4	+	4	487	c.450G>T	c.(448-450)gaG>gaT	p.E150D		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	150					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E149D(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAGAAGAGAAAACTAAAA	0.343																																					p.E150D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G450T	X						.						22.0	20.0	20.0					X																	83128166		2194	4270	6464	83014822	SO:0001583	missense	1538	exon4			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.450G>T	X.37:g.83128166G>T	ENSP00000331556:p.Glu150Asp		83014822	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	6.005	0.369311	0.11352	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.47528	0.84	4.54	-2.85	0.05734	.	.	.	.	.	T	0.30823	0.0777	L	0.42245	1.32	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.14023	0.01;0.01	T	0.23762	-1.0179	9	0.21014	T	0.42	-1.294	3.6433	0.08176	0.4895:0.0:0.2057:0.3049	.	150;150	P35663;F5H4V5	CYLC1_HUMAN;.	D	150	ENSP00000331556:E150D	ENSP00000331556:E150D	E	+	3	2	CYLC1	83014822	0.000000	0.05858	0.005000	0.12908	0.043000	0.13939	-1.079000	0.03410	-0.630000	0.05567	0.513000	0.50165	GAG		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
CYLC1	1538	broad.mit.edu	37	X	83129044	83129044	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:83129044C>A	ENST00000329312.4	+	4	1365	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	443					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S442Y(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATGAAGAGTCTACTGATGCT	0.348																																					p.S443Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1328A	X						.						24.0	21.0	22.0					X																	83129044		2198	4296	6494	83015700	SO:0001583	missense	1538	exon4			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1328C>A	X.37:g.83129044C>A	ENSP00000331556:p.Ser443Tyr		83015700	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	8.869	0.948823	0.18356	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.27104	1.69	4.08	4.08	0.47627	.	.	.	.	.	T	0.49643	0.1569	M	0.77313	2.365	0.33674	D	0.611266	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63994	-0.6511	9	0.87932	D	0	-9.3653	10.6449	0.45615	0.0:1.0:0.0:0.0	.	443;443	P35663;F5H4V5	CYLC1_HUMAN;.	Y	443	ENSP00000331556:S443Y	ENSP00000331556:S443Y	S	+	2	0	CYLC1	83015700	0.188000	0.23250	0.965000	0.40720	0.009000	0.06853	1.156000	0.31712	2.274000	0.75844	0.600000	0.82982	TCT		0.348	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
RPS6KA6	27330	broad.mit.edu	37	X	83361979	83361979	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:83361979G>A	ENST00000262752.2	-	14	1188	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S394F|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	394	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S394F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCTGCAATAGAAGTTGCAAC	0.338																																					p.S394F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1181T	X						.						76.0	71.0	73.0					X																	83361979		2203	4300	6503	83248635	SO:0001583	missense	27330	exon14			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1181C>T	X.37:g.83361979G>A	ENSP00000262752:p.Ser394Phe		83248635	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642429	0.67244	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.71341	-0.56;-0.56	4.93	4.93	0.64822	AGC-kinase, C-terminal (1);	0.294799	0.37577	N	0.002038	D	0.82857	0.5128	M	0.84433	2.695	0.38100	D	0.937235	B;P	0.41498	0.152;0.752	B;P	0.52267	0.232;0.694	D	0.87454	0.2403	10	0.72032	D	0.01	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	394;394	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	394	ENSP00000262752:S394F;ENSP00000440830:S394F	ENSP00000262752:S394F	S	-	2	0	RPS6KA6	83248635	0.942000	0.31987	0.958000	0.39756	0.989000	0.77384	4.236000	0.58675	2.162000	0.67917	0.600000	0.82982	TCT		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
HDX	139324	broad.mit.edu	37	X	83723904	83723904	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:83723904C>A	ENST00000297977.5	-	3	938	c.827G>T	c.(826-828)aGa>aTa	p.R276I	HDX_ENST00000506585.2_Missense_Mutation_p.R218I|HDX_ENST00000373177.2_Missense_Mutation_p.R276I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	276						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R276I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCAGAATTCTCTGGGGGTA	0.448																																					p.R276I	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G827T	X						.						94.0	89.0	91.0					X																	83723904		2203	4300	6503	83610560	SO:0001583	missense	139324	exon4			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.827G>T	X.37:g.83723904C>A	ENSP00000297977:p.Arg276Ile		83610560	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605246	0.46423	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.49139	0.87;0.79;0.87	5.45	2.69	0.31865	.	0.161807	0.52532	D	0.000063	T	0.45994	0.1370	L	0.61218	1.895	0.54753	D	0.99998	P	0.42123	0.771	B	0.41088	0.347	T	0.49643	-0.8918	10	0.87932	D	0	-32.91	11.2073	0.48778	0.0:0.7917:0.0:0.2083	.	276	Q7Z353	HDX_HUMAN	I	276;218;276	ENSP00000297977:R276I;ENSP00000362272:R218I;ENSP00000423670:R276I	ENSP00000297977:R276I	R	-	2	0	HDX	83610560	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.187000	0.42602	0.590000	0.29694	0.513000	0.50165	AGA		0.448	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
DACH2	117154	broad.mit.edu	37	X	86069731	86069731	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:86069731G>A	ENST00000373125.4	+	10	1578	c.1578G>A	c.(1576-1578)aaG>aaA	p.K526K	DACH2_ENST00000373131.1_Silent_p.K513K|DACH2_ENST00000510272.1_Silent_p.K307K|DACH2_ENST00000508860.1_Silent_p.K359K	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	526	DACHbox-C.				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.K513K(1)|p.K526K(1)		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						AAAAAACCAAGAGAAAATTGC	0.448																																					p.K526K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1578A	X						.						61.0	57.0	58.0					X																	86069731		2203	4300	6503	85956387	SO:0001819	synonymous_variant	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.1578G>A	X.37:g.86069731G>A			85956387	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Silent	SNP	ENST00000373125.4	37	CCDS14455.1																																																																																				0.448	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
KLHL4	56062	broad.mit.edu	37	X	86773235	86773235	+	Missense_Mutation	SNP	G	G	T	rs186431341		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:86773235G>T	ENST00000373119.4	+	1	484	c.339G>T	c.(337-339)aaG>aaT	p.K113N	KLHL4_ENST00000373114.4_Missense_Mutation_p.K113N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	113						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.K113N(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						TTCCAGAGAAGAATTTATTCA	0.408													G|||	1	0.000264901	0.0	0.0	3775	,	,		14280	0.001		0.0	False		,,,				2504	0.0				p.K113N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G339T	X						.						60.0	60.0	60.0					X																	86773235		2203	4300	6503	86659891	SO:0001583	missense	56062	exon1			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.339G>T	X.37:g.86773235G>T	ENSP00000362211:p.Lys113Asn		86659891	NM_057162	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.011	-1.726874	0.00694	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74209	-0.82;-0.78	5.05	2.22	0.28083	.	2.867830	0.00961	N	0.003113	T	0.56790	0.2009	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.006;0.034	B;B	0.28011	0.017;0.085	T	0.48581	-0.9023	10	0.12103	T	0.63	.	6.082	0.19946	0.2507:0.1347:0.6146:0.0	.	113;113	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	N	113	ENSP00000362211:K113N;ENSP00000362206:K113N	ENSP00000362206:K113N	K	+	3	2	KLHL4	86659891	0.939000	0.31865	0.004000	0.12327	0.078000	0.17371	-0.078000	0.11375	0.131000	0.18576	0.513000	0.50165	AAG		0.408	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
CPXCR1	53336	broad.mit.edu	37	X	88009305	88009305	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:88009305G>T	ENST00000276127.4	+	3	1149	c.890G>T	c.(889-891)aGc>aTc	p.S297I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S297I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	297							metal ion binding (GO:0046872)	p.S297I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CATTCATGCAGCTCTTCTGGG	0.294																																					p.S297I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G890T	X						.						35.0	36.0	35.0					X																	88009305		2193	4289	6482	87895961	SO:0001583	missense	53336	exon3			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.890G>T	X.37:g.88009305G>T	ENSP00000276127:p.Ser297Ile		87895961	NM_001184771	B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	G	6.472	0.455236	0.12283	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.29917	1.55;1.55	3.57	-1.73	0.08081	Zinc finger, C2H2 (1);	0.734274	0.12186	N	0.491677	T	0.22044	0.0531	N	0.19112	0.55	0.09310	N	1	P	0.45176	0.852	P	0.47705	0.555	T	0.21552	-1.0242	9	.	.	.	0.1075	8.0203	0.30406	0.6336:0.0:0.3664:0.0	.	297	Q8N123	CPXCR_HUMAN	I	297	ENSP00000276127:S297I;ENSP00000362203:S297I	.	S	+	2	0	CPXCR1	87895961	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.551000	0.06027	-0.604000	0.05760	-1.350000	0.01237	AGC		0.294	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048	
PCDH11X	27328	broad.mit.edu	37	X	91132097	91132097	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:91132097C>A	ENST00000373094.1	+	2	1703	c.858C>A	c.(856-858)ttC>ttA	p.F286L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.F286L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.F286L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.F286L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.F286L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.F286L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.F286L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.F286L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.F286L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	286	Cadherin 3. {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.F286L(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						AGATCCACTTCTCTTTCAGCA	0.438																																					p.F286L	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C858A	X						.						15.0	14.0	14.0					X																	91132097		2167	4238	6405	91018753	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.858C>A	X.37:g.91132097C>A	ENSP00000362186:p.Phe286Leu		91018753	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263940	0.39995	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.63	3.75	0.43078	Cadherin (4);Cadherin-like (1);	0.052199	0.85682	D	0.000000	T	0.57695	0.2071	M	0.65320	2	0.39067	D	0.96063	P;D;D;D;D;D;P;P	0.55172	0.928;0.968;0.963;0.963;0.963;0.97;0.928;0.928	P;P;P;P;P;P;P;P	0.60068	0.591;0.729;0.792;0.792;0.792;0.868;0.591;0.591	T	0.60657	-0.7220	10	0.87932	D	0	.	7.3335	0.26596	0.0:0.7918:0.0:0.2082	.	286;286;286;286;286;286;286;286	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	286	ENSP00000378746:F286L;ENSP00000362186:F286L;ENSP00000362189:F286L;ENSP00000355040:F286L;ENSP00000362180:F286L;ENSP00000423762:F286L;ENSP00000355105:F286L;ENSP00000384758:F286L;ENSP00000298274:F286L	ENSP00000298274:F286L	F	+	3	2	PCDH11X	91018753	1.000000	0.71417	0.972000	0.41901	0.216000	0.24613	0.704000	0.25661	0.723000	0.32274	0.544000	0.68410	TTC		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
NAP1L3	4675	broad.mit.edu	37	X	92927556	92927556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:92927556C>A	ENST00000373079.3	-	1	1011	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	NAP1L3_ENST00000475430.2_Nonsense_Mutation_p.E243*|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	250	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.E250*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTAGGATCTTCTTTTACTTCA	0.423																																					p.E250X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G748T	X						.						144.0	137.0	140.0					X																	92927556		2203	4300	6503	92814212	SO:0001587	stop_gained	4675	exon1				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.748G>T	X.37:g.92927556C>A	ENSP00000362171:p.Glu250*		92814212	NM_004538	B2RCM0|O60788	Nonsense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508891	0.85282	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.548	0.50704	0.0:1.0:0.0:0.0	.	.	.	.	X	250;243	.	ENSP00000362171:E250X	E	-	1	0	NAP1L3	92814212	0.948000	0.32251	0.988000	0.46212	0.513000	0.34164	1.617000	0.36943	1.858000	0.53909	0.529000	0.55759	GAA		0.423	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
FAM133A	286499	broad.mit.edu	37	X	92965096	92965096	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:92965096G>A	ENST00000355813.5	+	4	1204	c.678G>A	c.(676-678)aaG>aaA	p.K226K	FAM133A_ENST00000538690.1_Silent_p.K226K|FAM133A_ENST00000332647.4_Silent_p.K226K|FAM133A_ENST00000322139.4_Silent_p.K226K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	226	Lys-rich.							p.K226K(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						agaagaagaagaagaaacagc	0.368													g|||	1	0.000264901	0.0	0.0	3775	,	,		14404	0.0		0.0	False		,,,				2504	0.001				p.K226K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G678A	X						.						23.0	22.0	22.0					X																	92965096		2194	4290	6484	92851752	SO:0001819	synonymous_variant	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.678G>A	X.37:g.92965096G>A			92851752	NM_001171110		Silent	SNP	ENST00000355813.5	37	CCDS14466.1																																																																																				0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698	
DIAPH2	1730	broad.mit.edu	37	X	96213131	96213131	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:96213131G>T	ENST00000324765.8	+	16	2266	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R640I|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R640I|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R640I|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R636I			O60879	DIAP2_HUMAN	diaphanous-related formin 2	640	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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.R640I(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						TCCATGAAGAGAATCAATTGG	0.363																																					p.R640I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1919T	X						.						42.0	46.0	44.0					X																	96213131		2202	4300	6502	96099787	SO:0001583	missense	1730	exon16			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.1919G>T	X.37:g.96213131G>T	ENSP00000321348:p.Arg640Ile		96099787	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963712	0.53507	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.23	4.37	0.52481	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	M	0.90369	3.11	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.65874	0.939;0.899	T	0.60667	-0.7218	10	0.87932	D	0	.	12.7484	0.57293	0.0828:0.0:0.9172:0.0	.	640;640	O60879;O60879-2	DIAP2_HUMAN;.	I	640;636;640;640;640;647	ENSP00000362152:R640I;ENSP00000362145:R636I;ENSP00000348082:R640I;ENSP00000362140:R640I;ENSP00000321348:R640I	ENSP00000321348:R640I	R	+	2	0	DIAPH2	96099787	1.000000	0.71417	0.953000	0.39169	0.229000	0.25112	9.233000	0.95337	0.979000	0.38497	0.594000	0.82650	AGA		0.363	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	99663286	99663286	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:99663286C>T	ENST00000373034.4	-	1	1985	c.310G>A	c.(310-312)Gag>Aag	p.E104K	PCDH19_ENST00000255531.7_Missense_Mutation_p.E104K|PCDH19_ENST00000420881.2_Missense_Mutation_p.E104K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E104K(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						GACATGACCTCGAGCGAGATG	0.557																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	X						.						110.0	104.0	106.0					X																	99663286		2145	4240	6385	99549942	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.310G>A	X.37:g.99663286C>T	ENSP00000362125:p.Glu104Lys		99549942	NM_001105243	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487049	0.84854	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.30448	1.53;1.53;1.53	5.7	5.7	0.88788	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.56124	1.755	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	0.54616	-0.8267	10	0.87932	D	0	.	18.367	0.90394	0.0:1.0:0.0:0.0	.	104;104;104	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	104	ENSP00000400327:E104K;ENSP00000362125:E104K;ENSP00000255531:E104K	ENSP00000255531:E104K	E	-	1	0	PCDH19	99549942	1.000000	0.71417	0.938000	0.37757	0.978000	0.69477	7.770000	0.85390	2.385000	0.81259	0.544000	0.68410	GAG		0.557	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
SPRY3	10251	broad.mit.edu	37	X	155003874	155003874	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chrX:155003874G>A	ENST00000302805.2	+	2	772	c.341G>A	c.(340-342)cGa>cAa	p.R114Q		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	114					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R114Q(1)|p.R114L(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCCATCATCCGAACCCAACCT	0.547																																					p.R114Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G341A	X						.	G	GLN/ARG	1,4405		0,1,2202	110.0	105.0	107.0		341	3.1	1.0	X	dbSNP_134	107	0,8592		0,0,4296	no	missense	SPRY3	NM_005840.1	43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	114/289	155003874	1,12997	2203	4296	6499	154657068	SO:0001583	missense	10251	exon2			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.341G>A	X.37:g.155003874G>A	ENSP00000302978:p.Arg114Gln		154657068	NM_005840	A8K0H8	Missense_Mutation	SNP	ENST00000302805.2	37	CCDS14769.4	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141827	0.37825	2.27E-4	0.0	ENSG00000168939	ENST00000302805	T	0.57595	0.39	3.14	3.14	0.36123	.	0.168000	0.39020	N	0.001489	T	0.47135	0.1429	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.44673	0.457	T	0.46484	-0.9188	9	0.62326	D	0.03	-0.4995	11.3539	0.49605	0.0:0.0:1.0:0.0	.	114	O43610	SPY3_HUMAN	Q	114	ENSP00000302978:R114Q	ENSP00000302978:R114Q	R	+	2	0	SPRY3	154657068	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.847000	0.62867	1.593000	0.50029	0.279000	0.19357	CGA		0.547	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840	
LONRF2	164832	broad.mit.edu	37	2	100911973	100911973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:100911973C>A	ENST00000393437.3	-	8	2158	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	LONRF2_ENST00000409647.1_Nonsense_Mutation_p.E264*	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	507							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.E507*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						AATATTAATTCTTCGGCCAGA	0.338																																					p.E507X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1519T	2						.						108.0	105.0	106.0					2																	100911973		2203	4300	6503	100278405	SO:0001587	stop_gained	164832	exon8			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1519G>T	2.37:g.100911973C>A	ENSP00000377086:p.Glu507*		100278405	NM_198461	B9A006|Q6ZSR4	Nonsense_Mutation	SNP	ENST00000393437.3	37	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	C	42	9.806971	0.99268	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.2635	17.0183	0.86425	0.0:1.0:0.0:0.0	.	.	.	.	X	507;264	.	ENSP00000377086:E507X	E	-	1	0	LONRF2	100278405	1.000000	0.71417	0.331000	0.25455	0.686000	0.39977	2.404000	0.44539	2.054000	0.61138	0.655000	0.94253	GAA		0.338	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461	
MAP4K4	9448	broad.mit.edu	37	2	102440450	102440450	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:102440450A>C	ENST00000347699.4	+	4	241	c.241A>C	c.(241-243)Aac>Cac	p.N81H	MAP4K4_ENST00000350878.4_Missense_Mutation_p.N61H|MAP4K4_ENST00000425019.1_Missense_Mutation_p.N81H|MAP4K4_ENST00000456652.1_Missense_Mutation_p.N81H|MAP4K4_ENST00000324219.4_Missense_Mutation_p.N81H|MAP4K4_ENST00000302217.5_Missense_Mutation_p.N81H|MAP4K4_ENST00000413150.2_Missense_Mutation_p.N81H|MAP4K4_ENST00000350198.4_Missense_Mutation_p.N81H	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.N81H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCATCACAGAAACATTGCAAC	0.378																																					p.N81H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A241C	2						.						79.0	78.0	79.0					2																	102440450		1871	4102	5973	101806882	SO:0001583	missense	9448	exon4			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.241A>C	2.37:g.102440450A>C	ENSP00000314363:p.Asn81His		101806882	NM_145687	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959258	0.74016	.	.	ENSG00000071054	ENST00000427603;ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T;T	0.33438	2.87;1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41;2.24	5.78	5.78	0.91487	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	0.59376	0.2189	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.999;0.999;0.999;0.998;0.998	T	0.64744	-0.6335	10	0.87932	D	0	.	16.1138	0.81283	1.0:0.0:0.0:0.0	.	61;81;81;81;81;81;81;81;81	B7Z388;B7Z3V5;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;M4K4_HUMAN;.;.;.;.	H	81;81;81;81;81;81;81;81;43;61	ENSP00000403016:N81H;ENSP00000392830:N81H;ENSP00000313644:N81H;ENSP00000281111:N81H;ENSP00000303600:N81H;ENSP00000389752:N81H;ENSP00000387370:N81H;ENSP00000314363:N81H;ENSP00000409720:N43H;ENSP00000343658:N61H	ENSP00000303600:N81H	N	+	1	0	MAP4K4	101806882	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.287000	0.95975	2.220000	0.72140	0.533000	0.62120	AAC		0.378	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
IL1R2	7850	broad.mit.edu	37	2	102625050	102625050	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:102625050T>C	ENST00000332549.3	+	2	242	c.13T>C	c.(13-15)Tac>Cac	p.Y5H	IL1R2_ENST00000441002.1_Missense_Mutation_p.Y5H|IL1R2_ENST00000393414.2_Missense_Mutation_p.Y5H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	5					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.Y5H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GTTGCGCTTGTACGTGTTGGT	0.532																																					p.Y5H	Pancreas(106;189 1628 2302 5133 12295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T13C	2						.						263.0	231.0	242.0					2																	102625050		2203	4300	6503	101991482	SO:0001583	missense	7850	exon2			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.13T>C	2.37:g.102625050T>C	ENSP00000330959:p.Tyr5His		101991482	NM_173343	D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856911	0.32791	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.34472	2.09;2.09;1.36;2.13	4.74	3.59	0.41128	.	1.336870	0.04711	N	0.417578	T	0.28167	0.0695	N	0.24115	0.695	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.12553	-1.0543	10	0.16420	T	0.52	.	6.6385	0.22897	0.0:0.1128:0.0:0.8872	.	5	P27930	IL1R2_HUMAN	H	5	ENSP00000330959:Y5H;ENSP00000377066:Y5H;ENSP00000408415:Y5H;ENSP00000414611:Y5H	ENSP00000330959:Y5H	Y	+	1	0	IL1R2	101991482	0.001000	0.12720	0.004000	0.12327	0.023000	0.10783	0.735000	0.26115	0.788000	0.33755	0.379000	0.24179	TAC		0.532	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
IL18R1	8809	broad.mit.edu	37	2	102984390	102984390	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:102984390G>A	ENST00000409599.1	+	4	520	c.164G>A	c.(163-165)aGc>aAc	p.S55N	IL18R1_ENST00000334376.3_Missense_Mutation_p.S55N|IL18R1_ENST00000233957.1_Missense_Mutation_p.S55N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	55	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.S55N(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448																																					p.S55N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	2						.						140.0	131.0	134.0					2																	102984390		2203	4300	6503	102350822	SO:0001583	missense	8809	exon2			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.164G>A	2.37:g.102984390G>A	ENSP00000387211:p.Ser55Asn		102350822	NM_003855	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015808	0.19355	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.23	0.373	0.16178	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.728116	0.13439	N	0.387857	T	0.16257	0.0391	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.25169	0.002;0.119;0.002	B;B;B	0.23716	0.001;0.048;0.001	T	0.29701	-1.0003	10	0.14656	T	0.56	.	7.0978	0.25319	0.7265:0.0:0.2735:0.0	.	55;55;55	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	N	55	ENSP00000386663:S55N;ENSP00000387211:S55N;ENSP00000233957:S55N;ENSP00000334030:S55N	ENSP00000233957:S55N	S	+	2	0	IL18R1	102350822	0.000000	0.05858	0.061000	0.19648	0.005000	0.04900	0.291000	0.18994	0.201000	0.20466	0.563000	0.77884	AGC		0.448	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855	
IL18RAP	8807	broad.mit.edu	37	2	103068556	103068556	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:103068556T>A	ENST00000264260.2	+	12	2304	c.1715T>A	c.(1714-1716)cTc>cAc	p.L572H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L430H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	572					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.L572H(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						TGGAACCAGCTCAGAATTACC	0.488																																					p.L572H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1715A	2						.						131.0	143.0	139.0					2																	103068556		2203	4300	6503	102434988	SO:0001583	missense	8807	exon12			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.1715T>A	2.37:g.103068556T>A	ENSP00000264260:p.Leu572His		102434988	NM_003853	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673083	0.67928	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02916	4.13;4.11	5.8	4.65	0.58169	.	1.232420	0.05702	N	0.594231	T	0.08714	0.0216	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.46857	-0.9161	10	0.87932	D	0	.	9.5178	0.39115	0.0:0.0788:0.0:0.9212	.	572	O95256	I18RA_HUMAN	H	572;430	ENSP00000264260:L572H;ENSP00000387201:L430H	ENSP00000264260:L572H	L	+	2	0	IL18RAP	102434988	0.001000	0.12720	0.020000	0.16555	0.202000	0.24057	1.047000	0.30367	1.034000	0.39945	0.528000	0.53228	CTC		0.488	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
ODC1	4953	broad.mit.edu	37	2	10580869	10580869	+	Missense_Mutation	SNP	G	G	A	rs141788096		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:10580869G>A	ENST00000234111.4	-	12	1877	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	ODC1_ENST00000405333.1_Missense_Mutation_p.S456L	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	456					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.S456L(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	AATACTAGCCGAAGCACAGGC	0.502																																					p.S456L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1367T	2						.	G	LEU/SER	0,4406		0,0,2203	91.0	86.0	88.0		1367	5.9	0.1	2	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	no	missense	ODC1	NM_002539.1	145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	456/462	10580869	3,13003	2203	4300	6503	10498320	SO:0001583	missense	4953	exon12				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1367C>T	2.37:g.10580869G>A	ENSP00000234111:p.Ser456Leu		10498320	NM_002539	Q53TU3|Q6LDS9	Missense_Mutation	SNP	ENST00000234111.4	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680686	0.68042	0.0	3.49E-4	ENSG00000115758	ENST00000234111;ENST00000405333	T;T	0.47528	0.84;0.84	5.88	5.88	0.94601	.	0.317504	0.36374	N	0.002632	T	0.48926	0.1527	L	0.54323	1.7	0.44603	D	0.997573	B	0.06786	0.001	B	0.04013	0.001	T	0.36720	-0.9736	10	0.51188	T	0.08	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	456	P11926	DCOR_HUMAN	L	456	ENSP00000234111:S456L;ENSP00000385333:S456L	ENSP00000234111:S456L	S	-	2	0	ODC1	10498320	1.000000	0.71417	0.126000	0.21872	0.925000	0.55904	7.138000	0.77305	2.789000	0.95967	0.591000	0.81541	TCG		0.502	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2		
SLC9A4	389015	broad.mit.edu	37	2	103141542	103141542	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:103141542G>T	ENST00000295269.4	+	10	2335	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	626					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.E626D(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						AGGCTAAAGAGATTCTGATCC	0.512																																					p.E626D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1878T	2						.						166.0	175.0	172.0					2																	103141542		2203	4300	6503	102507974	SO:0001583	missense	389015	exon10				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.1878G>T	2.37:g.103141542G>T	ENSP00000295269:p.Glu626Asp		102507974	NM_001011552	Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497278	0.44455	.	.	ENSG00000180251	ENST00000295269	T	0.55760	0.5	5.84	3.8	0.43715	.	0.168817	0.52532	D	0.000068	T	0.49355	0.1552	M	0.79475	2.455	0.33131	D	0.543043	B	0.12013	0.005	B	0.16289	0.015	T	0.60378	-0.7275	10	0.72032	D	0.01	.	5.0028	0.14273	0.3799:0.0:0.6201:0.0	.	626	Q6AI14	SL9A4_HUMAN	D	626	ENSP00000295269:E626D	ENSP00000295269:E626D	E	+	3	2	SLC9A4	102507974	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	3.245000	0.51407	1.467000	0.48044	0.643000	0.83706	GAG		0.512	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
C2orf49	79074	broad.mit.edu	37	2	105959411	105959411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:105959411C>T	ENST00000258457.2	+	3	602	c.373C>T	c.(373-375)Cga>Tga	p.R125*	C2orf49_ENST00000410049.1_Nonsense_Mutation_p.R125*|C2orf49_ENST00000437250.2_Nonsense_Mutation_p.R163*			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	125					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)		p.R125*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AGATAATGATCGACTGAAGCC	0.398																																					p.R125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C373T	2						.						106.0	106.0	106.0					2																	105959411		2203	4300	6503	105325843	SO:0001587	stop_gained	79074	exon3			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.373C>T	2.37:g.105959411C>T	ENSP00000258457:p.Arg125*		105325843	NM_024093	B3KXN3|B4E2G9	Nonsense_Mutation	SNP	ENST00000258457.2	37	CCDS2068.1	.	.	.	.	.	.	.	.	.	.	C	38	6.729144	0.97796	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	.	.	.	5.73	5.73	0.89815	.	0.053156	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.365	16.166	0.81757	0.0:0.8668:0.1332:0.0	.	.	.	.	X	125;163;125	.	ENSP00000258457:R125X	R	+	1	2	C2orf49	105325843	0.990000	0.36364	0.189000	0.23252	0.998000	0.95712	1.923000	0.40055	2.688000	0.91661	0.650000	0.86243	CGA		0.398	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253353.2	NM_024093	
SULT1C2	6819	broad.mit.edu	37	2	108921889	108921889	+	Missense_Mutation	SNP	C	C	T	rs146820413	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:108921889C>T	ENST00000437390.2	+	7	835	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	SULT1C2_ENST00000326853.5_Missense_Mutation_p.R217W|SULT1C2_ENST00000251481.6_Missense_Mutation_p.R206W|SULT1C2_ENST00000409880.1_Missense_Mutation_p.R169W			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCATGAAATTCGGAAGGTGAT	0.408													C|||	13	0.00259585	0.0098	0.0	5008	,	,		22067	0.0		0.0	False		,,,				2504	0.0				p.R206W												.	.	0			c.C616T	2						.	C	TRP/ARG,TRP/ARG	38,4368	43.1+/-76.7	1,36,2166	90.0	90.0	90.0		616,649	3.7	1.0	2	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	SULT1C2	NM_001056.3,NM_176825.2	101,101	1,36,6466	TT,TC,CC		0.0,0.8625,0.2922	probably-damaging,probably-damaging	206/297,217/308	108921889	38,12968	2203	4300	6503	108288321	SO:0001583	missense	6819	exon7			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.658C>T	2.37:g.108921889C>T	ENSP00000399651:p.Arg220Trp		108288321	NM_001056	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.51	2.259857	0.39995	0.008625	0.0	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	4.66	3.74	0.42951	Sulfotransferase domain (1);	0.750429	0.12255	N	0.485245	D	0.82893	0.5136	M	0.91406	3.205	0.22280	N	0.999234	B;B;B;B	0.24092	0.004;0.097;0.015;0.012	B;B;B;B	0.21546	0.021;0.01;0.035;0.035	T	0.78653	-0.2120	10	0.72032	D	0.01	.	13.3376	0.60526	0.159:0.841:0.0:0.0	.	220;121;206;217	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	W	206;217;169;220	ENSP00000251481:R206W;ENSP00000319622:R217W;ENSP00000387054:R169W;ENSP00000399651:R220W	ENSP00000251481:R206W	R	+	1	2	SULT1C2	108288321	0.001000	0.12720	0.978000	0.43139	0.798000	0.45092	0.458000	0.21892	1.240000	0.43803	0.655000	0.94253	CGG		0.408	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825	
KCNF1	3754	broad.mit.edu	37	2	11053646	11053646	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:11053646T>C	ENST00000295082.1	+	1	1584	c.1094T>C	c.(1093-1095)aTc>aCc	p.I365T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	365					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)|potassium channel activity (GO:0005267)	p.I365T(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TGGTGGGCCATCATCACCATG	0.587																																					p.I365T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1094C	2						.						122.0	96.0	105.0					2																	11053646		2203	4300	6503	10971097	SO:0001583	missense	3754	exon1			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1094T>C	2.37:g.11053646T>C	ENSP00000295082:p.Ile365Thr		10971097	NM_002236	O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	t	9.097	1.003262	0.19121	.	.	ENSG00000162975	ENST00000295082	D	0.98512	-4.97	5.32	5.32	0.75619	Ion transport (1);	0.058433	0.64402	D	0.000001	D	0.97266	0.9106	L	0.49778	1.585	0.80722	D	1	P	0.48089	0.905	P	0.50314	0.637	D	0.96687	0.9508	10	0.14656	T	0.56	.	15.5838	0.76465	0.0:0.0:0.0:1.0	.	365	Q9H3M0	KCNF1_HUMAN	T	365	ENSP00000295082:I365T	ENSP00000295082:I365T	I	+	2	0	KCNF1	10971097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.134000	0.65973	0.529000	0.55759	ATC		0.587	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236	
RANBP2	5903	broad.mit.edu	37	2	109352028	109352028	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:109352028A>C	ENST00000283195.6	+	5	572	c.446A>C	c.(445-447)aAa>aCa	p.K149T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	149					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.K149T(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGATGGAATAAACTTTTTGAC	0.368																																					p.K149T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A446C	2						.						11.0	12.0	12.0					2																	109352028		1104	2154	3258	108718460	SO:0001583	missense	5903	exon5			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.446A>C	2.37:g.109352028A>C	ENSP00000283195:p.Lys149Thr		108718460	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347967	0.61183	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.39056	1.1	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.35038	0.0918	L	0.40543	1.245	0.29870	N	0.826914	P	0.38922	0.651	B	0.35859	0.212	T	0.23868	-1.0176	9	0.27785	T	0.31	-27.5235	14.9618	0.71161	1.0:0.0:0.0:0.0	.	149	P49792	RBP2_HUMAN	T	149	ENSP00000283195:K149T	ENSP00000283195:K149T	K	+	2	0	RANBP2	108718460	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.786000	0.55431	2.012000	0.59069	0.454000	0.30748	AAA		0.368	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
ANAPC1	64682	broad.mit.edu	37	2	112638397	112638397	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:112638397C>T	ENST00000341068.3	-	2	778	c.6G>A	c.(4-6)tcG>tcA	p.S2S	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	2					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.S2S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CATAGAAGTTCGACATGGGTT	0.388																																					p.S2S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6A	2						.						55.0	54.0	54.0					2																	112638397		2203	4300	6503	112354868	SO:0001819	synonymous_variant	64682	exon2			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.6G>A	2.37:g.112638397C>T			112354868	NM_022662	Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	CCDS2093.1																																																																																				0.388	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
TTL	150465	broad.mit.edu	37	2	113251897	113251897	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:113251897G>T	ENST00000233336.6	+	3	605	c.414G>T	c.(412-414)aaG>aaT	p.K138N		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	138	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)	p.K138N(1)		breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATAACAGAAAGAAAGAGGATG	0.468			T	ETV6	ALL																																p.K138N			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G414T	2						.						60.0	60.0	60.0					2																	113251897		2203	4300	6503	112968368	SO:0001583	missense	150465	exon3				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.414G>T	2.37:g.113251897G>T	ENSP00000233336:p.Lys138Asn		112968368	NM_153712	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619641	0.46736	.	.	ENSG00000114999	ENST00000233336	T	0.05855	3.38	5.56	5.56	0.83823	.	0.148158	0.64402	D	0.000010	T	0.08537	0.0212	L	0.36672	1.1	0.52501	D	0.999951	B	0.27316	0.175	B	0.33392	0.163	T	0.38478	-0.9659	10	0.19147	T	0.46	.	18.6492	0.91423	0.0:0.0:1.0:0.0	.	138	Q8NG68	TTL_HUMAN	N	138	ENSP00000233336:K138N	ENSP00000233336:K138N	K	+	3	2	TTL	112968368	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	0.837000	0.27558	2.779000	0.95612	0.561000	0.74099	AAG		0.468	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712	
CKAP2L	150468	broad.mit.edu	37	2	113514069	113514069	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:113514069C>A	ENST00000302450.6	-	4	957	c.879G>T	c.(877-879)aaG>aaT	p.K293N	CKAP2L_ENST00000541405.1_Missense_Mutation_p.K128N|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	293						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K293N(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGGTTTCTTTGATGACT	0.398																																					p.K293N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G879T	2						.						94.0	98.0	96.0					2																	113514069		2203	4300	6503	113230540	SO:0001583	missense	150468	exon4			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.879G>T	2.37:g.113514069C>A	ENSP00000305204:p.Lys293Asn		113230540	NM_152515	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509865	0.27036	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.15256	2.44;3.11	4.69	1.93	0.25924	.	0.424342	0.23454	N	0.048004	T	0.22820	0.0551	M	0.68317	2.08	0.09310	N	1	P	0.48016	0.904	P	0.49887	0.625	T	0.05599	-1.0875	10	0.34782	T	0.22	-6.8178	6.6415	0.22911	0.0:0.7084:0.0:0.2916	.	293	Q8IYA6	CKP2L_HUMAN	N	128;293	ENSP00000438763:K128N;ENSP00000305204:K293N	ENSP00000305204:K293N	K	-	3	2	CKAP2L	113230540	0.346000	0.24844	0.010000	0.14722	0.117000	0.20001	0.044000	0.13992	0.456000	0.26937	0.585000	0.79938	AAG		0.398	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
GREB1	9687	broad.mit.edu	37	2	11772086	11772086	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:11772086G>A	ENST00000381486.2	+	27	4963	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K	GREB1_ENST00000396123.1_Missense_Mutation_p.E553K|GREB1_ENST00000234142.5_Missense_Mutation_p.E1555K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1555						integral component of membrane (GO:0016021)		p.E1555K(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)		CGGCCGTCACGAACATGGGCT	0.448																																					p.E1555K	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4663A	2						.						99.0	96.0	97.0					2																	11772086		1931	4132	6063	11689537	SO:0001583	missense	9687	exon27				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.4663G>A	2.37:g.11772086G>A	ENSP00000370896:p.Glu1555Lys		11689537	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401534	0.83120	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.54675	0.56;0.56;0.56	5.48	4.6	0.57074	.	0.095779	0.64402	D	0.000001	T	0.71099	0.3300	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.75150	-0.3419	10	0.72032	D	0.01	-26.1706	14.1031	0.65070	0.0727:0.0:0.9273:0.0	.	1555	Q4ZG55	GREB1_HUMAN	K	1555;1555;553	ENSP00000370896:E1555K;ENSP00000234142:E1555K;ENSP00000379429:E553K	ENSP00000234142:E1555K	E	+	1	0	GREB1	11689537	1.000000	0.71417	0.656000	0.29637	0.525000	0.34531	9.343000	0.97047	1.317000	0.45149	0.557000	0.71058	GAA		0.448	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
LPIN1	23175	broad.mit.edu	37	2	11959625	11959625	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:11959625G>T	ENST00000256720.2	+	18	2403	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	LPIN1_ENST00000425416.2_Missense_Mutation_p.K776N|LPIN1_ENST00000396097.1_Missense_Mutation_p.K500N|LPIN1_ENST00000404113.2_Missense_Mutation_p.K271N|LPIN1_ENST00000396099.1_Missense_Mutation_p.K812N|LPIN1_ENST00000449576.2_Missense_Mutation_p.K855N	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	770	C-LIP.				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.K770N(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)		TGATTGAAAAGAAGCCAGAAA	0.388																																					p.K770N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2310T	2						.						120.0	125.0	123.0					2																	11959625		2203	4300	6503	11877076	SO:0001583	missense	23175	exon18			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.2310G>T	2.37:g.11959625G>T	ENSP00000256720:p.Lys770Asn		11877076	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748603	0.69533	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.32	5.32	0.75619	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.153040	0.56097	D	0.000025	D	0.88198	0.6372	M	0.79258	2.445	0.80722	D	1	D;D;P	0.71674	0.998;0.998;0.503	D;D;P	0.77557	0.99;0.979;0.803	D	0.88787	0.3275	10	0.87932	D	0	-39.0765	10.0931	0.42458	0.1539:0.0:0.8461:0.0	.	271;855;770	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	N	855;812;776;770;500;271	ENSP00000397908:K855N;ENSP00000379406:K812N;ENSP00000401522:K776N;ENSP00000256720:K770N;ENSP00000379404:K500N;ENSP00000386120:K271N	ENSP00000256720:K770N	K	+	3	2	LPIN1	11877076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.175000	0.50855	2.654000	0.90174	0.655000	0.94253	AAG		0.388	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
LPIN1	23175	broad.mit.edu	37	2	11960605	11960605	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:11960605G>A	ENST00000256720.2	+	19	2571	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E	LPIN1_ENST00000425416.2_Silent_p.E832E|LPIN1_ENST00000396097.1_Silent_p.E556E|LPIN1_ENST00000404113.2_Silent_p.E327E|LPIN1_ENST00000396099.1_Silent_p.E868E|LPIN1_ENST00000449576.2_Silent_p.E911E	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	826	C-LIP.				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.E826E(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)		CTAAAGGAGAGCTGGTACAGG	0.358																																					p.E826E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2478A	2						.						126.0	115.0	119.0					2																	11960605		2203	4300	6503	11878056	SO:0001819	synonymous_variant	23175	exon19			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.2478G>A	2.37:g.11960605G>A			11878056	NM_145693	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																				0.358	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
DPP10	57628	broad.mit.edu	37	2	116572543	116572543	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:116572543G>T	ENST00000410059.1	+	20	2355	c.1875G>T	c.(1873-1875)aaG>aaT	p.K625N	DPP10_ENST00000310323.8_Missense_Mutation_p.K618N|DPP10_ENST00000409163.1_Missense_Mutation_p.K575N|DPP10_ENST00000393147.2_Missense_Mutation_p.K629N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	625						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.K625N(1)|p.K618N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TAGAAGTAAAGGACCAAATAA	0.363																																					p.K575N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1725T	2						.						103.0	108.0	107.0					2																	116572543		2203	4300	6503	116289013	SO:0001583	missense	57628	exon21			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1875G>T	2.37:g.116572543G>T	ENSP00000386565:p.Lys625Asn		116289013	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729583	0.69074	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.16	4.28	0.50868	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.111045	0.64402	D	0.000009	T	0.37433	0.1003	L	0.31578	0.945	0.46096	D	0.998864	D;D;D;D	0.65815	0.987;0.973;0.995;0.99	P;P;P;P	0.62813	0.802;0.674;0.907;0.875	T	0.19712	-1.0297	10	0.72032	D	0.01	-26.8542	9.1594	0.37012	0.1636:0.0:0.8364:0.0	.	618;629;621;625	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	625;575;629;618;575	ENSP00000386565:K625N;ENSP00000387038:K575N;ENSP00000376855:K629N;ENSP00000309066:K618N	ENSP00000309066:K618N	K	+	3	2	DPP10	116289013	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.468000	0.45102	1.416000	0.47057	0.655000	0.94253	AAG		0.363	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
PTPN4	5775	broad.mit.edu	37	2	120702749	120702749	+	Missense_Mutation	SNP	C	C	T	rs370792318		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:120702749C>T	ENST00000263708.2	+	16	2219	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	PTPN4_ENST00000544261.1_Missense_Mutation_p.S116L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	483					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S483L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TATTCACATTCGCAACAAGAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14522	0.0		0.0	False		,,,				2504	0.0				p.S483L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1448T	2						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	81.0	83.0	82.0		1448	5.2	1.0	2		82	0,8600		0,0,4300	no	missense	PTPN4	NM_002830.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	483/927	120702749	1,13005	2203	4300	6503	120419219	SO:0001583	missense	5775	exon16				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1448C>T	2.37:g.120702749C>T	ENSP00000263708:p.Ser483Leu		120419219	NM_002830	B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614869	0.87359	2.27E-4	0.0	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.72615	-0.67;2.89;0.88	5.2	5.2	0.72013	.	0.054263	0.85682	D	0.000000	T	0.77384	0.4122	L	0.34521	1.04	0.53688	D	0.999971	D	0.69078	0.997	D	0.70227	0.968	T	0.75408	-0.3328	10	0.34782	T	0.22	.	19.1079	0.93303	0.0:1.0:0.0:0.0	.	483	P29074	PTN4_HUMAN	L	483;116;109	ENSP00000263708:S483L;ENSP00000445841:S116L;ENSP00000387457:S109L	ENSP00000263708:S483L	S	+	2	0	PTPN4	120419219	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.944000	0.63561	2.566000	0.86566	0.655000	0.94253	TCG		0.368	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2		
TRIB2	28951	broad.mit.edu	37	2	12880840	12880840	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:12880840G>A	ENST00000155926.4	+	3	2371	c.952G>A	c.(952-954)Gca>Aca	p.A318T	TRIB2_ENST00000381465.2_Missense_Mutation_p.A182T	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.A318T(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)					CTCGAATTCAGCATATGGTGC	0.522																																					p.A318T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G952A	2						.						78.0	74.0	75.0					2																	12880840		2203	4300	6503	12798291	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.952G>A	2.37:g.12880840G>A	ENSP00000155926:p.Ala318Thr		12798291	NM_021643		Missense_Mutation	SNP	ENST00000155926.4	37	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771572	0.31320	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.47528	0.88;0.84	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.045930	0.85682	D	0.000000	T	0.30727	0.0774	N	0.08118	0	0.80722	D	1	B	0.18863	0.031	B	0.18263	0.021	T	0.13980	-1.0489	10	0.14656	T	0.56	-11.4536	19.354	0.94404	0.0:0.0:1.0:0.0	.	318	Q92519	TRIB2_HUMAN	T	318;182	ENSP00000155926:A318T;ENSP00000370874:A182T	ENSP00000155926:A318T	A	+	1	0	TRIB2	12798291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.348000	0.59379	2.820000	0.97059	0.650000	0.86243	GCA		0.522	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643	
CNTNAP5	129684	broad.mit.edu	37	2	125521351	125521351	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:125521351T>C	ENST00000431078.1	+	15	2698	c.2334T>C	c.(2332-2334)atT>atC	p.I778I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	778	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.I778I(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)		CTTGGAGAATTGGTCCCTTGC	0.433																																					p.I778I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2334C	2						.						80.0	77.0	78.0					2																	125521351		1882	4106	5988	125237821	SO:0001819	synonymous_variant	129684	exon15			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.2334T>C	2.37:g.125521351T>C			125237821	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
UGGT1	56886	broad.mit.edu	37	2	128903499	128903499	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:128903499A>C	ENST00000259253.6	+	18	2021	c.1974A>C	c.(1972-1974)aaA>aaC	p.K658N	UGGT1_ENST00000375990.3_Missense_Mutation_p.K634N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	658					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.K658N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAATGCATAAAATCCTGGAGA	0.438																																					p.K658N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1974C	2						.						120.0	112.0	114.0					2																	128903499		2203	4300	6503	128619969	SO:0001583	missense	56886	exon18			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.1974A>C	2.37:g.128903499A>C	ENSP00000259253:p.Lys658Asn		128619969	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700364	0.48307	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.31510	1.49;1.49	5.76	0.431	0.16523	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.71581	2.175	0.58432	D	0.999993	B;B	0.30709	0.291;0.041	B;B	0.36845	0.234;0.039	T	0.05273	-1.0895	10	0.24483	T	0.36	.	9.0077	0.36122	0.6676:0.0:0.3324:0.0	.	634;658	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	N	634;658	ENSP00000365158:K634N;ENSP00000259253:K658N	ENSP00000259253:K658N	K	+	3	2	UGGT1	128619969	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	1.749000	0.38319	-0.148000	0.11234	-0.334000	0.08254	AAA		0.438	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
GPR148	344561	broad.mit.edu	37	2	131487602	131487602	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:131487602A>G	ENST00000309926.4	+	1	960	c.878A>G	c.(877-879)gAc>gGc	p.D293G		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D293G(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CACCACATTGACTCTGGGACT	0.572																																					p.D293G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	2						.						161.0	123.0	136.0					2																	131487602		2203	4300	6503	131204072	SO:0001583	missense	344561	exon1			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.878A>G	2.37:g.131487602A>G	ENSP00000308908:p.Asp293Gly		131204072	NM_207364	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.779696	0.00634	.	.	ENSG00000173302	ENST00000309926	T	0.07444	3.19	3.37	-3.57	0.04612	GPCR, rhodopsin-like superfamily (1);	1.567220	0.04826	N	0.437922	T	0.03220	0.0094	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43163	-0.9408	10	0.21014	T	0.42	2.1425	5.0114	0.14315	0.4217:0.1514:0.4269:0.0	.	293	Q8TDV2	GP148_HUMAN	G	293	ENSP00000308908:D293G	ENSP00000308908:D293G	D	+	2	0	GPR148	131204072	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.030000	0.12308	-0.706000	0.05028	-0.624000	0.04008	GAC		0.572	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092	
CCNT2	905	broad.mit.edu	37	2	135710270	135710270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:135710270C>T	ENST00000264157.5	+	8	793	c.763C>T	c.(763-765)Cga>Tga	p.R255*	CCNT2_ENST00000537343.1_Nonsense_Mutation_p.R80*|CCNT2_ENST00000295238.6_Nonsense_Mutation_p.R255*	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	255					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.R255*(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GAAGAAGATTCGAAACTGGAG	0.303																																					p.R255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C763T	2						.						76.0	83.0	81.0					2																	135710270		2203	4300	6503	135426740	SO:0001587	stop_gained	905	exon8			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.763C>T	2.37:g.135710270C>T	ENSP00000264157:p.Arg255*		135426740	NM_058241	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Nonsense_Mutation	SNP	ENST00000264157.5	37	CCDS2174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.541663|4.541663	0.85917|0.85917	.|.	.|.	ENSG00000082258|ENSG00000082258	ENST00000446247;ENST00000537343;ENST00000295238;ENST00000264157|ENST00000452521;ENST00000438691	.|.	.|.	.|.	5.7|5.7	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.50905	.|0.1643	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61530	.|-0.7044	.|3	0.02654|.	T|.	1|.	.|.	8.2114|8.2114	0.31486|0.31486	0.1299:0.7325:0.0:0.1376|0.1299:0.7325:0.0:0.1376	.|.	.|.	.|.	.|.	X|L	96;80;255;255|77;45	.|.	ENSP00000264157:R255X|.	R|S	+|+	1|2	2|0	CCNT2|CCNT2	135426740|135426740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	2.246000|2.246000	0.43142|0.43142	1.415000|1.415000	0.47037|0.47037	-0.142000|-0.142000	0.14014|0.14014	CGA|TCG		0.303	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254629.1	NM_058241	
MAP3K19	80122	broad.mit.edu	37	2	135743788	135743788	+	Missense_Mutation	SNP	C	C	T	rs140658941	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:135743788C>T	ENST00000375845.3	-	7	2684	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R902Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R772Q|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	885							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R885Q(1)|p.R237L(1)|p.R885L(1)|p.R237Q(1)									AGTTAAAATTCGGCTGGCATT	0.378													C|||	4	0.000798722	0.0023	0.0	5008	,	,		20491	0.001		0.0	False		,,,				2504	0.0				p.R885Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.G2654A	2						.	C	,GLN/ARG	12,4394	19.1+/-41.9	0,12,2191	83.0	85.0	85.0		,2654	1.1	0.0	2	dbSNP_134	85	0,8600		0,0,4300	yes	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,43	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	,benign	,885/1329	135743788	12,12994	2203	4300	6503	135460258	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2654G>A	2.37:g.135743788C>T	ENSP00000365005:p.Arg885Gln		135460258	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.001	-3.063502	0.00037	0.002724	0.0	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.69175	-0.19;-0.21;2.12;-0.38	4.86	1.1	0.20463	.	0.480060	0.17580	N	0.169151	T	0.32133	0.0819	N	0.03154	-0.405	0.09310	N	0.999996	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.29792	-1.0000	10	0.02654	T	1	.	6.1132	0.20112	0.0:0.0958:0.163:0.7412	.	772;902;885	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	885;772;902;275	ENSP00000365005:R885Q;ENSP00000351140:R772Q;ENSP00000376647:R902Q;ENSP00000392827:R275Q	ENSP00000351140:R772Q	R	-	2	0	YSK4	135460258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.267000	0.08619	0.034000	0.15491	-1.280000	0.01385	CGA		0.378	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
LCT	3938	broad.mit.edu	37	2	136566201	136566201	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:136566201G>A	ENST00000264162.2	-	8	3726	c.3716C>T	c.(3715-3717)tCg>tTg	p.S1239L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1239	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.S1239L(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)	GGAAGGCCACGAAGGGTCCTC	0.562																																					p.S1239L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3716T	2						.						154.0	128.0	137.0					2																	136566201		2203	4300	6503	136282671	SO:0001583	missense	3938	exon8			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.3716C>T	2.37:g.136566201G>A	ENSP00000264162:p.Ser1239Leu		136282671	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	9.951	1.220130	0.22373	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.53640	0.61	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.452247	0.25795	N	0.028256	T	0.49474	0.1559	L	0.38953	1.18	0.09310	N	1	P	0.44627	0.839	P	0.49477	0.612	T	0.49113	-0.8973	10	0.59425	D	0.04	-10.0745	14.7612	0.69607	0.0:0.0:0.8556:0.1444	.	1239	P09848	LPH_HUMAN	L	1239;671	ENSP00000264162:S1239L	ENSP00000264162:S1239L	S	-	2	0	LCT	136282671	0.974000	0.33945	0.099000	0.21106	0.261000	0.26267	3.875000	0.56108	2.706000	0.92434	0.563000	0.77884	TCG		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
THSD7B	80731	broad.mit.edu	37	2	138030124	138030124	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:138030124C>A	ENST00000409968.1	+	11	2466	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S732Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S763Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	763	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S763Y(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)		GTAAAACAGTCTCGATACAGA	0.393																																					p.S732Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2195A	2						.						106.0	100.0	102.0					2																	138030124		1910	4119	6029	137746594	SO:0001583	missense	80731	exon10					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.2288C>A	2.37:g.138030124C>A	ENSP00000387145:p.Ser763Tyr		137746594	NM_001080427		Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	C	19.02	3.744917	0.69418	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.18657	2.2;2.2;2.2	5.72	5.72	0.89469	.	0.108658	0.64402	D	0.000004	T	0.47948	0.1473	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.966	T	0.32719	-0.9896	10	0.48119	T	0.1	.	18.6606	0.91470	0.0:1.0:0.0:0.0	.	763;732	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Y	763;763;732	ENSP00000387145:S763Y;ENSP00000272643:S763Y;ENSP00000413841:S732Y	ENSP00000272643:S763Y	S	+	2	0	THSD7B	137746594	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.132000	0.64758	2.689000	0.91719	0.655000	0.94253	TCT		0.393	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP1B	53353	broad.mit.edu	37	2	141081485	141081485	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:141081485G>T	ENST00000389484.3	-	81	13462	c.12491C>A	c.(12490-12492)tCt>tAt	p.S4164Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4164					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.S4164Y(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)		ATAACGATGAGATATCAAAAC	0.259										TSP Lung(27;0.18)																											p.S4164Y	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C12491A	2						.						52.0	59.0	57.0					2																	141081485		2203	4287	6490	140797955	SO:0001583	missense	53353	exon81			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.12491C>A	2.37:g.141081485G>T	ENSP00000374135:p.Ser4164Tyr		140797955	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.444|8.444	0.851607|0.851607	0.17034|0.17034	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90955	.|-2.76	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.158983	.|0.43260	.|D	.|0.000599	T|T	0.71854|0.71854	0.3389|0.3389	N|N	0.01267|0.01267	-0.92|-0.92	0.38111|0.38111	D|D	0.937574|0.937574	.|B	.|0.09022	.|0.002	.|B	.|0.08055	.|0.003	T|T	0.71163|0.71163	-0.4673|-0.4673	5|10	.|0.02654	.|T	.|1	.|.	13.2385|13.2385	0.59983|0.59983	0.0829:0.0:0.9171:0.0|0.0829:0.0:0.9171:0.0	.|.	.|4164	.|Q9NZR2	.|LRP1B_HUMAN	I|Y	396|4164;4102	.|ENSP00000374135:S4164Y	.|ENSP00000374135:S4164Y	L|S	-|-	1|2	0|0	LRP1B|LRP1B	140797955|140797955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	3.359000|3.359000	0.52292|0.52292	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.259	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-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	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	141747132	141747132	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:141747132G>A	ENST00000389484.3	-	17	3710	c.2739C>T	c.(2737-2739)agC>agT	p.S913S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	913	LDL-receptor class A 4. {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.S913S(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)		CATCTTCATTGCTCCCACAGT	0.398										TSP Lung(27;0.18)																											p.S913S	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2739T	2						.						136.0	128.0	131.0					2																	141747132		2203	4300	6503	141463602	SO:0001819	synonymous_variant	53353	exon17			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.2739C>T	2.37:g.141747132G>A			141463602	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LYPD6B	130576	broad.mit.edu	37	2	150071119	150071119	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:150071119T>G	ENST00000409029.1	+	7	649	c.447T>G	c.(445-447)acT>acG	p.T149T	LYPD6B_ENST00000409642.3_Silent_p.T173T|LYPD6B_ENST00000409876.1_Silent_p.T149T|LYPD6B_ENST00000280115.7_Silent_p.T173T|LYPD6B_ENST00000498249.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	149	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T173T(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAATCACACTAATGCAGTGT	0.468																																					p.T173T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T519G	2						.						160.0	159.0	160.0					2																	150071119		2043	4185	6228	149779365	SO:0001819	synonymous_variant	130576	exon7				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.447T>G	2.37:g.150071119T>G			149779365	NM_177964	D3DP90|Q53TK0|Q7Z747|Q8IXK7	Silent	SNP	ENST00000409029.1	37																																																																																					0.468	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964	
TNFAIP6	7130	broad.mit.edu	37	2	152236016	152236016	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:152236016A>C	ENST00000243347.3	+	6	878	c.803A>C	c.(802-804)aAc>aCc	p.N268T		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	268					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)	p.N268T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GGAAATAAAAACTTTTTAGCT	0.333																																					p.N268T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803C	2						.						56.0	63.0	60.0					2																	152236016		2203	4300	6503	151944262	SO:0001583	missense	7130	exon6				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.803A>C	2.37:g.152236016A>C	ENSP00000243347:p.Asn268Thr		151944262	NM_007115	Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369420	0.42003	.	.	ENSG00000123610	ENST00000243347	T	0.18810	2.19	5.56	4.41	0.53225	.	0.331135	0.33023	N	0.005370	T	0.13030	0.0316	N	0.24115	0.695	0.26760	N	0.970023	B	0.20052	0.041	B	0.16289	0.015	T	0.22695	-1.0209	10	0.21014	T	0.42	.	9.8449	0.41021	0.9211:0.0:0.0789:0.0	.	268	P98066	TSG6_HUMAN	T	268	ENSP00000243347:N268T	ENSP00000243347:N268T	N	+	2	0	TNFAIP6	151944262	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	1.942000	0.40243	0.934000	0.37316	0.533000	0.62120	AAC		0.333	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115	
RIF1	55183	broad.mit.edu	37	2	152321475	152321475	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:152321475C>T	ENST00000243326.5	+	29	5924	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	RIF1_ENST00000428287.2_Missense_Mutation_p.S1814F|RIF1_ENST00000430328.2_Missense_Mutation_p.S1814F|RIF1_ENST00000453091.2_Missense_Mutation_p.S1814F|RIF1_ENST00000444746.2_Missense_Mutation_p.S1814F			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S1814F(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTAATTGTTTCTGAAACCAAA	0.308																																					p.S1814F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5441T	2						.						58.0	66.0	64.0					2																	152321475		2199	4297	6496	152029721	SO:0001583	missense	55183	exon30			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5441C>T	2.37:g.152321475C>T	ENSP00000243326:p.Ser1814Phe		152029721	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507527	0.27036	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.68	3.88	0.44766	.	0.601697	0.17717	N	0.164366	T	0.12987	0.0315	L	0.34521	1.04	0.28830	N	0.897173	P;P	0.49090	0.868;0.919	B;B	0.43701	0.246;0.428	T	0.03957	-1.0989	10	0.66056	D	0.02	-3.4012	11.1325	0.48356	0.0:0.8475:0.0:0.1525	.	1814;1814	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	F	1814	ENSP00000390181:S1814F;ENSP00000414615:S1814F;ENSP00000415691:S1814F;ENSP00000243326:S1814F;ENSP00000416123:S1814F	ENSP00000243326:S1814F	S	+	2	0	RIF1	152029721	0.003000	0.15002	0.111000	0.21465	0.020000	0.10135	1.048000	0.30379	1.397000	0.46682	0.650000	0.86243	TCT		0.308	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	broad.mit.edu	37	2	152393738	152393738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:152393738C>A	ENST00000172853.10	-	113	16159	c.16012G>T	c.(16012-16014)Gaa>Taa	p.E5338*	NEB_ENST00000427231.2_Nonsense_Mutation_p.E7039*|NEB_ENST00000397345.3_Nonsense_Mutation_p.E7039*|NEB_ENST00000604864.1_Nonsense_Mutation_p.E7039*|NEB_ENST00000603639.1_Nonsense_Mutation_p.E7039*|NEB_ENST00000409198.1_Nonsense_Mutation_p.E5338*			P20929	NEBU_HUMAN	nebulin	5338					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.E5338*(1)|p.E7039*(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)		GTCAAGTCTTCTTTATATTTT	0.383																																					p.E7039X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G21115T	2						.						64.0	60.0	61.0					2																	152393738		1827	4083	5910	152101984	SO:0001587	stop_gained	4703	exon141			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.16012G>T	2.37:g.152393738C>A	ENSP00000172853:p.Glu5338*		152101984	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	57	28.172618	0.99973	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000420924	.	.	.	6.07	3.23	0.37069	.	0.135993	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.5888	0.56432	0.124:0.6376:0.2384:0.0	.	.	.	.	X	5338;7039;7039;1387;1769;5338;127	.	ENSP00000172853:E5338X	E	-	1	0	NEB	152101984	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	3.798000	0.55522	0.417000	0.25871	0.650000	0.86243	GAA		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152522908	152522908	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:152522908T>C	ENST00000172853.10	-	41	4874	c.4727A>G	c.(4726-4728)tAt>tGt	p.Y1576C	NEB_ENST00000427231.2_Missense_Mutation_p.Y1576C|NEB_ENST00000397345.3_Missense_Mutation_p.Y1576C|NEB_ENST00000604864.1_Missense_Mutation_p.Y1576C|NEB_ENST00000603639.1_Missense_Mutation_p.Y1576C|NEB_ENST00000409198.1_Missense_Mutation_p.Y1576C			P20929	NEBU_HUMAN	nebulin	1576					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.Y1576C(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTCCTTATATTTGCACTA	0.383																																					p.Y1576C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4727G	2						.						100.0	87.0	91.0					2																	152522908		1848	4090	5938	152231154	SO:0001583	missense	4703	exon41			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.4727A>G	2.37:g.152522908T>C	ENSP00000172853:p.Tyr1576Cys		152231154	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.160884	0.78226	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95530	0.8602	10	0.87932	D	0	.	16.0711	0.80936	0.0:0.0:0.0:1.0	.	1576	P20929	NEBU_HUMAN	C	1576	ENSP00000386259:Y1576C;ENSP00000380505:Y1576C;ENSP00000416578:Y1576C;ENSP00000172853:Y1576C	ENSP00000172853:Y1576C	Y	-	2	0	NEB	152231154	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.040000	0.89188	2.197000	0.70478	0.482000	0.46254	TAT		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NBAS	51594	broad.mit.edu	37	2	15557667	15557667	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:15557667C>A	ENST00000281513.5	-	24	2772	c.2747G>T	c.(2746-2748)aGa>aTa	p.R916I	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	916					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R916I(1)		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						CATCAGTAATCTTAGTTTTTC	0.323																																					p.R916I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2747T	2						.						71.0	65.0	67.0					2																	15557667		2203	4300	6503	15475118	SO:0001583	missense	51594	exon24			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.2747G>T	2.37:g.15557667C>A	ENSP00000281513:p.Arg916Ile		15475118	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706269|2.706269	0.48412|0.48412	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000429842|ENST00000281513	.|T	.|0.18174	.|2.23	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Secretory pathway Sec39 (1);	.|0.254644	.|0.43416	.|D	.|0.000574	T|T	0.18964|0.18964	0.0455|0.0455	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999996|0.999996	.|P	.|0.40875	.|0.731	.|B	.|0.36186	.|0.219	T|T	0.01212|0.01212	-1.1417|-1.1417	5|10	.|0.87932	.|D	.|0	.|.	13.1141|13.1141	0.59289|0.59289	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|916	.|A2RRP1	.|NBAS_HUMAN	N|I	13|916	.|ENSP00000281513:R916I	.|ENSP00000281513:R916I	K|R	-|-	3|2	2|0	NBAS|NBAS	15475118|15475118	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.859000|0.859000	0.49053|0.49053	2.399000|2.399000	0.44495|0.44495	2.715000|2.715000	0.92844|0.92844	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
FMNL2	114793	broad.mit.edu	37	2	153484972	153484972	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:153484972C>T	ENST00000475377.2	+	5	650	c.450C>T	c.(448-450)atC>atT	p.I150I	FMNL2_ENST00000288670.9_Silent_p.I775I			Q96PY5	FMNL2_HUMAN	formin-like 2	775	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.I775I(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						TTAGTAAAATCGAGAGGCTCA	0.483																																					p.I775I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2325T	2						.						132.0	137.0	135.0					2																	153484972		2089	4232	6321	153193218	SO:0001819	synonymous_variant	114793	exon18			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	ENST00000475377.2:c.450C>T	2.37:g.153484972C>T			153193218	NM_052905	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000475377.2	37																																																																																					0.483	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905	
UPP2	151531	broad.mit.edu	37	2	158978037	158978037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:158978037G>T	ENST00000005756.4	+	5	765	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	UPP2_ENST00000409859.4_Nonsense_Mutation_p.E248*|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000605860.1_Nonsense_Mutation_p.E248*	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	191					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.E191*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ACTGGACAAAGAACTGTCTGA	0.413																																					p.E248X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G742T	2						.						181.0	177.0	178.0					2																	158978037		2203	4299	6502	158686283	SO:0001587	stop_gained	151531	exon7			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.571G>T	2.37:g.158978037G>T	ENSP00000005756:p.Glu191*		158686283	NM_001135098	B3KV87	Nonsense_Mutation	SNP	ENST00000005756.4	37	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947026	0.73672	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	.	.	.	5.62	3.81	0.43845	.	0.419090	0.27946	N	0.017205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	15.1982	0.73112	0.0:0.2675:0.7325:0.0	.	.	.	.	X	248;191	.	ENSP00000005756:E191X	E	+	1	0	UPP2	158686283	1.000000	0.71417	0.993000	0.49108	0.014000	0.08584	4.795000	0.62489	0.726000	0.32339	-0.264000	0.10439	GAA		0.413	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355	
TANC1	85461	broad.mit.edu	37	2	160005721	160005721	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:160005721T>G	ENST00000263635.6	+	6	670	c.433T>G	c.(433-435)Tta>Gta	p.L145V	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	145					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.L145V(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						GCTGGGATTTTTACTGGGAGA	0.458																																					p.L145V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T433G	2						.						129.0	124.0	125.0					2																	160005721		1882	4103	5985	159713967	SO:0001583	missense	85461	exon6			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.433T>G	2.37:g.160005721T>G	ENSP00000263635:p.Leu145Val		159713967	NM_033394	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115743	0.77323	.	.	ENSG00000115183	ENST00000263635	T	0.54675	0.56	5.83	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.69360	0.3102	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.991;0.998	T	0.71094	-0.4692	10	0.87932	D	0	.	9.3196	0.37955	0.0:0.1398:0.0:0.8602	.	144;145	B9EK39;Q9C0D5	.;TANC1_HUMAN	V	145	ENSP00000263635:L145V	ENSP00000263635:L145V	L	+	1	2	TANC1	159713967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.196000	0.42686	0.986000	0.38683	0.533000	0.62120	TTA		0.458	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
WDSUB1	151525	broad.mit.edu	37	2	160139514	160139514	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:160139514A>G	ENST00000409990.3	-	2	323	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	WDSUB1_ENST00000358147.4_Missense_Mutation_p.S23P|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S23P|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S23P|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S23P	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	23							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GCCAAGAGGGAAAAGGAGAAG	0.413																																					p.S23P												.	.	0			c.T67C	2						.						115.0	111.0	112.0					2																	160139514		2203	4300	6503	159847760	SO:0001583	missense	151525	exon2			AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.67T>C	2.37:g.160139514A>G	ENSP00000387078:p.Ser23Pro		159847760	NM_152528	Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191495	0.58017	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.61392	3.52;0.11;3.52;3.52;0.11	5.54	1.75	0.24633	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.520153	0.23591	N	0.046560	T	0.49338	0.1551	L	0.41124	1.26	0.20764	N	0.99985	P;B;B	0.42337	0.776;0.006;0.01	P;B;B	0.44422	0.449;0.019;0.04	T	0.41179	-0.9523	10	0.59425	D	0.04	.	8.487	0.33078	0.6239:0.2546:0.0:0.1215	.	23;23;23	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	P	23	ENSP00000352820:S23P;ENSP00000350866:S23P;ENSP00000376545:S23P;ENSP00000387078:S23P;ENSP00000386891:S23P	ENSP00000350866:S23P	S	-	1	0	WDSUB1	159847760	0.030000	0.19436	0.289000	0.24876	0.993000	0.82548	0.413000	0.21148	0.059000	0.16252	0.528000	0.53228	TCC		0.413	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528	
TANK	10010	broad.mit.edu	37	2	162091890	162091890	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:162091890C>T	ENST00000392749.2	+	8	1378	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	TANK_ENST00000259075.2_Missense_Mutation_p.S380L|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_3'UTR|TANK_ENST00000406287.1_3'UTR|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.R406W	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	380					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S380L(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GACAGTGACTCGGTGGTACTA	0.418																																					p.S380L												.	.	3	Substitution - Missense(3)	large_intestine(2)|kidney(1)	c.C1139T	2						.						172.0	164.0	167.0					2																	162091890		2203	4300	6503	161800136	SO:0001583	missense	10010	exon8			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.1139C>T	2.37:g.162091890C>T	ENSP00000376505:p.Ser380Leu		161800136	NM_001199135	D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	ENST00000392749.2	37	CCDS2215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.058|5.058	0.196409|0.196409	0.09599|0.09599	.|.	.|.	ENSG00000136560|ENSG00000136560	ENST00000405852|ENST00000259075;ENST00000392749;ENST00000439442	T|T;T;T	0.35605|0.19806	1.3|2.12;2.12;2.18	5.63|5.63	4.38|4.38	0.52667|0.52667	.|.	.|0.153629	.|0.42294	.|N	.|0.000723	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.00960|0.00960	-1.095|-1.095	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.26985|0.26985	-1.0087|-1.0087	7|10	0.51188|0.02654	T|T	0.08|1	-4.8203|-4.8203	10.3619|10.3619	0.43998|0.43998	0.0:0.0855:0.0:0.9145|0.0:0.0855:0.0:0.9145	.|.	.|380	.|Q92844	.|TANK_HUMAN	W|L	406|380;380;153	ENSP00000385487:R406W|ENSP00000259075:S380L;ENSP00000376505:S380L;ENSP00000387439:S153L	ENSP00000385487:R406W|ENSP00000259075:S380L	R|S	+|+	1|2	2|0	TANK|TANK	161800136|161800136	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.864000|0.864000	0.49448|0.49448	2.765000|2.765000	0.47621|0.47621	0.845000|0.845000	0.35118|0.35118	-0.218000|-0.218000	0.12543|0.12543	CGG|TCG		0.418	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324232.1	NM_133484	
PSMD14	10213	broad.mit.edu	37	2	162247659	162247659	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:162247659T>G	ENST00000409682.3	+	9	1319	c.615T>G	c.(613-615)atT>atG	p.I205M		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	205					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)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|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 endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|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, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)	p.I205M(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						CCATTACTATTAACTATCGGA	0.244																																					p.I205M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T615G	2						.						17.0	16.0	17.0					2																	162247659		1747	3973	5720	161955905	SO:0001583	missense	10213	exon9			U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.615T>G	2.37:g.162247659T>G	ENSP00000386541:p.Ile205Met		161955905	NM_005805	B3KNW2|O00176	Missense_Mutation	SNP	ENST00000409682.3	37	CCDS46437.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210341	0.79240	.	.	ENSG00000115233	ENST00000409682	.	.	.	5.2	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.94101	3.495	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.80810	-0.1216	9	0.87932	D	0	.	3.1413	0.06456	0.0:0.3864:0.0:0.6136	.	205	O00487	PSDE_HUMAN	M	205	.	ENSP00000386541:I205M	I	+	3	3	PSMD14	161955905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.118000	0.71583	1.966000	0.57179	0.383000	0.25322	ATT		0.244	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805	
GCG	2641	broad.mit.edu	37	2	163000624	163000624	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:163000624G>T	ENST00000418842.2	-	5	703	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	GCG_ENST00000375497.3_Missense_Mutation_p.S150Y	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	150					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.S150Y(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						ATCAGAGAAAGAACCATCAGC	0.393																																					p.S150Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C449A	2						.						116.0	111.0	112.0					2																	163000624		1897	4126	6023	162708870	SO:0001583	missense	2641	exon5				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.449C>A	2.37:g.163000624G>T	ENSP00000387662:p.Ser150Tyr		162708870	NM_002054	A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	CCDS46439.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113149	0.77210	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.32272	1.46;1.46	5.75	5.75	0.90469	Glucagon/GIP/secretin/VIP (3);	0.172267	0.38492	N	0.001680	T	0.51500	0.1678	L	0.57536	1.79	0.44295	D	0.997168	D	0.76494	0.999	D	0.74348	0.983	T	0.50474	-0.8824	10	0.87932	D	0	-21.6438	14.5254	0.67884	0.0:0.1462:0.8538:0.0	.	150	P01275	GLUC_HUMAN	Y	150	ENSP00000387662:S150Y;ENSP00000364647:S150Y	ENSP00000364647:S150Y	S	-	2	0	GCG	162708870	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.514000	0.53422	2.717000	0.92951	0.650000	0.86243	TCT		0.393	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054	
COBLL1	22837	broad.mit.edu	37	2	165551796	165551796	+	Missense_Mutation	SNP	C	C	A	rs377161034		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:165551796C>A	ENST00000392717.2	-	13	2338	c.2334G>T	c.(2332-2334)aaG>aaT	p.K778N	COBLL1_ENST00000375458.2_Missense_Mutation_p.K702N|COBLL1_ENST00000409184.3_Missense_Mutation_p.K740N|COBLL1_ENST00000342193.4_Missense_Mutation_p.K740N|COBLL1_ENST00000194871.6_Missense_Mutation_p.K807N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	778						extracellular vesicular exosome (GO:0070062)		p.K740N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGGGTAATTCTTTAGGTAAG	0.363																																					p.K740N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2220T	2						.	C	ASN/LYS	0,4406		0,0,2203	167.0	170.0	169.0		2220	4.2	1.0	2		169	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBLL1	NM_014900.3	94	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	740/1167	165551796	1,13005	2203	4300	6503	165260042	SO:0001583	missense	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2334G>T	2.37:g.165551796C>A	ENSP00000376478:p.Lys778Asn		165260042	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	18.16	3.563045	0.65538	0.0	1.16E-4	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	4.23	0.50019	.	0.233173	0.37955	N	0.001865	T	0.59918	0.2229	L	0.58101	1.795	0.33416	D	0.579252	D;D;D	0.63880	0.969;0.969;0.993	P;P;P	0.58331	0.711;0.711;0.837	T	0.70189	-0.4940	9	0.48119	T	0.1	-10.5989	8.1049	0.30879	0.0:0.7102:0.0:0.2898	.	778;807;740	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	702;740;740;778;807	.	ENSP00000194871:K807N	K	-	3	2	COBLL1	165260042	0.157000	0.22836	0.987000	0.45799	0.948000	0.59901	0.201000	0.17276	1.553000	0.49476	0.557000	0.71058	AAG		0.363	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SLC38A11	151258	broad.mit.edu	37	2	165765237	165765237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:165765237G>T	ENST00000409149.3	-	10	1131	c.840C>A	c.(838-840)ttC>ttA	p.F280L	SLC38A11_ENST00000303735.4_Missense_Mutation_p.F258L|SLC38A11_ENST00000493887.1_5'Flank|SLC38A11_ENST00000409662.1_Missense_Mutation_p.F280L|SLC38A11_ENST00000409058.1_Missense_Mutation_p.F311L	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	280					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.F258L(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAACAATGTGGAAAACCGATG	0.408																																					p.F258L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C774A	2						.						87.0	79.0	82.0					2																	165765237		2203	4300	6503	165473483	SO:0001583	missense	151258	exon9				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.840C>A	2.37:g.165765237G>T	ENSP00000386272:p.Phe280Leu		165473483	NM_173512	B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	G	4.962	0.178758	0.09443	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662;ENST00000424914	T;T;T;T;T	0.01918	4.56;4.56;4.56;4.56;4.56	5.73	3.94	0.45596	.	0.362296	0.36740	N	0.002440	T	0.01489	0.0048	N	0.05078	-0.115	0.37107	D	0.900157	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.55296	-0.8163	10	0.39692	T	0.17	-4.3928	10.1509	0.42794	0.1573:0.0:0.8427:0.0	.	280;258	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	L	258;280;311;280;101	ENSP00000306178:F258L;ENSP00000386272:F280L;ENSP00000387345:F311L;ENSP00000386774:F280L;ENSP00000401448:F101L	ENSP00000306178:F258L	F	-	3	2	SLC38A11	165473483	1.000000	0.71417	0.805000	0.32314	0.285000	0.27093	4.290000	0.59019	0.894000	0.36317	0.555000	0.69702	TTC		0.408	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512	
SCN3A	6328	broad.mit.edu	37	2	165947005	165947005	+	Silent	SNP	G	G	T	rs141161490	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:165947005G>T	ENST00000360093.3	-	28	6149	c.5658C>A	c.(5656-5658)gtC>gtA	p.V1886V	SCN3A_ENST00000409101.3_Silent_p.V1837V|SCN3A_ENST00000540861.1_Silent_p.V369V|SCN3A_ENST00000283254.7_Silent_p.V1886V|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1886					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.V1886V(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)	GCTCATAAGAGACTTTGGAGG	0.418																																					p.V1886V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5658A	2						.						72.0	67.0	68.0					2																	165947005		2203	4300	6503	165655251	SO:0001819	synonymous_variant	6328	exon28			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.5658C>A	2.37:g.165947005G>T			165655251	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37																																																																																					0.418	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
SCN1A	6323	broad.mit.edu	37	2	166897933	166897933	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:166897933A>C	ENST00000303395.4	-	13	2222	c.2223T>G	c.(2221-2223)ttT>ttG	p.F741L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.F741L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F730L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F713L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	741					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.F730L(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)	ATATGTTGGAAAATTTATACC	0.368																																					p.F713L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2139G	2						.						86.0	96.0	92.0					2																	166897933		2203	4300	6503	166606179	SO:0001583	missense	6323	exon13			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.2223T>G	2.37:g.166897933A>C	ENSP00000303540:p.Phe741Leu		166606179	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444401	0.83993	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96334	-3.98;-3.98;-3.96;-3.96	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	D	0.97676	0.9238	M	0.73753	2.245	0.58432	D	0.999999	D;D;B	0.67145	0.996;0.993;0.33	D;D;B	0.73380	0.98;0.956;0.084	D	0.97312	0.9938	10	0.32370	T	0.25	.	15.9597	0.79918	1.0:0.0:0.0:0.0	.	730;713;741	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	741;741;730;713	ENSP00000407030:F741L;ENSP00000303540:F741L;ENSP00000364554:F730L;ENSP00000386312:F713L	ENSP00000303540:F741L	F	-	3	2	SCN1A	166606179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.477000	0.81069	2.226000	0.72624	0.482000	0.46254	TTT		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166904194	166904194	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:166904194A>C	ENST00000303395.4	-	8	1112	c.1113T>G	c.(1111-1113)gcT>gcG	p.A371A	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.A371A|SCN1A_ENST00000375405.3_Silent_p.A371A|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A371A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	371					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.A371A(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)	AGGACAAAAAAGCCCAACTGA	0.403																																					p.A371A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1113G	2						.						114.0	116.0	116.0					2																	166904194		2203	4300	6503	166612440	SO:0001819	synonymous_variant	6323	exon8			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1113T>G	2.37:g.166904194A>C			166612440	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.403	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	167083197	167083197	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:167083197T>G	ENST00000409435.1	-	23	4277	c.4278A>C	c.(4276-4278)aaA>aaC	p.K1426N	SCN9A_ENST00000409672.1_Missense_Mutation_p.K1415N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.K1427N|SCN9A_ENST00000303354.6_Missense_Mutation_p.K1427N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1426					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)			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)	TATATTCATATTTGGGCTGCT	0.303																																					p.K1415N												.	.	0			c.A4245C	2						.						53.0	51.0	52.0					2																	167083197		1989	4189	6178	166791443	SO:0001583	missense	6335	exon24			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.4278A>C	2.37:g.167083197T>G	ENSP00000386330:p.Lys1426Asn		166791443	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754551	0.31046	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96104	-3.88;-3.91;-3.91;-3.91	5.46	-6.22	0.02058	.	0.611297	0.15743	N	0.246820	D	0.89371	0.6696	L	0.38175	1.15	0.20196	N	0.999928	B	0.22480	0.07	B	0.33799	0.17	T	0.79692	-0.1697	10	0.27082	T	0.32	.	5.1895	0.15203	0.2931:0.2878:0.0:0.4192	.	1415	E7EUN6	.	N	1415;1427;1427;1426	ENSP00000386306:K1415N;ENSP00000364536:K1427N;ENSP00000304748:K1427N;ENSP00000386330:K1426N	ENSP00000304748:K1427N	K	-	3	2	SCN9A	166791443	0.000000	0.05858	0.004000	0.12327	0.472000	0.32918	-0.993000	0.03720	-1.088000	0.03077	0.482000	0.46254	AAA		0.303	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167159616	167159616	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:167159616A>G	ENST00000409435.1	-	6	884	c.885T>C	c.(883-885)agT>agC	p.S295S	SCN9A_ENST00000409672.1_Silent_p.S295S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.S296S|SCN9A_ENST00000303354.6_Silent_p.S296S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	295					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.S295S(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)	AGTCTTCTTCACTCTCTAGGG	0.308																																					p.S295S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T885C	2						.						88.0	82.0	84.0					2																	167159616		1955	4206	6161	166867862	SO:0001819	synonymous_variant	6335	exon7			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.885T>C	2.37:g.167159616A>G			166867862	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	CCDS46441.1																																																																																				0.308	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN7A	6332	broad.mit.edu	37	2	167298178	167298178	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:167298178C>A	ENST00000409855.1	-	14	2011	c.1885G>T	c.(1885-1887)Gac>Tac	p.D629Y		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	629					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.D629Y(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)	AGGACCAAGTCTTTCAGGGCC	0.388																																					p.D629Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1885T	2						.						116.0	120.0	118.0					2																	167298178		2159	4289	6448	167006424	SO:0001583	missense	6332	exon14			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.1885G>T	2.37:g.167298178C>A	ENSP00000386796:p.Asp629Tyr		167006424	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223122	0.58668	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.98455	-4.94;-4.94	4.78	-0.183	0.13284	Ion transport (1);	0.549826	0.17125	N	0.186065	D	0.95287	0.8471	N	0.10837	0.055	0.30118	N	0.805916	D	0.57257	0.979	P	0.58331	0.837	D	0.91176	0.4972	10	0.87932	D	0	.	3.8609	0.08996	0.1647:0.4416:0.0:0.3937	.	629	Q01118	SCN7A_HUMAN	Y	629	ENSP00000386796:D629Y;ENSP00000413699:D629Y	ENSP00000259060:D629Y	D	-	1	0	SCN7A	167006424	1.000000	0.71417	0.024000	0.17045	0.013000	0.08279	4.072000	0.57563	-0.064000	0.13043	0.585000	0.79938	GAC		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
SCN7A	6332	broad.mit.edu	37	2	167322035	167322035	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:167322035T>G	ENST00000409855.1	-	8	1004	c.878A>C	c.(877-879)gAa>gCa	p.E293A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	293					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.E293A(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)	ATAAAAGTTTTCTGTTTCTGA	0.343																																					p.E293A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878C	2						.						31.0	29.0	29.0					2																	167322035		1810	4075	5885	167030281	SO:0001583	missense	6332	exon8			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.878A>C	2.37:g.167322035T>G	ENSP00000386796:p.Glu293Ala		167030281	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	8.824	0.938167	0.18206	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98164	-4.12;-4.15;-4.76	5.33	2.9	0.33743	Ion transport (1);	0.721055	0.12829	N	0.435778	D	0.94971	0.8373	L	0.51914	1.62	0.22982	N	0.998477	B	0.13145	0.007	B	0.14578	0.011	D	0.86696	0.1926	10	0.25751	T	0.34	.	1.1398	0.01762	0.1675:0.1339:0.1746:0.524	.	293	Q01118	SCN7A_HUMAN	A	293	ENSP00000386796:E293A;ENSP00000413699:E293A;ENSP00000403846:E293A	ENSP00000259060:E293A	E	-	2	0	SCN7A	167030281	0.013000	0.17824	0.684000	0.30055	0.727000	0.41649	0.066000	0.14489	0.930000	0.37217	0.477000	0.44152	GAA		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	168096388	168096388	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168096388T>C	ENST00000409728.1	+	7	1070	c.981T>C	c.(979-981)gtT>gtC	p.V327V	XIRP2_ENST00000409756.2_Silent_p.V294V|XIRP2_ENST00000409043.1_Silent_p.V294V|XIRP2_ENST00000409605.1_Silent_p.V72V|XIRP2_ENST00000409195.1_Silent_p.V294V|XIRP2_ENST00000420519.1_Silent_p.V327V|XIRP2_ENST00000295237.9_Silent_p.V294V|XIRP2_ENST00000409273.1_Silent_p.V72V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	119					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.V294V(7)|p.V327V(7)		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						GCAGCCAGGTTGGCACTTCAA	0.368																																					p.V327V												.	.	14	Substitution - coding silent(14)	kidney(12)|large_intestine(2)	c.T981C	2						.						84.0	85.0	85.0					2																	168096388		1865	4110	5975	167804634	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	ENST00000409728.1:c.981T>C	2.37:g.168096388T>C			167804634	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																																																																																				0.368	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168101105	168101105	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168101105A>C	ENST00000409195.1	+	9	3292	c.3203A>C	c.(3202-3204)aAa>aCa	p.K1068T	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1068T|XIRP2_ENST00000409273.1_Missense_Mutation_p.K846T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	893					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.K1068T(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						GATTCAATTAAATATTTTAGT	0.328																																					p.K846T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2537C	2						.						30.0	28.0	29.0					2																	168101105		1804	4068	5872	167809351	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.3203A>C	2.37:g.168101105A>C	ENSP00000386840:p.Lys1068Thr		167809351	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	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409754	0.62399	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03441	3.93;3.93;3.93	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00052	-1.2189	10	0.59425	D	0.04	-32.4183	15.6264	0.76863	1.0:0.0:0.0:0.0	.	893;893;846	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1068;1068;846	ENSP00000386840:K1068T;ENSP00000295237:K1068T;ENSP00000387255:K846T	ENSP00000295237:K1068T	K	+	2	0	XIRP2	167809351	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	AAA		0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168103002	168103002	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168103002T>C	ENST00000409195.1	+	9	5189	c.5100T>C	c.(5098-5100)ggT>ggC	p.G1700G	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G1700G|XIRP2_ENST00000409273.1_Silent_p.G1478G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1525					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.G1700G(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						AAAATGATGGTGACACAATTG	0.338																																					p.G1478G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4434C	2						.						125.0	121.0	122.0					2																	168103002		1887	4105	5992	167811248	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.5100T>C	2.37:g.168103002T>C			167811248	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																																																																																				0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115186	168115186	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168115186C>T	ENST00000409728.1	+	11	2318	c.2229C>T	c.(2227-2229)aaC>aaT	p.N743N	XIRP2_ENST00000409756.2_Silent_p.N710N|XIRP2_ENST00000409043.1_Silent_p.N710N|XIRP2_ENST00000409605.1_Silent_p.N488N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.N743N|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1261					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.N743N(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						ATAATAATAACAATTATGTAG	0.323																																					p.N743N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2229T	2						.						30.0	29.0	29.0					2																	168115186		1805	4054	5859	167823432	SO:0001819	synonymous_variant	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.2229C>T	2.37:g.168115186C>T			167823432	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																																																																																				0.323	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115682	168115682	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168115682T>G	ENST00000409728.1	+	11	2814	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	XIRP2_ENST00000409756.2_Missense_Mutation_p.F876V|XIRP2_ENST00000409043.1_Missense_Mutation_p.F876V|XIRP2_ENST00000409605.1_Missense_Mutation_p.F654V|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.F909V|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	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.F909V(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						TTTAAGGGAATTTGGAAAGGA	0.343																																					p.F909V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2725G	2						.						80.0	73.0	75.0					2																	168115682		1846	4088	5934	167823928	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.2725T>G	2.37:g.168115682T>G	ENSP00000386619:p.Phe909Val		167823928	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	.	.	.	.	.	.	.	.	.	.	T	6.431	0.447719	0.12223	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78126	-1.13;-1.14;-1.13;-1.14;-1.15	5.78	1.57	0.23409	.	.	.	.	.	T	0.62756	0.2454	.	.	.	0.22975	N	0.99848	B;B	0.28933	0.228;0.228	B;B	0.26969	0.052;0.075	T	0.53136	-0.8481	8	0.49607	T	0.09	.	3.8307	0.08873	0.1564:0.3011:0.0:0.5425	.	876;909	A4UGR9-4;A4UGR9-6	.;.	V	876;909;876;909;654	ENSP00000386454:F876V;ENSP00000386619:F909V;ENSP00000386724:F876V;ENSP00000415541:F909V;ENSP00000386981:F654V	ENSP00000386454:F876V	F	+	1	0	XIRP2	167823928	0.269000	0.24143	0.877000	0.34402	0.305000	0.27757	-0.327000	0.07955	0.283000	0.22279	0.454000	0.30748	TTT		0.343	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168115752	168115752	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:168115752T>G	ENST00000409728.1	+	11	2884	c.2795T>G	c.(2794-2796)tTt>tGt	p.F932C	XIRP2_ENST00000409756.2_Missense_Mutation_p.F899C|XIRP2_ENST00000409043.1_Missense_Mutation_p.F899C|XIRP2_ENST00000409605.1_Missense_Mutation_p.F677C|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.F932C|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR	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.F932C(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						AACACAGGTTTTGATGCTCTG	0.423																																					p.F932C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2795G	2						.						92.0	85.0	88.0					2																	168115752		1901	4133	6034	167823998	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.2795T>G	2.37:g.168115752T>G	ENSP00000386619:p.Phe932Cys		167823998	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	.	.	.	.	.	.	.	.	.	.	T	11.86	1.764532	0.31228	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.78364	-1.16;-1.17;-1.16;-1.17;-1.17	5.91	0.493	0.16878	.	.	.	.	.	T	0.64983	0.2648	.	.	.	0.09310	N	1	B;B	0.17667	0.006;0.023	B;B	0.14578	0.004;0.011	T	0.55438	-0.8141	8	0.87932	D	0	.	5.1221	0.14865	0.0:0.1658:0.2828:0.5514	.	899;932	A4UGR9-4;A4UGR9-6	.;.	C	899;932;899;932;677	ENSP00000386454:F899C;ENSP00000386619:F932C;ENSP00000386724:F899C;ENSP00000415541:F932C;ENSP00000386981:F677C	ENSP00000386454:F899C	F	+	2	0	XIRP2	167823998	0.006000	0.16342	0.001000	0.08648	0.012000	0.07955	0.611000	0.24268	-0.130000	0.11599	-0.417000	0.06048	TTT		0.423	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
LRP2	4036	broad.mit.edu	37	2	169985579	169985579	+	Missense_Mutation	SNP	G	G	T	rs267598995		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:169985579G>T	ENST00000263816.3	-	78	14029	c.13744C>A	c.(13744-13746)Ctc>Atc	p.L4582I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4582					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.L4582I(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)"""	CGTTTGAAGAGATTCCATTTT	0.303																																					p.L4582I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13744A	2						.						118.0	130.0	126.0					2																	169985579		2203	4300	6503	169693825	SO:0001583	missense	4036	exon78				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.13744C>A	2.37:g.169985579G>T	ENSP00000263816:p.Leu4582Ile		169693825	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	8.505	0.865118	0.17250	.	.	ENSG00000081479	ENST00000263816	D	0.89810	-2.57	5.75	3.38	0.38709	.	0.266746	0.44285	N	0.000475	T	0.67363	0.2885	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.58418	-0.7640	10	0.05351	T	0.99	.	4.4325	0.11535	0.4654:0.0:0.2186:0.316	.	4582	P98164	LRP2_HUMAN	I	4582	ENSP00000263816:L4582I	ENSP00000263816:L4582I	L	-	1	0	LRP2	169693825	1.000000	0.71417	0.995000	0.50966	0.844000	0.47949	3.964000	0.56780	0.440000	0.26502	-0.474000	0.04947	CTC		0.303	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170072805	170072805	+	Silent	SNP	G	G	A	rs137904820		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:170072805G>A	ENST00000263816.3	-	35	6069	c.5784C>T	c.(5782-5784)atC>atT	p.I1928I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1928					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.I1928I(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)"""	TCTGCTCTTCGATGTCAAGAG	0.498																																					p.I1928I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5784T	2						.						144.0	128.0	133.0					2																	170072805		2203	4300	6503	169781051	SO:0001819	synonymous_variant	4036	exon35				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.5784C>T	2.37:g.170072805G>A			169781051	NM_004525	O00711|Q16215	Silent	SNP	ENST00000263816.3	37	CCDS2232.1																																																																																				0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170127576	170127576	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:170127576G>A	ENST00000263816.3	-	16	2443	c.2158C>T	c.(2158-2160)Cgt>Tgt	p.R720C	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	720					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.R720C(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)"""	GGGATCCCACGAATAGCAACT	0.463																																					p.R720C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2158T	2						.						86.0	72.0	77.0					2																	170127576		2203	4300	6503	169835822	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.2158C>T	2.37:g.170127576G>A	ENSP00000263816:p.Arg720Cys		169835822	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057719	0.76074	.	.	ENSG00000081479	ENST00000263816	D	0.91996	-2.95	5.77	5.77	0.91146	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97268	0.9909	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	720	P98164	LRP2_HUMAN	C	720	ENSP00000263816:R720C	ENSP00000263816:R720C	R	-	1	0	LRP2	169835822	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	4.853000	0.62911	2.885000	0.99019	0.655000	0.94253	CGT		0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
FASTKD1	79675	broad.mit.edu	37	2	170402845	170402845	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:170402845C>A	ENST00000453153.2	-	8	1930	c.1584G>T	c.(1582-1584)atG>atT	p.M528I	FASTKD1_ENST00000453929.2_Missense_Mutation_p.M528I	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	528					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.M528I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TAATATCATCCATGAAATGCT	0.368																																					p.M528I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1584T	2						.						70.0	70.0	70.0					2																	170402845		2203	4300	6503	170111091	SO:0001583	missense	79675	exon8			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1584G>T	2.37:g.170402845C>A	ENSP00000400513:p.Met528Ile		170111091	NM_024622	Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.110009	0.00353	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.15487	2.43;2.42	4.78	2.91	0.33838	.	0.691151	0.16261	N	0.222260	T	0.09379	0.0231	L	0.39085	1.19	0.23855	N	0.996655	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.39418	-0.9615	10	0.06891	T	0.86	-1.0669	2.5965	0.04855	0.1522:0.5271:0.1481:0.1726	.	528;528	Q53R41-2;Q53R41	.;FAKD1_HUMAN	I	528	ENSP00000400513:M528I;ENSP00000403229:M528I	ENSP00000400513:M528I	M	-	3	0	FASTKD1	170111091	0.988000	0.35896	0.020000	0.16555	0.006000	0.05464	0.131000	0.15870	0.698000	0.31739	0.655000	0.94253	ATG		0.368	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622	
PHOSPHO2	493911	broad.mit.edu	37	2	170557689	170557689	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:170557689A>G	ENST00000359744.3	+	4	596	c.208A>G	c.(208-210)Aca>Gca	p.T70A	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	70							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)	p.T70A(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AAGAGCAGTGACATCATTGCC	0.348																																					p.T70A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A208G	2						.						111.0	111.0	111.0					2																	170557689		2203	4300	6503	170265935	SO:0001583	missense	493911	exon4			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.208A>G	2.37:g.170557689A>G	ENSP00000352782:p.Thr70Ala		170265935	NM_001199288	B2RC30|D3DPC7	Missense_Mutation	SNP	ENST00000359744.3	37	CCDS33319.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415545	0.25552	.	.	ENSG00000144362	ENST00000359744;ENST00000438710	T;T	0.42131	0.98;0.98	5.24	2.8	0.32819	HAD-like domain (1);	0.398571	0.25078	U	0.033308	T	0.28333	0.0700	L	0.39020	1.185	0.26799	N	0.969233	B	0.14438	0.01	B	0.16722	0.016	T	0.22243	-1.0222	10	0.15499	T	0.54	.	8.0184	0.30395	0.792:0.1367:0.0714:0.0	.	70	Q8TCD6	PHOP2_HUMAN	A	70	ENSP00000352782:T70A;ENSP00000411844:T70A	ENSP00000352782:T70A	T	+	1	0	PHOSPHO2	170265935	1.000000	0.71417	0.576000	0.28549	0.994000	0.84299	4.391000	0.59652	0.373000	0.24621	0.533000	0.62120	ACA		0.348	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333304.1	NM_001008489	
RAD51AP2	729475	broad.mit.edu	37	2	17696942	17696942	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:17696942G>T	ENST00000399080.2	-	1	2764	c.2741C>A	c.(2740-2742)tCa>tAa	p.S914*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	914								p.S914*(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)					AAAATCCTTTGAATTAGCTAT	0.299																																					p.S914X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2741A	2						.						41.0	41.0	41.0					2																	17696942		1799	4061	5860	17560423	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.2741C>A	2.37:g.17696942G>T	ENSP00000382030:p.Ser914*		17560423	NM_001099218		Nonsense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749977	0.96890	.	.	ENSG00000214842	ENST00000399080	.	.	.	5.62	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3586	5.395	0.16265	0.25:0.0:0.6005:0.1495	.	.	.	.	X	914	.	ENSP00000382030:S914X	S	-	2	0	RAD51AP2	17560423	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	1.641000	0.37197	0.774000	0.33427	-0.345000	0.07892	TCA		0.299	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
PDK1	5163	broad.mit.edu	37	2	173429762	173429762	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:173429762A>C	ENST00000282077.3	+	5	834	c.652A>C	c.(652-654)Agc>Cgc	p.S218R	PDK1_ENST00000543905.1_Missense_Mutation_p.S142R|PDK1_ENST00000410055.1_Missense_Mutation_p.S218R|PDK1_ENST00000392571.2_Missense_Mutation_p.S238R|PDK1_ENST00000544863.1_Missense_Mutation_p.S63R			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	218	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.S218R(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			ACACATTGGAAGCATAAATCC	0.308									Autosomal Dominant Polycystic Kidney Disease																												p.S218R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A652C	2						.						150.0	136.0	141.0					2																	173429762		2203	4299	6502	173138008	SO:0001583	missense	5163	exon5	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.652A>C	2.37:g.173429762A>C	ENSP00000282077:p.Ser218Arg		173138008	NM_002610	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383838	0.82792	.	.	ENSG00000152256	ENST00000443353;ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991;ENST00000439519	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.94	5.94	0.96194	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.077153	0.85682	D	0.000000	T	0.53981	0.1830	M	0.90198	3.095	0.80722	D	1	P;P	0.48834	0.916;0.607	P;P	0.52109	0.69;0.61	T	0.58775	-0.7577	10	0.25106	T	0.35	-17.8348	16.3939	0.83550	1.0:0.0:0.0:0.0	.	218;238	Q15118;E9PD65	PDK1_HUMAN;.	R	142;142;63;218;238;218;136;142	ENSP00000399558:S142R;ENSP00000438567:S142R;ENSP00000437502:S63R;ENSP00000282077:S218R;ENSP00000376352:S238R;ENSP00000386985:S218R;ENSP00000399160:S136R;ENSP00000388366:S142R	ENSP00000282077:S218R	S	+	1	0	PDK1	173138008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.114000	0.71560	2.276000	0.75962	0.455000	0.32223	AGC		0.308	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610	
SMC6	79677	broad.mit.edu	37	2	17902299	17902299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:17902299C>A	ENST00000448223.2	-	11	1122	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	SMC6_ENST00000381272.4_Nonsense_Mutation_p.E311*|SMC6_ENST00000402989.1_Nonsense_Mutation_p.E285*|SMC6_ENST00000351948.4_Nonsense_Mutation_p.E285*	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	285					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.E285*(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTCAATTTCATTGACCTAA	0.308																																					p.E285X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G853T	2						.						77.0	79.0	78.0					2																	17902299		2203	4297	6500	17765780	SO:0001587	stop_gained	79677	exon11			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.853G>T	2.37:g.17902299C>A	ENSP00000404092:p.Glu285*		17765780	NM_001142286	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Nonsense_Mutation	SNP	ENST00000448223.2	37	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896399	0.98548	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	.	.	.	5.97	5.97	0.96955	.	0.044218	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	20.0338	0.97549	0.0:1.0:0.0:0.0	.	.	.	.	X	285;285;311;285;311	.	ENSP00000323439:E285X	E	-	1	0	SMC6	17765780	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.237000	0.72345	2.836000	0.97738	0.655000	0.94253	GAA		0.308	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624	
GEN1	348654	broad.mit.edu	37	2	17962005	17962005	+	Missense_Mutation	SNP	C	C	T	rs150586336	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:17962005C>T	ENST00000381254.2	+	14	1740	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	GEN1_ENST00000317402.7_Missense_Mutation_p.S509L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	509					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.S509L(2)		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)					AAGTTAAATTCGGGGATTTCC	0.368								Homologous recombination																													p.S509L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1526T	2						.						76.0	75.0	75.0					2																	17962005		2203	4300	6503	17825486	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.1526C>T	2.37:g.17962005C>T	ENSP00000370653:p.Ser509Leu		17825486	NM_001130009	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.277944	0.00254	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.40225	1.9;1.9;1.04	5.46	1.37	0.22104	.	1.331230	0.05002	N	0.469266	T	0.09202	0.0227	N	0.00085	-2.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14008	-1.0488	10	0.25106	T	0.35	-0.0277	1.2389	0.01958	0.1381:0.159:0.2863:0.4166	.	509	Q17RS7	GEN_HUMAN	L	509;509;280;146	ENSP00000318977:S509L;ENSP00000370653:S509L;ENSP00000431542:S280L	ENSP00000318977:S509L	S	+	2	0	GEN1	17825486	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-0.077000	0.11394	0.414000	0.25790	-0.383000	0.06682	TCG		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
GEN1	348654	broad.mit.edu	37	2	17962312	17962312	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:17962312A>C	ENST00000381254.2	+	14	2047	c.1833A>C	c.(1831-1833)aaA>aaC	p.K611N	GEN1_ENST00000317402.7_Missense_Mutation_p.K611N|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	611					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.K611N(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)					ATGATTTAAAATCAGAAGTTG	0.383								Homologous recombination																													p.K611N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1833C	2						.						51.0	53.0	53.0					2																	17962312		2190	4298	6488	17825793	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.1833A>C	2.37:g.17962312A>C	ENSP00000370653:p.Lys611Asn		17825793	NM_001130009	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.338733	0.24253	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000536097	T;T	0.28666	1.6;1.6	5.29	-0.118	0.13547	.	0.707310	0.12193	N	0.491003	T	0.25195	0.0612	M	0.65975	2.015	0.09310	N	1	P	0.41313	0.745	B	0.38106	0.265	T	0.15235	-1.0444	10	0.22109	T	0.4	-4.8602	4.6439	0.12563	0.5259:0.0:0.3332:0.141	.	611	Q17RS7	GEN_HUMAN	N	611;611;248	ENSP00000318977:K611N;ENSP00000370653:K611N	ENSP00000318977:K611N	K	+	3	2	GEN1	17825793	0.785000	0.28726	0.132000	0.22025	0.443000	0.32047	0.290000	0.18975	0.106000	0.17784	0.533000	0.62120	AAA		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
EVX2	344191	broad.mit.edu	37	2	176948315	176948315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:176948315C>A	ENST00000308618.4	-	1	326	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	64					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E64*(1)		kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCGGGGAGTTCTCCCAGAGCG	0.632																																					p.E64X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G190T	2						.						41.0	48.0	45.0					2																	176948315		2203	4300	6503	176656561	SO:0001587	stop_gained	344191	exon1				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.190G>T	2.37:g.176948315C>A	ENSP00000312385:p.Glu64*		176656561	NM_001080458		Nonsense_Mutation	SNP	ENST00000308618.4	37	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	37	6.509922	0.97624	.	.	ENSG00000174279	ENST00000308618	.	.	.	5.84	5.84	0.93424	.	0.153691	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-25.7969	20.1278	0.97990	0.0:1.0:0.0:0.0	.	.	.	.	X	64	.	ENSP00000312385:E64X	E	-	1	0	EVX2	176656561	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	2.768000	0.95171	0.561000	0.74099	GAA		0.632	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1		
OSBPL6	114880	broad.mit.edu	37	2	179238714	179238714	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179238714C>T	ENST00000190611.4	+	15	1869	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V	OSBPL6_ENST00000409631.1_Missense_Mutation_p.A462V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A467V|OSBPL6_ENST00000359685.3_Missense_Mutation_p.A462V|OSBPL6_ENST00000357080.4_Missense_Mutation_p.A431V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A523V|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A502V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	498					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.A498V(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)			TTCTTTGATGCCCAAGAGGTG	0.483																																					p.A498V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1493T	2						.						145.0	130.0	135.0					2																	179238714		2203	4300	6503	178946960	SO:0001583	missense	114880	exon15			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.1493C>T	2.37:g.179238714C>T	ENSP00000190611:p.Ala498Val		178946960	NM_032523	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736496	0.96865	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.28069	2.0;1.94;1.63;2.02;1.94;1.94;2.0	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.61689	0.2367	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.999;0.997;0.998	D;D;D;D;D;D	0.97110	1.0;0.997;0.99;0.997;0.985;0.994	T	0.63919	-0.6528	10	0.87932	D	0	-14.3978	20.2182	0.98305	0.0:1.0:0.0:0.0	.	467;502;462;523;498;431	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	V	523;462;431;467;498;462;502	ENSP00000376293:A523V;ENSP00000352713:A462V;ENSP00000349591:A431V;ENSP00000387248:A467V;ENSP00000190611:A498V;ENSP00000386885:A462V;ENSP00000318723:A502V	ENSP00000190611:A498V	A	+	2	0	OSBPL6	178946960	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.747000	0.85070	2.785000	0.95823	0.655000	0.94253	GCC		0.483	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
PLEKHA3	65977	broad.mit.edu	37	2	179343206	179343206	+	5'Flank	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179343206G>T	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_Missense_Mutation_p.F7L|FKBP7_ENST00000424785.2_Missense_Mutation_p.F7L|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.F7L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATCTGAATAAGAAATGCATGG	0.507																																					p.F7L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C21A	2						.						120.0	141.0	134.0					2																	179343206		2203	4299	6502	179051452	SO:0001631	upstream_gene_variant	51661	exon1			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343206G>T	Exception_encountered		179051452	NM_181342	Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781655	0.31502	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	T;T	0.40225	1.04;1.05	5.46	-0.242	0.13039	.	1.643580	0.02938	N	0.140084	T	0.30759	0.0775	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.12967	-1.0527	10	0.21014	T	0.42	-22.9079	7.3479	0.26674	0.2254:0.3327:0.4419:0.0	.	7;7;7	B4DRE2;Q9Y680-3;Q9Y680-2	.;.;.	L	7	ENSP00000413152:F7L;ENSP00000415486:F7L	ENSP00000233092:F7L	F	-	3	2	FKBP7	179051452	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.124000	0.15728	0.006000	0.14734	-0.305000	0.09177	TTC		0.507	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
TTN	7273	broad.mit.edu	37	2	179398806	179398806	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179398806T>C	ENST00000591111.1	-	308	97837	c.97613A>G	c.(97612-97614)aAc>aGc	p.N32538S	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N34179S|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25239S|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25114S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25306S|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31611S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32538	Ig-like 143.				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.N31609S(1)|p.N25306S(1)|p.N25114S(1)|p.N25239S(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)			TTTCTCACTGTTCTCCAGCTG	0.413																																					p.T25114A												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A75340G	2						.						117.0	113.0	114.0					2																	179398806		1956	4149	6105	179107052	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97613A>G	2.37:g.179398806T>C	ENSP00000465570:p.Asn32538Ser		179107052	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	12.29	1.893212	0.33442	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46756	0.1409	N	0.17345	0.48	0.29734	N	0.837655	B;B;B;B	0.17465	0.022;0.022;0.022;0.022	B;B;B;B	0.17433	0.018;0.018;0.018;0.018	T	0.48352	-0.9043	9	0.87932	D	0	.	9.7721	0.40595	0.0:0.0818:0.0:0.9182	.	25114;25239;25306;32538	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	31611;25114;25306;25239;25111	ENSP00000343764:N31611S;ENSP00000434586:N25114S;ENSP00000340554:N25306S;ENSP00000352154:N25239S	ENSP00000340554:N25306S	N	-	2	0	TTN	179107052	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.171000	0.31896	2.175000	0.68902	0.397000	0.26171	AAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179425410	179425410	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179425410G>A	ENST00000591111.1	-	276	80750	c.80526C>T	c.(80524-80526)atC>atT	p.I26842I	TTN_ENST00000589042.1_Silent_p.I28483I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I19543I|TTN_ENST00000460472.2_Silent_p.I19418I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I19610I|TTN_ENST00000342992.6_Silent_p.I25915I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26842	Fibronectin type-III 95. {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.I19543I(1)|p.I25913I(1)|p.I19418I(1)|p.I19610I(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)			TGTAATAGTCGATATCTGCAC	0.458																																					p.S19418L												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C58253T	2						.						59.0	58.0	59.0					2																	179425410		1958	4154	6112	179133656	SO:0001819	synonymous_variant	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.80526C>T	2.37:g.179425410G>A			179133656	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																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427743	179427743	+	Missense_Mutation	SNP	C	C	T	rs72648217		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179427743C>T	ENST00000591111.1	-	276	78417	c.78193G>A	c.(78193-78195)Gaa>Aaa	p.E26065K	TTN_ENST00000589042.1_Missense_Mutation_p.E27706K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18766K|TTN_ENST00000460472.2_Missense_Mutation_p.E18641K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18833K|TTN_ENST00000342992.6_Missense_Mutation_p.E25138K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26065	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E18833K(1)|p.E25136K(1)|p.E18766K(1)|p.E18641K(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)			CATTTAACTTCGGGTTCTGGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22967	0.0		0.0	False		,,,				2504	0.001				p.P18640P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G55920A	2						.						127.0	126.0	127.0					2																	179427743		1932	4122	6054	179135989	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.78193G>A	2.37:g.179427743C>T	ENSP00000465570:p.Glu26065Lys		179135989	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	15.79	2.937124	0.52972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	6.04	5.15	0.70609	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57725	0.2073	L	0.37466	1.105	0.49389	D	0.999783	B;B;B;B	0.33841	0.428;0.428;0.428;0.287	B;B;B;B	0.29942	0.109;0.109;0.109;0.076	T	0.61584	-0.7033	9	0.87932	D	0	.	15.7069	0.77592	0.0:0.934:0.0:0.066	.	18641;18766;18833;26065	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25138;18641;18833;18766;18639	ENSP00000343764:E25138K;ENSP00000434586:E18641K;ENSP00000340554:E18833K;ENSP00000352154:E18766K	ENSP00000340554:E18833K	E	-	1	0	TTN	179135989	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.919000	0.63383	1.540000	0.49301	0.561000	0.74099	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179432957	179432957	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179432957C>T	ENST00000591111.1	-	276	73203	c.72979G>A	c.(72979-72981)Gaa>Aaa	p.E24327K	TTN_ENST00000589042.1_Missense_Mutation_p.E25968K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17028K|TTN_ENST00000460472.2_Missense_Mutation_p.E16903K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17095K|TTN_ENST00000342992.6_Missense_Mutation_p.E23400K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24327	Fibronectin type-III 76. {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.E23398K(1)|p.E17028K(1)|p.E17095K(1)|p.E16903K(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)			TATCTGTTTTCGGCAAATATT	0.423																																					p.P16902P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G50706A	2						.						147.0	143.0	144.0					2																	179432957		1862	4102	5964	179141203	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.72979G>A	2.37:g.179432957C>T	ENSP00000465570:p.Glu24327Lys		179141203	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	16.20	3.057281	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75824	0.3902	M	0.79258	2.445	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.76623	-0.2891	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	16903;17028;17095;24327	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23400;16903;17095;17028;16901	ENSP00000343764:E23400K;ENSP00000434586:E16903K;ENSP00000340554:E17095K;ENSP00000352154:E17028K	ENSP00000340554:E17095K	E	-	1	0	TTN	179141203	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.041000	0.70988	2.854000	0.98071	0.655000	0.94253	GAA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179434246	179434246	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179434246G>A	ENST00000591111.1	-	276	71914	c.71690C>T	c.(71689-71691)cCt>cTt	p.P23897L	TTN_ENST00000589042.1_Missense_Mutation_p.P25538L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16598L|TTN_ENST00000460472.2_Missense_Mutation_p.P16473L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16665L|TTN_ENST00000342992.6_Missense_Mutation_p.P22970L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23897	Ig-like 120.				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.P16598L(1)|p.P16665L(1)|p.P22968L(1)|p.P16473L(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)			TTCTGGTGTAGGACGACCTTT	0.403																																					p.L16473L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C49417T	2						.						97.0	84.0	88.0					2																	179434246		1887	4126	6013	179142492	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.71690C>T	2.37:g.179434246G>A	ENSP00000465570:p.Pro23897Leu		179142492	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	19.23	3.786793	0.70337	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91774	0.7398	H	0.97340	3.985	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	D	0.94317	0.7550	9	0.87932	D	0	.	19.4973	0.95079	0.0:0.0:1.0:0.0	.	16473;16598;16665;23897	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22970;16473;16665;16598;16471	ENSP00000343764:P22970L;ENSP00000434586:P16473L;ENSP00000340554:P16665L;ENSP00000352154:P16598L	ENSP00000340554:P16665L	P	-	2	0	TTN	179142492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.608000	0.88229	0.655000	0.94253	CCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179436439	179436439	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179436439T>C	ENST00000591111.1	-	276	69721	c.69497A>G	c.(69496-69498)gAc>gGc	p.D23166G	TTN_ENST00000589042.1_Missense_Mutation_p.D24807G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D15867G|TTN_ENST00000460472.2_Missense_Mutation_p.D15742G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15934G|TTN_ENST00000342992.6_Missense_Mutation_p.D22239G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23166					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.D22237G(1)|p.D15742G(1)|p.D15867G(1)|p.D15934G(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)			CCCTGGTTTGTCAAGAACGAT	0.448																																					p.T15742A												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.A47224G	2						.						100.0	95.0	97.0					2																	179436439		1915	4110	6025	179144685	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.69497A>G	2.37:g.179436439T>C	ENSP00000465570:p.Asp23166Gly		179144685	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	13.83	2.355523	0.41700	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.93	5.93	0.95920	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62134	0.2403	M	0.65677	2.01	0.80722	D	1	P;P;P;P	0.52316	0.952;0.952;0.952;0.952	P;P;P;P	0.49477	0.612;0.612;0.612;0.612	T	0.67059	-0.5766	9	0.87932	D	0	.	16.3709	0.83357	0.0:0.0:0.0:1.0	.	15742;15867;15934;23166	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	22239;15742;15934;15867;15740	ENSP00000343764:D22239G;ENSP00000434586:D15742G;ENSP00000340554:D15934G;ENSP00000352154:D15867G	ENSP00000340554:D15934G	D	-	2	0	TTN	179144685	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.261000	0.74972	0.528000	0.53228	GAC		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179596918	179596918	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179596918G>T	ENST00000591111.1	-	55	16051	c.15827C>A	c.(15826-15828)tCt>tAt	p.S5276Y	TTN_ENST00000589042.1_Missense_Mutation_p.S5593Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4349Y			Q8WZ42	TITIN_HUMAN	titin	12094	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.S4349Y(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)			CTCCACAAAAGACATTCTGTG	0.448																																					p.S4349Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13046A	2						.						174.0	170.0	171.0					2																	179596918		1936	4143	6079	179305163	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.15827C>A	2.37:g.179596918G>T	ENSP00000465570:p.Ser5276Tyr		179305163	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.64	1.699459	0.30142	.	.	ENSG00000155657	ENST00000342992	T	0.68765	-0.35	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	0.82240	0.4994	M	0.75264	2.295	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.82281	-0.0535	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5276	Q8WZ42	TITIN_HUMAN	Y	4349	ENSP00000343764:S4349Y	ENSP00000343764:S4349Y	S	-	2	0	TTN	179305163	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.602000	0.61098	2.941000	0.99782	0.655000	0.94253	TCT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179604701	179604701	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:179604701C>A	ENST00000591111.1	-	46	12532	c.12308G>T	c.(12307-12309)aGa>aTa	p.R4103I	TTN_ENST00000589042.1_Missense_Mutation_p.R4420I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R4249I(1)|p.R4182I(1)|p.R4057I(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)			TTCAATATTTCTTAGCCACTC	0.473																																					p.R4057I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G12170T	2						.						93.0	95.0	94.0					2																	179604701		1951	4130	6081	179312946	SO:0001583	missense	7273	exon45			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12308G>T	2.37:g.179604701C>A	ENSP00000465570:p.Arg4103Ile		179312946	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	8.389	0.839256	0.16891	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.62105	0.11;0.06;0.05	5.56	4.68	0.58851	.	.	.	.	.	T	0.47266	0.1436	L	0.29908	0.895	0.31719	N	0.638484	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.18263	0.021;0.021;0.021	T	0.53865	-0.8378	9	0.87932	D	0	.	5.5304	0.16980	0.0:0.6117:0.1594:0.2289	.	4057;4182;4249	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4057;4249;4182;4057	ENSP00000434586:R4057I;ENSP00000340554:R4249I;ENSP00000352154:R4182I	ENSP00000340554:R4249I	R	-	2	0	TTN	179312946	0.338000	0.24775	1.000000	0.80357	0.489000	0.33432	1.718000	0.38001	1.365000	0.46057	-0.150000	0.13652	AGA		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ITGA4	3676	broad.mit.edu	37	2	182358103	182358103	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:182358103T>G	ENST00000397033.2	+	11	1635	c.1205T>G	c.(1204-1206)aTt>aGt	p.I402S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	402					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.I402S(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)	GCTATTTATATTTACAATGGC	0.348																																					p.I402S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1205G	2						.						113.0	106.0	109.0					2																	182358103		1859	4102	5961	182066348	SO:0001583	missense	3676	exon11				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.1205T>G	2.37:g.182358103T>G	ENSP00000380227:p.Ile402Ser		182066348	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473128	0.84640	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.62105	0.05;0.05	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.86331	0.5907	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90928	0.4788	10	0.87932	D	0	.	16.2005	0.82071	0.0:0.0:0.0:1.0	.	402	P13612	ITA4_HUMAN	S	402	ENSP00000380227:I402S;ENSP00000233573:I402S	ENSP00000233573:I402S	I	+	2	0	ITGA4	182066348	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.929000	0.75852	2.227000	0.72691	0.528000	0.53228	ATT		0.348	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
ITGA4	3676	broad.mit.edu	37	2	182394329	182394329	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:182394329C>A	ENST00000397033.2	+	23	2922	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	831					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.S831Y(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)	GTACCAAATTCTTTTAGCCCC	0.313																																					p.S831Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2492A	2						.						101.0	98.0	99.0					2																	182394329		1829	4087	5916	182102574	SO:0001583	missense	3676	exon23				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.2492C>A	2.37:g.182394329C>A	ENSP00000380227:p.Ser831Tyr		182102574	NM_000885	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891237	0.72524	.	.	ENSG00000115232	ENST00000397033	T	0.48201	0.82	5.74	4.84	0.62591	Integrin alpha-2 (1);	0.328980	0.36268	N	0.002684	T	0.57242	0.2040	L	0.51422	1.61	0.40031	D	0.975533	D	0.57257	0.979	P	0.55222	0.771	T	0.63014	-0.6731	10	0.72032	D	0.01	.	15.6347	0.76944	0.1385:0.8615:0.0:0.0	.	831	P13612	ITA4_HUMAN	Y	831	ENSP00000380227:S831Y	ENSP00000380227:S831Y	S	+	2	0	ITGA4	182102574	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.964000	0.56780	1.375000	0.46248	0.557000	0.71058	TCT		0.313	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
DNAJC10	54431	broad.mit.edu	37	2	183627513	183627513	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:183627513C>A	ENST00000264065.7	+	22	2665	c.2250C>A	c.(2248-2250)ttC>ttA	p.F750L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	750	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.F750L(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATTTTATTTCTACGAAAGAG	0.403																																					p.F750L	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2250A	2						.						115.0	113.0	114.0					2																	183627513		2203	4300	6503	183335758	SO:0001583	missense	54431	exon22				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2250C>A	2.37:g.183627513C>A	ENSP00000264065:p.Phe750Leu		183335758	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	4.049	0.006813	0.07866	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.38240	1.15	5.94	-0.341	0.12639	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.651748	0.15485	N	0.259849	T	0.12561	0.0305	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25710	-1.0124	10	0.09590	T	0.72	.	7.2848	0.26333	0.0:0.4883:0.3212:0.1905	.	704;750	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	L	750;704	ENSP00000264065:F750L	ENSP00000264065:F750L	F	+	3	2	DNAJC10	183335758	0.900000	0.30661	0.001000	0.08648	0.368000	0.29767	0.132000	0.15891	-0.368000	0.08040	0.563000	0.77884	TTC		0.403	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
ZC3H15	55854	broad.mit.edu	37	2	187370221	187370221	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:187370221C>A	ENST00000337859.6	+	7	988	c.761C>A	c.(760-762)tCt>tAt	p.S254Y	AC018867.2_ENST00000595956.1_5'Flank|ZC3H15_ENST00000544130.1_Missense_Mutation_p.S49Y	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	254	Required for interaction with DRG1. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S254Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACTCTAGAATCTTTTCTTGCC	0.368																																					p.S254Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C761A	2						.						81.0	80.0	80.0					2																	187370221		1834	4087	5921	187078466	SO:0001583	missense	55854	exon7				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.761C>A	2.37:g.187370221C>A	ENSP00000338788:p.Ser254Tyr		187078466	NM_018471	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624194	0.87560	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.33654	1.4	6.17	6.17	0.99709	.	0.145747	0.64402	D	0.000006	T	0.52386	0.1731	M	0.83603	2.65	0.53005	D	0.999969	D	0.56521	0.976	P	0.48030	0.564	T	0.59434	-0.7455	10	0.87932	D	0	-11.0559	17.262	0.87072	0.0:0.8668:0.1332:0.0	.	254	Q8WU90	ZC3HF_HUMAN	Y	254;49;254	ENSP00000338788:S254Y	ENSP00000338788:S254Y	S	+	2	0	ZC3H15	187078466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.750000	0.68712	2.941000	0.99782	0.655000	0.94253	TCT		0.368	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471	
ZC3H15	55854	broad.mit.edu	37	2	187370494	187370494	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:187370494C>T	ENST00000337859.6	+	8	1119	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	ZC3H15_ENST00000544130.1_Missense_Mutation_p.R93C	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	298					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R298C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GTTTGAATTTCGTCCTGAACT	0.418																																					p.R298C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C892T	2						.						141.0	132.0	135.0					2																	187370494		1984	4163	6147	187078739	SO:0001583	missense	55854	exon8				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.892C>T	2.37:g.187370494C>T	ENSP00000338788:p.Arg298Cys		187078739	NM_018471	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513987	0.64522	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.32988	1.43	6.17	5.29	0.74685	.	0.209823	0.51477	D	0.000088	T	0.32346	0.0826	L	0.55990	1.75	0.80722	D	1	B	0.18610	0.029	B	0.10450	0.005	T	0.05305	-1.0893	10	0.54805	T	0.06	-0.5749	15.9972	0.80260	0.0:0.935:0.0:0.065	.	298	Q8WU90	ZC3HF_HUMAN	C	298;93;298	ENSP00000338788:R298C	ENSP00000338788:R298C	R	+	1	0	ZC3H15	187078739	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.781000	0.55394	2.941000	0.99782	0.655000	0.94253	CGT		0.418	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471	
ZSWIM2	151112	broad.mit.edu	37	2	187693200	187693200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:187693200G>T	ENST00000295131.2	-	9	1452	c.1413C>A	c.(1411-1413)tgC>tgA	p.C471*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	471					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C471*(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTTGATAGAGCATAGATTAT	0.299																																					p.C471X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1413A	2						.						42.0	49.0	47.0					2																	187693200		2200	4298	6498	187401445	SO:0001587	stop_gained	151112	exon9			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1413C>A	2.37:g.187693200G>T	ENSP00000295131:p.Cys471*		187401445	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Nonsense_Mutation	SNP	ENST00000295131.2	37	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335014	0.41398	.	.	ENSG00000163012	ENST00000295131	.	.	.	5.6	2.55	0.30701	.	1.204280	0.05816	N	0.614780	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4896	8.2208	0.31541	0.0855:0.2903:0.6241:0.0	.	.	.	.	X	471	.	ENSP00000295131:C471X	C	-	3	2	ZSWIM2	187401445	0.000000	0.05858	0.053000	0.19242	0.228000	0.25075	-0.104000	0.10923	0.214000	0.20742	0.591000	0.81541	TGC		0.299	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
TFPI	7035	broad.mit.edu	37	2	188368393	188368393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:188368393C>A	ENST00000233156.3	-	2	397	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	TFPI_ENST00000339091.4_Nonsense_Mutation_p.E35*|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Nonsense_Mutation_p.E35*|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Nonsense_Mutation_p.E35*	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	35					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E35*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	ATTGTGTGTTCTTCATCTTCC	0.348																																					p.E35X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G103T	2						.						114.0	119.0	117.0					2																	188368393		2203	4300	6503	188076638	SO:0001587	stop_gained	7035	exon2				CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.103G>T	2.37:g.188368393C>A	ENSP00000233156:p.Glu35*		188076638	NM_006287	O95103|Q53TS4	Nonsense_Mutation	SNP	ENST00000233156.3	37	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.146342	0.97324	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055;ENST00000435414;ENST00000409676;ENST00000339091;ENST00000437725;ENST00000421427;ENST00000453013;ENST00000417013;ENST00000420747	.	.	.	5.31	4.42	0.53409	.	0.286853	0.27411	N	0.019490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	11.727	0.51714	0.0:0.8225:0.1775:0.0	.	.	.	.	X	35	.	ENSP00000233156:E35X	E	-	1	0	TFPI	188076638	0.349000	0.24870	0.360000	0.25837	0.467000	0.32768	1.190000	0.32126	1.442000	0.47568	0.655000	0.94253	GAA		0.348	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287	
GULP1	51454	broad.mit.edu	37	2	189452663	189452663	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:189452663T>G	ENST00000409580.1	+	12	1544	c.830T>G	c.(829-831)tTa>tGa	p.L277*	GULP1_ENST00000359135.3_Nonsense_Mutation_p.L277*|GULP1_ENST00000409843.1_Nonsense_Mutation_p.L277*|GULP1_ENST00000409805.1_Nonsense_Mutation_p.L174*|GULP1_ENST00000409609.1_Nonsense_Mutation_p.L277*|GULP1_ENST00000409830.1_Nonsense_Mutation_p.L277*			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	277					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)	p.L277*(1)		endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			CAATCAAAATTAGATGAGATG	0.373																																					p.L277X	Pancreas(178;563 2065 20199 42378 52815)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T830G	2						.						78.0	78.0	78.0					2																	189452663		2203	4300	6503	189160908	SO:0001587	stop_gained	51454	exon11			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.830T>G	2.37:g.189452663T>G	ENSP00000386289:p.Leu277*		189160908	NM_016315	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Nonsense_Mutation	SNP	ENST00000409580.1	37	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.658325|4.658325	0.88154|0.88154	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609|ENST00000451191;ENST00000433052	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.182079|.	0.38326|.	N|.	0.001735|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-7.0442|-7.0442	15.2228|15.2228	0.73327|0.73327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|E	277;277;174;277;277;277|102;162	.|.	ENSP00000352047:L277X|.	L|X	+|+	2|1	0|0	GULP1|GULP1	189160908|189160908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.698000|7.698000	0.84413|0.84413	2.198000|2.198000	0.70561|0.70561	0.482000|0.482000	0.46254|0.46254	TTA|TAG		0.373	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315	
COL3A1	1281	broad.mit.edu	37	2	189854843	189854843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:189854843C>T	ENST00000304636.3	+	9	882	c.712C>T	c.(712-714)Cga>Tga	p.R238*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R238*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGACCCGGACGACCTGGAGA	0.383																																					p.R238X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C712T	2						.						71.0	73.0	72.0					2																	189854843		2203	4300	6503	189563088	SO:0001587	stop_gained	1281	exon9			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.712C>T	2.37:g.189854843C>T	ENSP00000304408:p.Arg238*		189563088	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.349121	0.97494	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.68	2.7	0.31948	.	0.000000	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.3924	0.74755	0.6901:0.3099:0.0:0.0	.	.	.	.	X	238	.	ENSP00000304408:R238X	R	+	1	2	COL3A1	189563088	0.432000	0.25554	0.966000	0.40874	0.935000	0.57460	1.056000	0.30480	0.328000	0.23435	0.591000	0.81541	CGA		0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:192234334C>T	ENST00000392318.3	+	12	1346	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_ENST00000304164.4_Nonsense_Mutation_p.R367*|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.R367*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.R367*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	367	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.R367*(2)		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)			GTTGGTAAATCGAATCAATGA	0.318																																					p.R367X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1099T	2						.						73.0	73.0	73.0					2																	192234334		2203	4300	6503	191942579	SO:0001587	stop_gained	4430	exon12			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.1099C>T	2.37:g.192234334C>T	ENSP00000376132:p.Arg367*		191942579	NM_012223	O43794|Q7Z6L5	Nonsense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	C	37	6.255787	0.97417	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2594	0.54642	0.2139:0.7861:0.0:0.0	.	.	.	.	X	367	.	ENSP00000306382:R367X	R	+	1	2	MYO1B	191942579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.934000	0.48956	2.565000	0.86533	0.655000	0.94253	CGA		0.318	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
SDPR	8436	broad.mit.edu	37	2	192701020	192701020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:192701020G>A	ENST00000304141.4	-	2	1236	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_004657.5	NP_004648.1			serum deprivation response									p.R303*(1)		NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TCTCCCTCTCGGACTTTCTTC	0.488																																					p.R303X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C907T	2						.						100.0	109.0	106.0					2																	192701020		2203	4300	6503	192409265	SO:0001587	stop_gained	8436	exon2			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.907C>T	2.37:g.192701020G>A	ENSP00000305675:p.Arg303*		192409265	NM_004657		Nonsense_Mutation	SNP	ENST00000304141.4	37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	36	5.612045	0.96637	.	.	ENSG00000168497	ENST00000304141	.	.	.	5.01	4.12	0.48240	.	0.389998	0.26586	N	0.023550	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8234	14.7254	0.69341	0.0:0.0:0.8542:0.1458	.	.	.	.	X	303	.	ENSP00000305675:R303X	R	-	1	2	SDPR	192409265	0.991000	0.36638	0.999000	0.59377	0.080000	0.17528	3.592000	0.53993	1.317000	0.45149	0.563000	0.77884	CGA		0.488	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
DNAH7	56171	broad.mit.edu	37	2	196605508	196605508	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:196605508A>C	ENST00000312428.6	-	64	11950	c.11850T>G	c.(11848-11850)ctT>ctG	p.L3950L	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Silent_p.L433L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3950					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L3950L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGTATCATAAAGAATTTTGG	0.284																																					p.L3950L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T11850G	2						.						94.0	89.0	91.0					2																	196605508		1787	4066	5853	196313753	SO:0001819	synonymous_variant	56171	exon64			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11850T>G	2.37:g.196605508A>C			196313753	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	8.775	0.926948	0.18056	.	.	ENSG00000118997	ENST00000438565	.	.	.	4.83	-2.41	0.06562	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	5	0.87932	D	0	.	6.4786	0.22049	0.4817:0.3683:0.15:0.0	.	.	.	.	C	51	.	ENSP00000409732:F51C	F	-	2	0	DNAH7	196313753	0.984000	0.35163	0.997000	0.53966	0.978000	0.69477	0.122000	0.15687	-0.149000	0.11215	-0.263000	0.10527	TTT		0.284	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
DNAH7	56171	broad.mit.edu	37	2	196636561	196636561	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:196636561G>A	ENST00000312428.6	-	61	11356	c.11256C>T	c.(11254-11256)gtC>gtT	p.V3752V	DNAH7_ENST00000409063.1_Silent_p.V235V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3752					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V3752V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTCACTAGCGACCTCATTCA	0.428																																					p.V3752V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11256T	2						.						246.0	221.0	229.0					2																	196636561		1985	4159	6144	196344806	SO:0001819	synonymous_variant	56171	exon61			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11256C>T	2.37:g.196636561G>A			196344806	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.428	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	broad.mit.edu	37	2	197080630	197080630	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:197080630T>G	ENST00000260983.3	-	28	4748	c.4566A>C	c.(4564-4566)agA>agC	p.R1522S	snoU13_ENST00000459047.1_RNA|HECW2_ENST00000409111.1_Missense_Mutation_p.R1166S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1522	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1522S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCACACAGAATCTTCTTGGGC	0.413																																					p.R1522S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4566C	2						.						82.0	81.0	82.0					2																	197080630		2203	4300	6503	196788875	SO:0001583	missense	57520	exon28			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4566A>C	2.37:g.197080630T>G	ENSP00000260983:p.Arg1522Ser		196788875	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.687426	0.68157	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57595	0.39;0.39	5.35	-0.906	0.10524	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.58583	1.82	0.58432	D	0.999992	D	0.69078	0.997	D	0.80764	0.994	T	0.58702	-0.7590	10	0.66056	D	0.02	.	7.923	0.29857	0.0:0.392:0.1145:0.4936	.	1522	Q9P2P5	HECW2_HUMAN	S	1166;1522	ENSP00000386775:R1166S;ENSP00000260983:R1522S	ENSP00000260983:R1522S	R	-	3	2	HECW2	196788875	0.111000	0.22076	0.993000	0.49108	0.994000	0.84299	-0.650000	0.05378	-0.292000	0.08999	-0.250000	0.11733	AGA		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
GTF3C3	9330	broad.mit.edu	37	2	197645342	197645342	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:197645342C>A	ENST00000263956.3	-	9	1248	c.1159G>T	c.(1159-1161)Gat>Tat	p.D387Y	GTF3C3_ENST00000409364.3_Missense_Mutation_p.D387Y	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	387					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)	DNA binding (GO:0003677)	p.D387Y(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACTGTGATATCTATTGGCACG	0.398																																					p.D387Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1159T	2						.						161.0	136.0	145.0					2																	197645342		2203	4300	6503	197353587	SO:0001583	missense	9330	exon9			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1159G>T	2.37:g.197645342C>A	ENSP00000263956:p.Asp387Tyr		197353587	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234456	0.79800	.	.	ENSG00000119041	ENST00000263956;ENST00000448087;ENST00000409364	T;T	0.60672	0.43;0.17	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.78091	-0.2339	10	0.87932	D	0	-29.7859	19.3887	0.94570	0.0:1.0:0.0:0.0	.	387;387	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	Y	387;72;387	ENSP00000263956:D387Y;ENSP00000386465:D387Y	ENSP00000263956:D387Y	D	-	1	0	GTF3C3	197353587	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	6.726000	0.74758	2.826000	0.97356	0.655000	0.94253	GAT		0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		
SF3B1	23451	broad.mit.edu	37	2	198272801	198272801	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:198272801C>T	ENST00000335508.6	-	9	1251	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	387	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R387Q(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTTCCCACCGCCAAGCCTG	0.363			Mis		myelodysplastic syndrome																																p.R387Q			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	2						.						77.0	74.0	75.0					2																	198272801		2203	4300	6503	197981046	SO:0001583	missense	23451	exon9			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1160G>A	2.37:g.198272801C>T	ENSP00000335321:p.Arg387Gln		197981046	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834903	0.91036	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.69	5.69	0.88448	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.81239	2.535	0.80722	D	1	P	0.42039	0.769	B	0.36186	0.219	T	0.72394	-0.4307	9	0.54805	T	0.06	.	19.8199	0.96589	0.0:1.0:0.0:0.0	.	387	O75533	SF3B1_HUMAN	Q	387	.	ENSP00000335321:R387Q	R	-	2	0	SF3B1	197981046	1.000000	0.71417	0.976000	0.42696	0.974000	0.67602	7.683000	0.84093	2.677000	0.91161	0.655000	0.94253	CGG		0.363	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
MARS2	92935	broad.mit.edu	37	2	198571048	198571048	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:198571048A>C	ENST00000282276.6	+	1	962	c.919A>C	c.(919-921)Atc>Ctc	p.I307L	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	307					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.I307L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CACCTCTCATATCATAGGTAA	0.522																																					p.I307L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A919C	2						.						83.0	87.0	86.0					2																	198571048		2203	4300	6503	198279293	SO:0001583	missense	92935	exon1			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.919A>C	2.37:g.198571048A>C	ENSP00000282276:p.Ile307Leu		198279293	NM_138395	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691691	0.30052	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.42900	0.96	5.26	1.66	0.24008	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.293824	0.35936	N	0.002898	T	0.17662	0.0424	N	0.11341	0.13	0.35933	D	0.832633	B	0.24186	0.099	B	0.31869	0.137	T	0.26224	-1.0109	10	0.02654	T	1	-12.303	4.0374	0.09735	0.5463:0.1773:0.2763:0.0	.	307	Q96GW9	SYMM_HUMAN	L	307;234	ENSP00000282276:I307L	ENSP00000282276:I307L	I	+	1	0	MARS2	198279293	0.027000	0.19231	0.984000	0.44739	0.997000	0.91878	0.248000	0.18198	0.340000	0.23745	0.533000	0.62120	ATC		0.522	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395	
PLCL1	5334	broad.mit.edu	37	2	198950155	198950155	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:198950155C>A	ENST00000428675.1	+	2	2312	c.1914C>A	c.(1912-1914)ttC>ttA	p.F638L	PLCL1_ENST00000437704.2_Missense_Mutation_p.F540L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	638	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				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.F540L(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)	ATAAGAAGTTCTTATCAAGAA	0.378																																					p.F638L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1914A	2						.						36.0	39.0	38.0					2																	198950155		2202	4300	6502	198658400	SO:0001583	missense	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.1914C>A	2.37:g.198950155C>A	ENSP00000402861:p.Phe638Leu		198658400	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203532	0.38905	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.51574	0.7;0.7	5.36	3.58	0.41010	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.64402	D	0.000001	T	0.54464	0.1860	M	0.79926	2.475	0.44595	D	0.997568	P;P	0.51933	0.949;0.949	P;P	0.50537	0.643;0.643	T	0.55186	-0.8180	9	.	.	.	.	6.1788	0.20459	0.0:0.6114:0.0:0.3886	.	638;564	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	638;540	ENSP00000402861:F638L;ENSP00000414138:F540L	.	F	+	3	2	PLCL1	198658400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.177000	0.31969	0.838000	0.34948	0.561000	0.74099	TTC		0.378	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
C2orf69	205327	broad.mit.edu	37	2	200790404	200790404	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:200790404A>C	ENST00000319974.5	+	2	1136	c.953A>C	c.(952-954)aAa>aCa	p.K318T	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	318						extracellular region (GO:0005576)		p.K318T(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GAAGTCTTGAAAGAATTTGCA	0.378																																					p.K318T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A953C	2						.						110.0	104.0	106.0					2																	200790404		1886	4113	5999	200498649	SO:0001583	missense	205327	exon2				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.953A>C	2.37:g.200790404A>C	ENSP00000312770:p.Lys318Thr		200498649	NM_153689	Q8NE30	Missense_Mutation	SNP	ENST00000319974.5	37	CCDS46482.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124774	0.56613	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.63	4.49	0.54785	.	0.278401	0.41500	D	0.000873	T	0.63070	0.2480	L	0.53249	1.67	0.39030	D	0.959916	D	0.54772	0.968	P	0.55303	0.773	T	0.67795	-0.5578	9	0.59425	D	0.04	-8.7272	10.2873	0.43575	0.9233:0.0:0.0767:0.0	.	318	Q8N8R5	CB069_HUMAN	T	318	.	ENSP00000312770:K318T	K	+	2	0	C2orf69	200498649	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.246000	0.51414	2.130000	0.65690	0.533000	0.62120	AAA		0.378	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689	
SGOL2	151246	broad.mit.edu	37	2	201434543	201434543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:201434543G>T	ENST00000357799.4	+	6	729	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	SGOL2_ENST00000409203.3_Nonsense_Mutation_p.E211*	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	211					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E211*(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTCTTAAAGAAAATAATCA	0.299																																					p.E211X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G631T	2						.						97.0	97.0	97.0					2																	201434543		1806	4064	5870	201142788	SO:0001587	stop_gained	151246	exon6			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.631G>T	2.37:g.201434543G>T	ENSP00000350447:p.Glu211*		201142788	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP	ENST00000357799.4	37	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018160	0.35606	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	.	.	.	5.31	4.35	0.52113	.	0.089608	0.49305	D	0.000159	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-25.8304	8.0144	0.30372	0.1107:0.0:0.8893:0.0	.	.	.	.	X	211	.	ENSP00000350447:E211X	E	+	1	0	SGOL2	201142788	0.995000	0.38212	1.000000	0.80357	0.250000	0.25880	1.890000	0.39728	2.747000	0.94245	0.585000	0.79938	GAA		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
INO80D	54891	broad.mit.edu	37	2	206869647	206869647	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:206869647G>T	ENST00000403263.1	-	11	2933	c.2529C>A	c.(2527-2529)atC>atA	p.I843I	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	843					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I843I(1)|p.I738I(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGGGAGAGGTGATATGGTCAC	0.512																																					p.I843I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2529A	2						.						224.0	210.0	215.0					2																	206869647		2135	4250	6385	206577892	SO:0001819	synonymous_variant	54891	exon11				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2529C>A	2.37:g.206869647G>T			206577892	NM_017759	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	CCDS46500.1																																																																																				0.512	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759	
AC010731.4	0	broad.mit.edu	37	2	207509129	207509129	+	lincRNA	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:207509129C>A	ENST00000543490.1	+	0	344																											CTCAGTGCTTCTCCTGGAAAT	0.488																																					p.L57I												.	.	0			c.C169A	2						.						62.0	61.0	61.0					2																	207509129		1944	4160	6104	207217374			200726	exon2																															2.37:g.207509129C>A			207217374	NM_001102659		Missense_Mutation	SNP	ENST00000543490.1	37																																																																																					0.488	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA			
DYTN	391475	broad.mit.edu	37	2	207564577	207564577	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:207564577G>T	ENST00000452335.2	-	7	709	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	DYTN_ENST00000477734.1_5'UTR|Y_RNA_ENST00000384589.1_RNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	198						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S198Y(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTGGACCCAAGACAGGAATTT	0.483																																					p.S198Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C593A	2						.						78.0	81.0	80.0					2																	207564577		1905	4136	6041	207272822	SO:0001583	missense	391475	exon7			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.593C>A	2.37:g.207564577G>T	ENSP00000396593:p.Ser198Tyr		207272822	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824085	0.50739	.	.	ENSG00000232125	ENST00000452335	T	0.73575	-0.76	5.89	3.07	0.35406	EF-hand domain, type 2 (1);	.	.	.	.	T	0.79592	0.4472	L	0.42245	1.32	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.66952	-0.5793	9	0.59425	D	0.04	-2.8466	9.4343	0.38628	0.0744:0.307:0.6186:0.0	.	198	A2CJ06	DYTN_HUMAN	Y	198	ENSP00000396593:S198Y	ENSP00000396593:S198Y	S	-	2	0	DYTN	207272822	0.950000	0.32346	0.038000	0.18304	0.693000	0.40251	1.894000	0.39768	0.795000	0.33922	0.561000	0.74099	TCT		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
PIKFYVE	200576	broad.mit.edu	37	2	209153536	209153536	+	Missense_Mutation	SNP	G	G	A	rs187383957	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:209153536G>A	ENST00000264380.4	+	7	1063	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R205Q|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R216Q|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R302Q	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	302					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.R302Q(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						TCTCCTGCTCGAAATAGGTAA	0.363													G|||	5	0.000998403	0.0	0.0072	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0				p.R302Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G905A	2						.						83.0	83.0	83.0					2																	209153536		2203	4300	6503	208861781	SO:0001583	missense	200576	exon7			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.905G>A	2.37:g.209153536G>A	ENSP00000264380:p.Arg302Gln		208861781	NM_001178000	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.747155	0.96882	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.68181	1.47;-0.31;1.6	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000005	T	0.71634	0.3363	N	0.24115	0.695	0.58432	D	0.999991	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.994;0.997	D;D;D;P;D	0.75484	0.978;0.978;0.986;0.885;0.964	T	0.63449	-0.6635	10	0.12766	T	0.61	-10.4276	20.6208	0.99490	0.0:0.0:1.0:0.0	.	302;302;216;302;205	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	Q	205;302;302;216;302	ENSP00000264380:R302Q;ENSP00000384356:R302Q;ENSP00000405736:R302Q	ENSP00000264380:R302Q	R	+	2	0	PIKFYVE	208861781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.164000	0.89661	2.882000	0.98803	0.655000	0.94253	CGA		0.363	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
PIKFYVE	200576	broad.mit.edu	37	2	209179025	209179025	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:209179025A>C	ENST00000264380.4	+	14	1862	c.1704A>C	c.(1702-1704)ttA>ttC	p.L568F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	568					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.L568F(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						TAGAATCCTTATTTAATCGCC	0.373																																					p.L568F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1704C	2						.						66.0	75.0	72.0					2																	209179025		2203	4300	6503	208887270	SO:0001583	missense	200576	exon14			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.1704A>C	2.37:g.209179025A>C	ENSP00000264380:p.Leu568Phe		208887270	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747745	0.69533	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.35421	1.31;1.54	5.6	1.76	0.24704	.	0.000000	0.64402	D	0.000016	T	0.35364	0.0929	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.986	T	0.19128	-1.0315	10	0.19590	T	0.45	-10.8717	4.9937	0.14228	0.6335:0.145:0.2215:0.0	.	568;512	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	F	568;144;512	ENSP00000264380:L568F;ENSP00000405736:L512F	ENSP00000264380:L568F	L	+	3	2	PIKFYVE	208887270	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	0.581000	0.23819	0.418000	0.25898	0.528000	0.53228	TTA		0.373	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
MAP2	4133	broad.mit.edu	37	2	210558312	210558312	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:210558312T>G	ENST00000360351.4	+	7	1924	c.1418T>G	c.(1417-1419)aTt>aGt	p.I473S	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I469S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	473					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.I473S(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)	ATAGGCATAATTCAGACCTCC	0.438																																					p.I473S	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1418G	2						.						56.0	58.0	57.0					2																	210558312		2203	4299	6502	210266557	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.1418T>G	2.37:g.210558312T>G	ENSP00000353508:p.Ile473Ser		210266557	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	5.342	0.248431	0.10130	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.25579	1.79;1.79;1.79	6.16	2.29	0.28610	MAP2/Tau projection (1);	0.738078	0.12909	N	0.429081	T	0.19927	0.0479	L	0.51422	1.61	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.12837	0.004;0.008	T	0.34179	-0.9839	10	0.66056	D	0.02	-0.3192	1.3829	0.02234	0.127:0.2427:0.1476:0.4828	.	469;473	P11137-3;P11137	.;MAP2_HUMAN	S	473;555;469	ENSP00000353508:I473S;ENSP00000409969:I555S;ENSP00000392164:I469S	ENSP00000353508:I473S	I	+	2	0	MAP2	210266557	0.001000	0.12720	0.062000	0.19696	0.780000	0.44128	0.256000	0.18351	0.479000	0.27511	0.528000	0.53228	ATT		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210558484	210558484	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:210558484G>T	ENST00000360351.4	+	7	2096	c.1590G>T	c.(1588-1590)aaG>aaT	p.K530N	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K526N|MAP2_ENST00000199940.6_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	
APOB	338	broad.mit.edu	37	2	21229937	21229937	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:21229937G>A	ENST00000233242.1	-	26	9930	c.9803C>T	c.(9802-9804)tCg>tTg	p.S3268L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3268					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.S3268L(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)					GCCGAATGCCGACATCTCTAT	0.473																																					p.S3268L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9803T	2						.						80.0	72.0	75.0					2																	21229937		2203	4300	6503	21083442	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.9803C>T	2.37:g.21229937G>A	ENSP00000233242:p.Ser3268Leu		21083442	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.471930	0.01044	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.34859	1.34	4.6	-5.1	0.02911	.	1.803930	0.03240	N	0.180300	T	0.11580	0.0282	N	0.01493	-0.835	0.58432	D	0.999999	B	0.12013	0.005	B	0.12837	0.008	T	0.52147	-0.8614	10	0.02654	T	1	.	9.016	0.36170	0.1341:0.2821:0.5838:0.0	.	3268	P04114	APOB_HUMAN	L	3268	ENSP00000233242:S3268L	ENSP00000233242:S3268L	S	-	2	0	APOB	21083442	0.687000	0.27671	0.001000	0.08648	0.507000	0.33981	1.058000	0.30504	-0.889000	0.03950	-0.471000	0.05019	TCG		0.473	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
MAP2	4133	broad.mit.edu	37	2	210574836	210574836	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:210574836T>C	ENST00000360351.4	+	12	5437	c.4931T>C	c.(4930-4932)gTc>gCc	p.V1644A	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.V288A|MAP2_ENST00000447185.1_Missense_Mutation_p.V1640A|MAP2_ENST00000199940.6_Missense_Mutation_p.V345A|MAP2_ENST00000361559.4_Missense_Mutation_p.V288A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1644					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.V1644A(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)	GAGAAGAAGGTCGCCATCATA	0.537																																					p.V288A	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T863C	2						.						114.0	100.0	105.0					2																	210574836		2203	4300	6503	210283081	SO:0001583	missense	4133	exon9				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4931T>C	2.37:g.210574836T>C	ENSP00000353508:p.Val1644Ala		210283081	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798636	0.70567	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.25912	1.77;2.94;2.03;2.03;2.94	5.76	4.61	0.57282	.	0.119010	0.37437	N	0.002081	T	0.36026	0.0952	L	0.32530	0.975	0.80722	D	1	D;B;D;D;B	0.76494	0.999;0.037;0.969;0.999;0.201	D;B;D;D;B	0.79784	0.993;0.024;0.93;0.991;0.161	T	0.04065	-1.0980	10	0.23891	T	0.37	-14.4679	11.5968	0.50979	0.0:0.0695:0.0:0.9305	.	1640;288;289;1644;345	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	A	345;1644;288;288;1640	ENSP00000199940:V345A;ENSP00000353508:V1644A;ENSP00000355290:V288A;ENSP00000376032:V288A;ENSP00000392164:V1640A	ENSP00000199940:V345A	V	+	2	0	MAP2	210283081	1.000000	0.71417	0.580000	0.28601	0.644000	0.38419	7.997000	0.88414	1.019000	0.39547	-0.326000	0.08463	GTC		0.537	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
CPS1	1373	broad.mit.edu	37	2	211469886	211469886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:211469886G>T	ENST00000233072.5	+	17	2093	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	CPS1_ENST00000430249.2_Nonsense_Mutation_p.E639*|CPS1_ENST00000451903.2_Nonsense_Mutation_p.E182*	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	633	ATP-grasp 1.				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.E633*(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)	GAAAGAAATAGAATATGAAGT	0.393																																					p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	2						.						150.0	137.0	142.0					2																	211469886		2203	4300	6503	211178131	SO:0001587	stop_gained	1373	exon7			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.1897G>T	2.37:g.211469886G>T	ENSP00000233072:p.Glu633*		211178131	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Nonsense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	40	8.222242	0.98712	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.6238	19.8155	0.96566	0.0:0.0:1.0:0.0	.	.	.	.	X	639;641;633;182	.	ENSP00000233072:E633X	E	+	1	0	CPS1	211178131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.682000	0.91365	0.650000	0.86243	GAA		0.393	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
CPS1	1373	broad.mit.edu	37	2	211473151	211473151	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:211473151C>T	ENST00000233072.5	+	19	2455	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	CPS1_ENST00000430249.2_Silent_p.V759V|CPS1_ENST00000451903.2_Silent_p.V302V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	753					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.V753V(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)	TTAAGAACGTCGTATCCGGGA	0.423																																					p.V302V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	2						.						122.0	118.0	119.0					2																	211473151		2203	4300	6503	211181396	SO:0001819	synonymous_variant	1373	exon9			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.2259C>T	2.37:g.211473151C>T			211181396	NM_001122634	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	CCDS2393.1																																																																																				0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
SPAG16	79582	broad.mit.edu	37	2	214204890	214204890	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:214204890A>C	ENST00000331683.5	+	6	635	c.540A>C	c.(538-540)aaA>aaC	p.K180N	SPAG16_ENST00000413312.1_Missense_Mutation_p.K149N|SPAG16_ENST00000272898.7_Missense_Mutation_p.K180N|SPAG16_ENST00000447990.1_Missense_Mutation_p.K180N|SPAG16_ENST00000374309.3_Missense_Mutation_p.K86N|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	180					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.K180N(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)		TTTTCAGCAAAGCTAGAGAAG	0.294																																					p.K180N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A540C	2						.						26.0	28.0	28.0					2																	214204890		2201	4293	6494	213913135	SO:0001583	missense	79582	exon6			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.540A>C	2.37:g.214204890A>C	ENSP00000332592:p.Lys180Asn		213913135	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349607	0.61183	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.59772	0.28;0.24	5.96	-1.4	0.08968	.	0.175781	0.49916	D	0.000122	T	0.63355	0.2504	L	0.48174	1.505	0.34925	D	0.748781	D;D;D;B;D	0.76494	0.999;0.999;0.999;0.011;0.999	D;D;D;B;D	0.80764	0.994;0.974;0.918;0.02;0.994	T	0.67413	-0.5677	10	0.46703	T	0.11	.	10.4628	0.44590	0.7252:0.0:0.2748:0.0	.	86;31;149;120;180	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	N	180;149;180;180;86	ENSP00000332592:K180N;ENSP00000363428:K86N	ENSP00000272898:K180N	K	+	3	2	SPAG16	213913135	0.998000	0.40836	0.995000	0.50966	0.850000	0.48378	0.256000	0.18351	-0.142000	0.11354	-0.408000	0.06270	AAA		0.294	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
BARD1	580	broad.mit.edu	37	2	215646178	215646178	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:215646178C>A	ENST00000260947.4	-	4	554	c.420G>T	c.(418-420)aaG>aaT	p.K140N	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	140					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K140N(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAATTGAATTCTTCTTGTTTC	0.318									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.K140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G420T	2						.						83.0	86.0	85.0					2																	215646178		2203	4299	6502	215354423	SO:0001583	missense	580	exon4	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.420G>T	2.37:g.215646178C>A	ENSP00000260947:p.Lys140Asn		215354423	NM_000465	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842534	0.71488	.	.	ENSG00000138376	ENST00000260947	T	0.80123	-1.34	6.05	3.31	0.37934	.	0.099817	0.64402	D	0.000002	D	0.87002	0.6069	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85560	0.1227	10	0.66056	D	0.02	-21.7587	9.2399	0.37489	0.0:0.733:0.0:0.267	.	140	Q99728	BARD1_HUMAN	N	140	ENSP00000260947:K140N	ENSP00000260947:K140N	K	-	3	2	BARD1	215354423	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.883000	0.39658	0.450000	0.26774	0.650000	0.86243	AAG		0.318	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
ABCA12	26154	broad.mit.edu	37	2	215876210	215876210	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:215876210A>C	ENST00000272895.7	-	17	2504	c.2285T>G	c.(2284-2286)tTa>tGa	p.L762*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.L444*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	762					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.L762*(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)		CTCTTTAGTTAATTTATAAGT	0.348																																					p.L762X	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2285G	2						.						63.0	70.0	68.0					2																	215876210		2203	4300	6503	215584455	SO:0001587	stop_gained	26154	exon17			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.2285T>G	2.37:g.215876210A>C	ENSP00000272895:p.Leu762*		215584455	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	37	6.282761	0.97440	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.16	5.16	0.70880	.	0.283615	0.25022	N	0.033749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	8.7143	0.34401	0.8308:0.0:0.0:0.1692	.	.	.	.	X	762;444	.	ENSP00000272895:L762X	L	-	2	0	ABCA12	215584455	0.972000	0.33761	1.000000	0.80357	0.559000	0.35586	1.505000	0.35736	2.073000	0.62155	0.533000	0.62120	TTA		0.348	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215890473	215890473	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:215890473C>T	ENST00000272895.7	-	11	1430	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R86Q|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	404					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.R404Q(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)		TTTTTTAAATCGTATTGTGGA	0.343																																					p.R404Q	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211A	2						.						75.0	78.0	77.0					2																	215890473		2203	4300	6503	215598718	SO:0001583	missense	26154	exon11			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1211G>A	2.37:g.215890473C>T	ENSP00000272895:p.Arg404Gln		215598718	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534966	0.27475	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.58060	0.36;0.36	5.96	-3.84	0.04256	.	0.931591	0.09010	N	0.861665	T	0.24851	0.0603	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.27739	-1.0065	10	0.11794	T	0.64	.	7.9349	0.29925	0.0:0.2817:0.1183:0.6	.	404;86	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	404;86	ENSP00000272895:R404Q;ENSP00000374312:R86Q	ENSP00000272895:R404Q	R	-	2	0	ABCA12	215598718	0.002000	0.14202	0.045000	0.18777	0.748000	0.42578	-1.304000	0.02741	-0.784000	0.04528	0.655000	0.94253	CGA		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
FN1	2335	broad.mit.edu	37	2	216259432	216259432	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:216259432A>G	ENST00000359671.1	-	24	3880	c.3615T>C	c.(3613-3615)ggT>ggC	p.G1205G	FN1_ENST00000346544.3_Silent_p.G1205G|FN1_ENST00000345488.5_Silent_p.G1205G|FN1_ENST00000421182.1_Silent_p.G1205G|FN1_ENST00000357009.2_Silent_p.G1205G|FN1_ENST00000336916.4_Silent_p.G1205G|FN1_ENST00000443816.1_Silent_p.G1205G|FN1_ENST00000356005.4_Silent_p.G1205G|FN1_ENST00000357867.4_Silent_p.G1205G|FN1_ENST00000354785.4_Silent_p.G1205G|FN1_ENST00000446046.1_Silent_p.G1205G|FN1_ENST00000432072.2_Silent_p.G1205G|FN1_ENST00000323926.6_Silent_p.G1205G			P02751	FINC_HUMAN	fibronectin 1	1205	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G1205G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TAATTCTATAACCAGTAATGT	0.443																																					p.G1205G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3615C	2						.						81.0	89.0	87.0					2																	216259432		2203	4300	6503	215967677	SO:0001819	synonymous_variant	2335	exon24				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3615T>C	2.37:g.216259432A>G			215967677	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37																																																																																					0.443	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
XRCC5	7520	broad.mit.edu	37	2	216992289	216992289	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:216992289A>C	ENST00000392133.3	+	10	1290	c.829A>C	c.(829-831)Aca>Cca	p.T277P	XRCC5_ENST00000392132.2_Missense_Mutation_p.T277P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	277	Ku.				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.T277P(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)		AAAGACTTGGACAGTTGTGGA	0.308								Non-homologous end-joining																													p.T277P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A829C	2						.						91.0	97.0	95.0					2																	216992289		2203	4300	6503	216700534	SO:0001583	missense	7520	exon8			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.829A>C	2.37:g.216992289A>C	ENSP00000375978:p.Thr277Pro		216700534	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760362	0.49468	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31510	1.49;1.49	6.17	1.11	0.20524	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (1);	0.656463	0.16245	N	0.222959	T	0.29355	0.0731	M	0.72118	2.19	0.41367	D	0.987462	B	0.32283	0.362	B	0.35073	0.195	T	0.03795	-1.1003	10	0.29301	T	0.29	.	5.6055	0.17377	0.5247:0.0:0.3464:0.129	.	277	P13010	XRCC5_HUMAN	P	277	ENSP00000375978:T277P;ENSP00000375977:T277P	ENSP00000375977:T277P	T	+	1	0	XRCC5	216700534	0.746000	0.28272	0.986000	0.45419	0.896000	0.52359	1.603000	0.36794	-0.037000	0.13646	-0.250000	0.11733	ACA		0.308	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
SPEG	10290	broad.mit.edu	37	2	220329280	220329280	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:220329280C>T	ENST00000312358.7	+	9	2963	c.2831C>T	c.(2830-2832)gCg>gTg	p.A944V	SPEG_ENST00000396688.1_Missense_Mutation_p.A95V|SPEG_ENST00000396698.1_Missense_Mutation_p.A840V|SPEG_ENST00000396686.1_Missense_Mutation_p.A95V|SPEG_ENST00000396695.2_Missense_Mutation_p.A152V|SPEG_ENST00000396689.2_Missense_Mutation_p.A95V|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	944	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.A944V(2)		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)		ACTTGCAAAGCGGTCAATGAG	0.632																																					p.A95V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C284T	2						.						90.0	100.0	97.0					2																	220329280		2167	4277	6444	220037524	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.2831C>T	2.37:g.220329280C>T	ENSP00000311684:p.Ala944Val		220037524	NM_001173476	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587831	0.66105	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000815	D	0.83954	0.5366	M	0.80616	2.505	0.39815	D	0.972754	D;D;D	0.69078	0.997;0.988;0.997	P;P;D	0.68039	0.766;0.654;0.955	D	0.86029	0.1512	10	0.52906	T	0.07	.	16.7035	0.85365	0.0:1.0:0.0:0.0	.	944;152;840	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	V	944;944;840;152;95;95;95	ENSP00000311684:A944V;ENSP00000379926:A840V;ENSP00000379923:A152V;ENSP00000379919:A95V;ENSP00000379917:A95V;ENSP00000379920:A95V	ENSP00000265327:A944V	A	+	2	0	SPEG	220037524	1.000000	0.71417	0.799000	0.32177	0.005000	0.04900	5.326000	0.65875	2.484000	0.83849	0.561000	0.74099	GCG		0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
SCG2	7857	broad.mit.edu	37	2	224463935	224463935	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:224463935G>A	ENST00000305409.2	-	2	298	c.66C>T	c.(64-66)atC>atT	p.I22I		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0			L -> R (in MEN1; no effect on histone methylation; almost no effect on JUND- binding; no repression of JUND transactivation). {ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:9103196, ECO:0000269|PubMed:9989505}.		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.I22I(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)		CAGCCCCAGAGATGAGGAAAA	0.423																																					p.I22I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C66T	2						.						64.0	69.0	68.0					2																	224463935		2203	4299	6502	224172179	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.66C>T	2.37:g.224463935G>A			224172179	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																				0.423	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
NYAP2	57624	broad.mit.edu	37	2	226273726	226273726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:226273726C>T	ENST00000272907.6	+	2	543	c.130C>T	c.(130-132)Cga>Tga	p.R44*	NYAP2_ENST00000409269.2_Nonsense_Mutation_p.R44*	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	44					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R44*(1)|p.R44R(1)									AGATATTGCTCGAGAGAATGA	0.408																																					p.R44X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C130T	2						.						104.0	94.0	97.0					2																	226273726		1881	4110	5991	225981970	SO:0001587	stop_gained	57624	exon2			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.130C>T	2.37:g.226273726C>T	ENSP00000272907:p.Arg44*		225981970	NM_020864	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	37	6.010483	0.97200	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	.	.	.	5.92	4.08	0.47627	.	0.000000	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9567	13.9926	0.64376	0.3984:0.6015:0.0:0.0	.	.	.	.	X	44	.	ENSP00000272907:R44X	R	+	1	2	KIAA1486	225981970	1.000000	0.71417	0.986000	0.45419	0.770000	0.43624	2.515000	0.45512	0.798000	0.33994	-0.321000	0.08615	CGA		0.408	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
DAW1	164781	broad.mit.edu	37	2	228783526	228783526	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:228783526G>T	ENST00000309931.2	+	11	1087	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	DAW1_ENST00000545118.1_Missense_Mutation_p.R320I|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	335						cilium (GO:0005929)		p.R335K(1)|p.R335I(1)									GCTGCCACAAGAAAATGCATT	0.353																																					p.R335I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1004T	2						.						75.0	74.0	74.0					2																	228783526		2203	4300	6503	228491770	SO:0001583	missense	164781	exon11				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1004G>T	2.37:g.228783526G>T	ENSP00000311899:p.Arg335Ile		228491770	NM_178821	Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397789	0.25205	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	T;T	0.60920	0.15;0.15	5.32	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.492489	0.23541	N	0.047071	T	0.51160	0.1658	L	0.57536	1.79	0.48452	D	0.99965	B	0.12630	0.006	B	0.19666	0.026	T	0.53408	-0.8443	10	0.56958	D	0.05	.	8.2805	0.31898	0.2449:0.0:0.7551:0.0	.	335	Q8N136	WDR69_HUMAN	I	335;320	ENSP00000311899:R335I;ENSP00000437887:R320I	ENSP00000311899:R335I	R	+	2	0	WDR69	228491770	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	1.852000	0.39348	1.372000	0.46190	0.650000	0.86243	AGA		0.353	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821	
TRIP12	9320	broad.mit.edu	37	2	230693939	230693939	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:230693939G>A	ENST00000283943.5	-	7	1454	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.L474F|TRIP12_ENST00000389045.3_Missense_Mutation_p.L129F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	426					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.L426F(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)		CTATGGAAAAGCTGTGACATC	0.418																																					p.L426F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1276T	2						.						76.0	73.0	74.0					2																	230693939		2203	4300	6503	230402183	SO:0001583	missense	9320	exon7			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.1276C>T	2.37:g.230693939G>A	ENSP00000283943:p.Leu426Phe		230402183	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832619	0.71258	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.54866	0.58;1.04;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	L	0.45137	1.4	0.80722	D	1	D;D;D;D	0.69078	0.995;0.995;0.995;0.997	D;D;D;P	0.70487	0.969;0.969;0.969;0.878	T	0.66901	-0.5806	10	0.52906	T	0.07	.	19.0849	0.93200	0.0:0.0:1.0:0.0	.	432;129;474;426	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	F	426;129;474	ENSP00000283943:L426F;ENSP00000373697:L129F;ENSP00000373696:L474F	ENSP00000283943:L426F	L	-	1	0	TRIP12	230402183	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.233000	0.95337	2.520000	0.84964	0.557000	0.71058	CTT		0.418	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
GIGYF2	26058	broad.mit.edu	37	2	233704626	233704626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:233704626C>A	ENST00000409547.1	+	25	3145	c.2834C>A	c.(2833-2835)tCg>tAg	p.S945*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S939*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S966*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.S967*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S967*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S945*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S776*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	945	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.S945*(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)		GCCACGCTGTCGTTGGCTGAA	0.458																																					p.S939X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2816A	2						.						80.0	75.0	77.0					2																	233704626		2203	4300	6503	233412870	SO:0001587	stop_gained	26058	exon22			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.2834C>A	2.37:g.233704626C>A	ENSP00000386537:p.Ser945*		233412870	NM_001103148	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	43	10.407416	0.99399	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451;ENST00000452341	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5485	19.1613	0.93533	0.0:1.0:0.0:0.0	.	.	.	.	X	967;945;967;945;939;966;776	.	ENSP00000362664:S945X	S	+	2	0	GIGYF2	233412870	1.000000	0.71417	0.972000	0.41901	0.682000	0.39822	7.277000	0.78572	2.517000	0.84864	0.650000	0.86243	TCG		0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146	
DGKD	8527	broad.mit.edu	37	2	234343074	234343074	+	Nonsense_Mutation	SNP	G	G	T	rs199985859		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:234343074G>T	ENST00000264057.2	+	4	409	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.E89*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	133	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E133*(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		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;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TAACAGAAAAGAAATGGAAGA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19971	0.0		0.001	False		,,,				2504	0.0				p.E133X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G397T	2						.						161.0	161.0	161.0					2																	234343074		2203	4300	6503	234007813	SO:0001587	stop_gained	8527	exon4			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.397G>T	2.37:g.234343074G>T	ENSP00000264057:p.Glu133*		234007813	NM_152879	Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	CCDS2504.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.491856	0.96339	.	.	ENSG00000077044	ENST00000264057;ENST00000427930;ENST00000447484;ENST00000409813	.	.	.	4.89	4.89	0.63831	.	0.165514	0.39274	N	0.001403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.6329	0.91366	0.0:0.0:1.0:0.0	.	.	.	.	X	133;69;103;89	.	ENSP00000264057:E133X	E	+	1	0	DGKD	234007813	1.000000	0.71417	0.868000	0.34077	0.997000	0.91878	9.108000	0.94275	2.717000	0.92951	0.563000	0.77884	GAA		0.418	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
UGT1A1	54658	broad.mit.edu	37	2	234526697	234526697	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:234526697G>T	ENST00000373450.4	+	1	407	c.344G>T	c.(343-345)gGt>gTt	p.G115V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	121					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	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)|steroid binding (GO:0005496)	p.G115V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TCATCCAATGGTTTTTTTAAC	0.373																																					p.G115V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344T	2						.						116.0	123.0	121.0					2																	234526697		2203	4300	6503	234191436	SO:0001583	missense	54576	exon1			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.344G>T	2.37:g.234526697G>T	ENSP00000362549:p.Gly115Val		234191436	NM_019076	A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	G	6.663	0.490776	0.12702	.	.	ENSG00000242366	ENST00000373450	T	0.59224	0.28	3.83	-6.32	0.01995	.	.	.	.	.	T	0.24236	0.0587	N	0.01751	-0.74	0.09310	N	0.999999	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.20706	-1.0267	9	0.33940	T	0.23	.	7.2633	0.26216	0.1935:0.2819:0.5246:0.0	.	115;115	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	V	115	ENSP00000362549:G115V	ENSP00000362549:G115V	G	+	2	0	UGT1A8	234191436	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.077000	0.00615	-1.186000	0.02713	0.400000	0.26472	GGT		0.373	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1		
COL6A3	1293	broad.mit.edu	37	2	238296762	238296762	+	Missense_Mutation	SNP	C	C	T	rs141609058		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:238296762C>T	ENST00000295550.4	-	4	1227	c.775G>A	c.(775-777)Gca>Aca	p.A259T	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.A53T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A259T|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.A53T|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.A53T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	259	Nonhelical region.|VWFA 2. {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.A259T(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)		AGAATGACTGCGAAATTGACA	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20312	0.0		0.0	False		,,,				2504	0.0				p.A53T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	2						.	C	,,THR/ALA,THR/ALA,THR/ALA	18,4388	25.3+/-52.1	0,18,2185	59.0	60.0	59.0		,,157,157,775	1.0	1.0	2	dbSNP_134	59	0,8600		0,0,4300	yes	intron,intron,missense,missense,missense	COL6A3	NM_057164.4,NM_057166.4,NM_057167.3,NM_057165.4,NM_004369.3	,,58,58,58	0,18,6485	TT,TC,CC		0.0,0.4085,0.1384	,,benign,benign,benign	,,53/2972,53/1238,259/3178	238296762	18,12988	2203	4300	6503	237961501	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.775G>A	2.37:g.238296762C>T	ENSP00000295550:p.Ala259Thr		237961501	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665547	0.29604	0.004085	0.0	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.43	0.971	0.19698	von Willebrand factor, type A (3);	1.007410	0.07997	N	0.988076	T	0.67031	0.2850	L	0.38175	1.15	0.09310	N	0.999999	B;B;P;B	0.35894	0.004;0.033;0.526;0.009	B;B;B;B	0.28849	0.003;0.013;0.095;0.003	T	0.52510	-0.8566	10	0.14252	T	0.57	.	1.9296	0.03324	0.2056:0.3994:0.2339:0.1611	.	259;53;53;259	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	259;53;53;259;53;259	ENSP00000295550:A259T;ENSP00000315873:A53T;ENSP00000386844:A53T;ENSP00000295546:A259T;ENSP00000375861:A53T;ENSP00000389539:A259T	ENSP00000295550:A259T	A	-	1	0	COL6A3	237961501	0.935000	0.31712	0.999000	0.59377	0.998000	0.95712	0.487000	0.22356	0.164000	0.19529	0.650000	0.86243	GCA		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
KIDINS220	57498	broad.mit.edu	37	2	8925953	8925953	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:8925953T>C	ENST00000256707.3	-	17	2328	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	KIDINS220_ENST00000319688.5_Missense_Mutation_p.D717G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D716G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D716G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D674G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	716	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.D716G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGGAGCGAGTCCAGCACTTG	0.448																																					p.D716G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2147G	2						.						127.0	121.0	123.0					2																	8925953		2007	4191	6198	8843404	SO:0001583	missense	57498	exon17			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2147A>G	2.37:g.8925953T>C	ENSP00000256707:p.Asp716Gly		8843404	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	13.53	2.264246	0.39995	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.66815	0.9;-0.23;-0.2;-0.13;-0.2;-0.16;-0.14	5.55	5.55	0.83447	KAP P-loop (1);	0.096049	0.64402	D	0.000001	T	0.58779	0.2146	L	0.39397	1.21	0.58432	D	0.999993	P;B;B;B	0.48162	0.906;0.005;0.153;0.108	B;B;B;B	0.42738	0.396;0.006;0.236;0.347	T	0.56829	-0.7914	10	0.22109	T	0.4	.	14.2614	0.66088	0.0:0.0:0.0:1.0	.	717;717;674;716	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	G	463;400;716;716;674;716;717;717	ENSP00000420364:D463G;ENSP00000256707:D716G;ENSP00000411849:D716G;ENSP00000414923:D674G;ENSP00000418974:D716G;ENSP00000419964:D717G;ENSP00000319947:D717G	ENSP00000256707:D716G	D	-	2	0	KIDINS220	8843404	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.851000	0.62896	2.097000	0.63578	0.533000	0.62120	GAC		0.448	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
KIDINS220	57498	broad.mit.edu	37	2	8958876	8958876	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:8958876T>C	ENST00000256707.3	-	3	337	c.156A>G	c.(154-156)gaA>gaG	p.E52E	KIDINS220_ENST00000319688.5_Silent_p.E52E|KIDINS220_ENST00000473731.1_Silent_p.E52E|KIDINS220_ENST00000427284.1_Silent_p.E52E|KIDINS220_ENST00000418530.1_Silent_p.E10E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	52					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.E52E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTTCACTATTTCCAGATTGC	0.338																																					p.E52E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A156G	2						.						125.0	121.0	122.0					2																	8958876		1829	4089	5918	8876327	SO:0001819	synonymous_variant	57498	exon3			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.156A>G	2.37:g.8958876T>C			8876327	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.338	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
MBOAT2	129642	broad.mit.edu	37	2	9098719	9098719	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:9098719C>T	ENST00000305997.3	-	2	326	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	43					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R43Q(2)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGATAAGTTCGAAACCAAAT	0.358																																					p.R43Q	Ovarian(194;1699 3813 22401)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G128A	2						.						70.0	71.0	71.0					2																	9098719		2203	4300	6503	9016170	SO:0001583	missense	129642	exon2			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.128G>A	2.37:g.9098719C>T	ENSP00000302177:p.Arg43Gln		9016170	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041664	0.93685	.	.	ENSG00000143797	ENST00000305997	T	0.12465	2.68	6.03	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55774	-0.8088	10	0.72032	D	0.01	-4.7565	17.4628	0.87624	0.0:0.8759:0.1241:0.0	.	43;43	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	Q	43	ENSP00000302177:R43Q	ENSP00000302177:R43Q	R	-	2	0	MBOAT2	9016170	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.409000	0.80053	1.547000	0.49401	0.655000	0.94253	CGA		0.358	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
ASXL2	55252	broad.mit.edu	37	2	25978930	25978930	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:25978930G>T	ENST00000435504.4	-	10	1286	c.993C>A	c.(991-993)ttC>ttA	p.F331L	ASXL2_ENST00000272341.4_Missense_Mutation_p.F71L|ASXL2_ENST00000404843.1_Missense_Mutation_p.F71L|ASXL2_ENST00000336112.4_Missense_Mutation_p.F303L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	331					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.F71L(1)|p.F331L(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)					CTGAAGTGAAGAATTCATTGT	0.453																																					p.F331L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C993A	2						.						130.0	127.0	128.0					2																	25978930		1886	4114	6000	25832434	SO:0001583	missense	55252	exon9					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.993C>A	2.37:g.25978930G>T	ENSP00000391447:p.Phe331Leu		25832434	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	22.7	4.326747	0.81690	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.52754	0.65;0.65;1.08;1.08	6.08	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.71915	-0.4448	10	0.87932	D	0	-15.3561	15.0129	0.71562	0.0804:0.0:0.9196:0.0	.	71;331	Q76L83-2;Q76L83	.;ASXL2_HUMAN	L	331;303;71;71	ENSP00000391447:F331L;ENSP00000337250:F303L;ENSP00000383920:F71L;ENSP00000272341:F71L	ENSP00000272341:F71L	F	-	3	2	ASXL2	25832434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.678000	0.61641	2.894000	0.99253	0.655000	0.94253	TTC		0.453	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
KIF3C	3797	broad.mit.edu	37	2	26204606	26204606	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:26204606C>A	ENST00000264712.3	-	1	760	c.181G>T	c.(181-183)Gac>Tac	p.D61Y	KIF3C_ENST00000405914.1_Missense_Mutation_p.D61Y	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	61	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)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D61Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACACGGCGTCAAAGGTGAAG	0.622																																					p.D61Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181T	2						.						82.0	87.0	85.0					2																	26204606		2203	4300	6503	26058110	SO:0001583	missense	3797	exon1				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.181G>T	2.37:g.26204606C>A	ENSP00000264712:p.Asp61Tyr		26058110	NM_002254	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014176	0.75161	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	D;D	0.83163	-1.69;-1.69	5.45	5.45	0.79879	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	H	0.99890	4.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98076	1.0401	10	0.87932	D	0	.	16.7781	0.85557	0.0:1.0:0.0:0.0	.	61;61	B7ZM25;O14782	.;KIF3C_HUMAN	Y	61	ENSP00000264712:D61Y;ENSP00000385030:D61Y	ENSP00000264712:D61Y	D	-	1	0	KIF3C	26058110	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	7.757000	0.85209	2.557000	0.86248	0.563000	0.77884	GAC		0.622	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1		
HADHA	3030	broad.mit.edu	37	2	26417502	26417502	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:26417502T>C	ENST00000380649.3	-	16	1755	c.1626A>G	c.(1624-1626)ggA>ggG	p.G542G		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	542					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.G542G(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGCCAGGTCCATCCTGCC	0.517																																					p.G542G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1626G	2						.						77.0	65.0	69.0					2																	26417502		2203	4300	6503	26271006	SO:0001819	synonymous_variant	3030	exon16			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.1626A>G	2.37:g.26417502T>C			26271006	NM_000182	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000380649.3	37	CCDS1721.1																																																																																				0.517	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
HADHB	3032	broad.mit.edu	37	2	26486264	26486264	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:26486264G>A	ENST00000317799.5	+	4	230	c.126G>A	c.(124-126)acG>acA	p.T42T	HADHB_ENST00000545822.1_Silent_p.T20T|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Silent_p.T42T|HADHB_ENST00000537713.1_Silent_p.T42T	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	42					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)	p.T42T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCAAAACGAAGAAGACGT	0.328																																					p.T42T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	2						.						138.0	126.0	130.0					2																	26486264		2203	4300	6503	26339768	SO:0001819	synonymous_variant	3032	exon4				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"""mitochondrial trifunctional protein, beta subunit"""	143450	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"""			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.126G>A	2.37:g.26486264G>A			26339768	NM_000183	B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	ENST00000317799.5	37	CCDS1722.1																																																																																				0.328	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214050.2	NM_000183	
DRC1	92749	broad.mit.edu	37	2	26676379	26676379	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:26676379G>T	ENST00000288710.2	+	14	1955	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	627					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.K627N(1)									ATGTCCTCAAGATTCTGGAGG	0.602																																					p.K627N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1881T	2						.						59.0	61.0	60.0					2																	26676379		2203	4300	6503	26529883	SO:0001583	missense	92749	exon14			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1881G>T	2.37:g.26676379G>T	ENSP00000288710:p.Lys627Asn		26529883	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039761	0.75732	.	.	ENSG00000157856	ENST00000288710	T	0.17054	2.3	5.03	5.03	0.67393	.	0.366835	0.31721	N	0.007178	T	0.30727	0.0774	M	0.63428	1.95	0.33207	D	0.552889	P	0.49862	0.929	P	0.54856	0.762	T	0.41716	-0.9493	10	0.56958	D	0.05	-46.4855	11.7612	0.51903	0.0862:0.0:0.9138:0.0	.	627	Q96MC2	CC164_HUMAN	N	627	ENSP00000288710:K627N	ENSP00000288710:K627N	K	+	3	2	CCDC164	26529883	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	2.819000	0.48049	2.506000	0.84524	0.609000	0.83330	AAG		0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
OTOF	9381	broad.mit.edu	37	2	26684962	26684962	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:26684962G>T	ENST00000272371.2	-	42	5406	c.5280C>A	c.(5278-5280)atC>atA	p.I1760I	OTOF_ENST00000338581.6_Silent_p.I993I|OTOF_ENST00000403946.3_Silent_p.I1760I|OTOF_ENST00000339598.3_Silent_p.I993I|OTOF_ENST00000402415.3_Silent_p.I1070I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1760					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.I1760I(1)|p.I993I(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCACGAAGATGTCACTGG	0.627																																					p.I993I	GBM(102;732 1451 20652 24062 31372)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2979A	2						.						175.0	158.0	164.0					2																	26684962		2203	4300	6503	26538466	SO:0001819	synonymous_variant	9381	exon25			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5280C>A	2.37:g.26684962G>T			26538466	NM_194323	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
AGBL5	60509	broad.mit.edu	37	2	27276386	27276386	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:27276386G>A	ENST00000360131.4	+	3	491	c.332G>A	c.(331-333)cGc>cAc	p.R111H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R111H|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	111					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.R111H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTTTGTGCGCACACTGCCC	0.537																																					p.R111H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	2						.						81.0	79.0	80.0					2																	27276386		2203	4300	6503	27129890	SO:0001583	missense	60509	exon3			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.332G>A	2.37:g.27276386G>A	ENSP00000353249:p.Arg111His		27129890	NM_001035507	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492901	0.84962	.	.	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.15834	2.41;2.39	5.67	5.67	0.87782	.	0.044130	0.85682	D	0.000000	T	0.34890	0.0913	M	0.62016	1.91	0.52099	D	0.999946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.98;0.984;0.984	T	0.02596	-1.1136	10	0.18276	T	0.48	-4.9759	12.6154	0.56573	0.0795:0.0:0.9205:0.0	.	111;111;111	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	H	111	ENSP00000323681:R111H;ENSP00000353249:R111H	ENSP00000323681:R111H	R	+	2	0	AGBL5	27129890	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.070000	0.64376	2.666000	0.90696	0.561000	0.74099	CGC		0.537	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
PRR30	339779	broad.mit.edu	37	2	27360551	27360552	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:27360551_27360552AC>CA	ENST00000335524.3	-	3	1171_1172	c.646_647GT>TG	c.(646-648)GTg>TGg	p.V216W		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		216								p.V216>?(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTGGACCACCAGGGCCTGG	0.668																																					.												.	.	1	Complex(1)	large_intestine(1)	c.646_647TG	2						.																																			27214056	SO:0001583	missense	339779	exon3																														ENST00000335524.3:c.646_647delinsCA	2.37:g.27360551_27360552delinsCA	ENSP00000335017:p.Val216Trp		27214055	NM_178553	Q86UE2	Missense_Mutation	DNP	ENST00000335524.3	37	CCDS1739.1																																																																																				0.668	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
PRR30	339779	broad.mit.edu	37	2	27360721	27360721	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:27360721G>A	ENST00000335524.3	-	3	1002	c.477C>T	c.(475-477)tcC>tcT	p.S159S		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		159	Pro-rich.							p.S159S(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGCCTGGGGAAGTGAGTG	0.617																																					p.S159S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C477T	2						.						52.0	53.0	52.0					2																	27360721		2203	4300	6503	27214225	SO:0001819	synonymous_variant	339779	exon3																														ENST00000335524.3:c.477C>T	2.37:g.27360721G>A			27214225	NM_178553	Q86UE2	Silent	SNP	ENST00000335524.3	37	CCDS1739.1																																																																																				0.617	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
CLIP4	79745	broad.mit.edu	37	2	29383296	29383296	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:29383296C>A	ENST00000320081.5	+	12	1752	c.1497C>A	c.(1495-1497)ggC>ggA	p.G499G	CLIP4_ENST00000401617.2_Silent_p.G392G|CLIP4_ENST00000404424.1_Silent_p.G499G|CLIP4_ENST00000401605.1_Silent_p.G499G	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	499								p.G499G(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGAGACTGGGCACCATTAGGT	0.428																																					p.G499G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1497A	2						.						123.0	115.0	117.0					2																	29383296		2203	4300	6503	29236800	SO:0001819	synonymous_variant	79745	exon12			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.1497C>A	2.37:g.29383296C>A			29236800	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																				0.428	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
MEMO1	51072	broad.mit.edu	37	2	32117097	32117097	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32117097T>G	ENST00000295065.5	-	6	853	c.544A>C	c.(544-546)Aat>Cat	p.N182H	MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.N182H|MEMO1_ENST00000379383.3_Missense_Mutation_p.N185H|MEMO1_ENST00000426310.2_Missense_Mutation_p.N159H	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	182					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.N182H(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACAAAGAGATTACTAGGATCC	0.368																																					p.N182H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A544C	2						.						113.0	121.0	118.0					2																	32117097		2203	4300	6503	31970601	SO:0001583	missense	51072	exon6			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.544A>C	2.37:g.32117097T>G	ENSP00000295065:p.Asn182His		31970601	NM_015955	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161636	0.78226	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81592	0.4855	M	0.92367	3.3	0.80722	D	1	B;P	0.47545	0.285;0.897	B;P	0.51170	0.404;0.661	D	0.86353	0.1712	9	0.87932	D	0	-17.738	15.6821	0.77376	0.0:0.0:0.0:1.0	.	159;182	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	H	182;185;182;159	.	ENSP00000295065:N182H	N	-	1	0	MEMO1	31970601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.905000	0.87416	2.179000	0.69175	0.482000	0.46254	AAT		0.368	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	
NLRC4	58484	broad.mit.edu	37	2	32449564	32449564	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32449564G>A	ENST00000404025.2	-	10	3541	c.3053C>T	c.(3052-3054)gCt>gTt	p.A1018V	NLRC4_ENST00000402280.1_Missense_Mutation_p.A1018V|NLRC4_ENST00000342905.6_Missense_Mutation_p.A353V|NLRC4_ENST00000360906.5_Missense_Mutation_p.A1018V			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	1018					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.A1018V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGTTTAAAAGCACCTGTAAT	0.363																																					p.A1018V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3053T	2						.						93.0	92.0	92.0					2																	32449564		2203	4300	6503	32303068	SO:0001583	missense	58484	exon9			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.3053C>T	2.37:g.32449564G>A	ENSP00000385090:p.Ala1018Val		32303068	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844491	0.32606	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.56103	0.48;0.48;1.34;0.48	4.57	-2.49	0.06403	.	0.442525	0.16785	N	0.199634	T	0.29620	0.0739	N	0.24115	0.695	0.27400	N	0.954885	B;B	0.18461	0.026;0.028	B;B	0.11329	0.006;0.004	T	0.09662	-1.0664	9	0.59425	D	0.04	-0.4734	3.6605	0.08237	0.0892:0.1326:0.2405:0.5376	.	353;1018	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	V	1018;1018;353;1018	ENSP00000354159:A1018V;ENSP00000385428:A1018V;ENSP00000339666:A353V;ENSP00000385090:A1018V	ENSP00000339666:A353V	A	-	2	0	NLRC4	32303068	0.003000	0.15002	0.108000	0.21378	0.686000	0.39977	-1.349000	0.02627	-0.104000	0.12154	-0.157000	0.13467	GCT		0.363	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475010	32475010	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32475010T>A	ENST00000404025.2	-	5	2411	c.1923A>T	c.(1921-1923)gaA>gaT	p.E641D	NLRC4_ENST00000402280.1_Missense_Mutation_p.E641D|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E641D			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	641					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E641D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAATGTAGGTTTCTGGGGCCT	0.493																																					p.E641D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1923T	2						.						138.0	150.0	146.0					2																	32475010		2203	4300	6503	32328514	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1923A>T	2.37:g.32475010T>A	ENSP00000385090:p.Glu641Asp		32328514	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	T	2.877	-0.232602	0.05983	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.51574	0.7;0.7;0.7	3.58	-0.812	0.10853	.	0.913477	0.08946	N	0.870812	T	0.22166	0.0534	N	0.08118	0	0.29476	N	0.856711	B	0.10296	0.003	B	0.08055	0.003	T	0.34527	-0.9825	9	0.13853	T	0.58	.	6.1991	0.20565	0.0:0.1032:0.4332:0.4636	.	641	Q9NPP4	NLRC4_HUMAN	D	641	ENSP00000354159:E641D;ENSP00000385428:E641D;ENSP00000385090:E641D	ENSP00000354159:E641D	E	-	3	2	NLRC4	32328514	0.523000	0.26274	0.332000	0.25469	0.689000	0.40095	0.072000	0.14617	0.094000	0.17404	-0.451000	0.05528	GAA		0.493	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475156	32475156	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32475156C>T	ENST00000404025.2	-	5	2265	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	NLRC4_ENST00000402280.1_Missense_Mutation_p.D593N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.D593N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.D593N(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATAAGTAATCGGGGATGTTC	0.398																																					p.D593N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1777A	2						.						96.0	99.0	98.0					2																	32475156		2203	4300	6503	32328660	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1777G>A	2.37:g.32475156C>T	ENSP00000385090:p.Asp593Asn		32328660	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.722865	0.15439	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.54675	0.56;0.56;0.56	3.0	3.0	0.34707	.	0.296248	0.23720	N	0.045226	T	0.41971	0.1182	L	0.27053	0.805	0.31540	N	0.660023	D	0.65815	0.995	P	0.51777	0.679	T	0.50013	-0.8877	9	0.37606	T	0.19	.	3.8079	0.08785	0.2435:0.6285:0.0:0.128	.	593	Q9NPP4	NLRC4_HUMAN	N	593	ENSP00000354159:D593N;ENSP00000385428:D593N;ENSP00000385090:D593N	ENSP00000354159:D593N	D	-	1	0	NLRC4	32328660	0.707000	0.27866	0.980000	0.43619	0.691000	0.40173	1.097000	0.30988	2.007000	0.58848	0.543000	0.68304	GAT		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
NLRC4	58484	broad.mit.edu	37	2	32475708	32475708	+	Missense_Mutation	SNP	C	C	T	rs144123569		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32475708C>T	ENST00000404025.2	-	5	1713	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	NLRC4_ENST00000402280.1_Missense_Mutation_p.E409K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E409K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	409	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.E409K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTGCAGTTCGAAATCAAAC	0.473													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22313	0.0		0.0	False		,,,				2504	0.0				p.E409K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1225A	2						.						55.0	57.0	57.0					2																	32475708		2203	4300	6503	32329212	SO:0001583	missense	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1225G>A	2.37:g.32475708C>T	ENSP00000385090:p.Glu409Lys		32329212	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	CCDS33174.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.006	-2.077324	0.00375	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.10860	2.83;2.83;2.83	2.97	-1.66	0.08265	.	1.102920	0.07138	N	0.846839	T	0.09069	0.0224	L	0.44542	1.39	0.23192	N	0.998144	B	0.09022	0.002	B	0.04013	0.001	T	0.40156	-0.9578	9	0.27082	T	0.32	.	6.1007	0.20045	0.0:0.3531:0.3734:0.2735	.	409	Q9NPP4	NLRC4_HUMAN	K	409	ENSP00000354159:E409K;ENSP00000385428:E409K;ENSP00000385090:E409K	ENSP00000354159:E409K	E	-	1	0	NLRC4	32329212	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.681000	0.05191	-0.970000	0.03569	-2.441000	0.00211	GAA		0.473	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
BIRC6	57448	broad.mit.edu	37	2	32702499	32702499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32702499G>T	ENST00000421745.2	+	35	7050	c.6916G>T	c.(6916-6918)Gaa>Taa	p.E2306*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2306					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.E2278*(1)|p.E2306*(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)					TTTAGACACAGAAGTTACAAC	0.383																																					p.E2306X	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6916T	2						.						146.0	137.0	140.0					2																	32702499		2203	4300	6503	32556003	SO:0001587	stop_gained	57448	exon35			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.6916G>T	2.37:g.32702499G>T	ENSP00000393596:p.Glu2306*		32556003	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	49	15.258168	0.99828	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.8	5.8	0.92144	.	0.068128	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0716	0.97726	0.0:0.0:1.0:0.0	.	.	.	.	X	2306	.	ENSP00000393596:E2306X	E	+	1	0	BIRC6	32556003	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.727000	0.98787	2.741000	0.93983	0.585000	0.79938	GAA		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32733313	32733313	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32733313G>A	ENST00000421745.2	+	51	10101	c.9967G>A	c.(9967-9969)Gta>Ata	p.V3323I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3323					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.V3323I(1)|p.V3295I(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)					TGAAGATCAGGTATCCAAAAC	0.343																																					p.V3323I	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9967A	2						.						39.0	35.0	36.0					2																	32733313		2203	4300	6503	32586817	SO:0001583	missense	57448	exon51			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.9967G>A	2.37:g.32733313G>A	ENSP00000393596:p.Val3323Ile		32586817	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673126	0.67928	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82692	0.5092	L	0.47716	1.5	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.80540	-0.1337	10	0.39692	T	0.17	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	3323	Q9NR09	BIRC6_HUMAN	I	3323	ENSP00000393596:V3323I	ENSP00000393596:V3323I	V	+	1	0	BIRC6	32586817	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.375000	0.97178	2.736000	0.93811	0.655000	0.94253	GTA		0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32819112	32819112	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:32819112C>T	ENST00000421745.2	+	67	13620	c.13486C>T	c.(13486-13488)Cgg>Tgg	p.R4496W		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4496					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.R4496W(1)|p.R4468W(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)					CACCAGTTTGCGGCAAGCAAA	0.398																																					p.R4496W	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C13486T	2						.						73.0	72.0	72.0					2																	32819112		2203	4300	6503	32672616	SO:0001583	missense	57448	exon67			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.13486C>T	2.37:g.32819112C>T	ENSP00000393596:p.Arg4496Trp		32672616	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579847	0.46006	.	.	ENSG00000115760	ENST00000421745	T	0.75050	-0.9	5.51	2.58	0.30949	.	0.060703	0.64402	D	0.000004	T	0.64305	0.2586	L	0.43152	1.355	0.58432	D	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.61158	-0.7119	10	0.66056	D	0.02	.	9.3902	0.38367	0.2564:0.6761:0.0:0.0675	.	4496	Q9NR09	BIRC6_HUMAN	W	4496	ENSP00000393596:R4496W	ENSP00000393596:R4496W	R	+	1	2	BIRC6	32672616	0.957000	0.32711	0.994000	0.49952	0.886000	0.51366	1.466000	0.35310	0.659000	0.30945	0.650000	0.86243	CGG		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
CRIM1	51232	broad.mit.edu	37	2	36623787	36623787	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:36623787G>A	ENST00000280527.2	+	2	729	c.362G>A	c.(361-363)gGt>gAt	p.G121D		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	121					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G121D(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAACTGCTTGGTTTTAAACCA	0.398																																					p.G121D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G362A	2						.						105.0	102.0	103.0					2																	36623787		2203	4300	6503	36477291	SO:0001583	missense	51232	exon2			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.362G>A	2.37:g.36623787G>A	ENSP00000280527:p.Gly121Asp		36477291	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558290	0.86231	.	.	ENSG00000150938	ENST00000280527	T	0.04406	3.63	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.59436	1.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.00118	-1.2034	10	0.59425	D	0.04	-12.3171	17.8252	0.88662	0.0:0.0:1.0:0.0	.	121	Q9NZV1	CRIM1_HUMAN	D	121	ENSP00000280527:G121D	ENSP00000280527:G121D	G	+	2	0	CRIM1	36477291	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.398000	0.73244	2.447000	0.82792	0.585000	0.79938	GGT		0.398	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
STRN	6801	broad.mit.edu	37	2	37085086	37085086	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:37085086A>C	ENST00000263918.4	-	14	1758	c.1750T>G	c.(1750-1752)Ttg>Gtg	p.L584V	STRN_ENST00000379213.2_Missense_Mutation_p.L535V	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	584					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.L584V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CAGGACAACAAACGCTGATGT	0.428																																					p.L584V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1750G	2						.						63.0	59.0	60.0					2																	37085086		2203	4300	6503	36938590	SO:0001583	missense	6801	exon14			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1750T>G	2.37:g.37085086A>C	ENSP00000263918:p.Leu584Val		36938590	NM_003162	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999670	0.74818	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.67698	-0.28;-0.28	5.27	1.58	0.23477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	L	0.58969	1.84	0.58432	D	0.999999	D;D	0.71674	0.994;0.998	D;D	0.73380	0.977;0.98	T	0.69457	-0.5140	10	0.45353	T	0.12	-7.4433	8.898	0.35476	0.7848:0.0:0.2152:0.0	.	535;584	O43815-2;O43815	.;STRN_HUMAN	V	584;559;535	ENSP00000263918:L584V;ENSP00000368513:L535V	ENSP00000263918:L584V	L	-	1	2	STRN	36938590	1.000000	0.71417	0.950000	0.38849	0.996000	0.88848	2.387000	0.44389	0.039000	0.15632	0.397000	0.26171	TTG		0.428	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
MAP4K3	8491	broad.mit.edu	37	2	39487900	39487900	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:39487900G>A	ENST00000263881.3	-	29	2479	c.2155C>T	c.(2155-2157)Cca>Tca	p.P719S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.P698S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P635S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.P272S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	719	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.P719S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGTGGACATGGTATAGGAAAA	0.348																																					p.P719S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2155T	2						.						70.0	68.0	68.0					2																	39487900		2203	4300	6503	39341404	SO:0001583	missense	8491	exon29			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2155C>T	2.37:g.39487900G>A	ENSP00000263881:p.Pro719Ser		39341404	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458655	0.84317	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000542094;ENST00000536018	T;T;T;T	0.76060	-0.99;-0.81;-0.96;1.96	4.98	4.98	0.66077	Citron-like (3);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.87509	0.2438	10	0.51188	T	0.08	.	18.4448	0.90680	0.0:0.0:1.0:0.0	.	698;719	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	719;635;698;15;272	ENSP00000263881:P719S;ENSP00000416958:P635S;ENSP00000345434:P698S;ENSP00000440580:P272S	ENSP00000263881:P719S	P	-	1	0	MAP4K3	39341404	1.000000	0.71417	0.533000	0.28001	0.818000	0.46254	7.599000	0.82757	2.580000	0.87095	0.655000	0.94253	CCA		0.348	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
THADA	63892	broad.mit.edu	37	2	43804227	43804227	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:43804227C>T	ENST00000405006.4	-	10	1322	c.971G>A	c.(970-972)aGc>aAc	p.S324N	THADA_ENST00000330266.7_Missense_Mutation_p.S34N|THADA_ENST00000415080.2_Missense_Mutation_p.S34N|THADA_ENST00000403856.1_Missense_Mutation_p.S324N|THADA_ENST00000405975.2_Missense_Mutation_p.S324N|THADA_ENST00000402360.2_Missense_Mutation_p.S324N|THADA_ENST00000404790.1_Missense_Mutation_p.S324N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	324								p.S324N(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)				CCGACCCATGCTTCCGTTCTG	0.498											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S324N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G971A	2						.						62.0	65.0	64.0					2																	43804227		1972	4168	6140	43657731	SO:0001583	missense	63892	exon10			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.971G>A	2.37:g.43804227C>T	ENSP00000385995:p.Ser324Asn	919	43657731	NM_001083953	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484341	0.26598	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.32272	1.51;2.88;2.73;2.88;1.48;1.47;1.46	5.55	3.72	0.42706	.	0.564634	0.20212	N	0.096864	T	0.26882	0.0658	L	0.50333	1.59	0.25754	N	0.985023	B;B;B;B;B	0.18310	0.027;0.003;0.004;0.001;0.002	B;B;B;B;B	0.15484	0.013;0.004;0.009;0.002;0.002	T	0.07158	-1.0787	10	0.35671	T	0.21	0.2511	10.9571	0.47364	0.0:0.8228:0.0:0.1772	.	324;324;324;34;324	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	N	34;324;324;34;324;324;324;324	ENSP00000331105:S34N;ENSP00000386088:S324N;ENSP00000416048:S34N;ENSP00000385995:S324N;ENSP00000385441:S324N;ENSP00000384266:S324N;ENSP00000385469:S324N	ENSP00000331105:S34N	S	-	2	0	THADA	43657731	0.013000	0.17824	0.999000	0.59377	0.434000	0.31775	0.039000	0.13884	2.614000	0.88457	0.561000	0.74099	AGC		0.498	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
PLEKHH2	130271	broad.mit.edu	37	2	43927278	43927278	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:43927278G>T	ENST00000282406.4	+	8	1291	c.1181G>T	c.(1180-1182)aGa>aTa	p.R394I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	394					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.R394I(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)				CAATCCCAGAGACTCGATTAT	0.393																																					p.R394I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1181T	2						.						64.0	63.0	63.0					2																	43927278		2203	4300	6503	43780782	SO:0001583	missense	130271	exon8			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.1181G>T	2.37:g.43927278G>T	ENSP00000282406:p.Arg394Ile		43780782	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138481	0.37728	.	.	ENSG00000152527	ENST00000282406	T	0.73789	-0.78	5.59	4.68	0.58851	.	0.410721	0.26844	N	0.022201	T	0.74129	0.3676	L	0.50333	1.59	0.41104	D	0.985693	P;D	0.53151	0.627;0.958	B;P	0.51135	0.064;0.66	T	0.75342	-0.3351	10	0.52906	T	0.07	-6.5183	10.2154	0.43166	0.0709:0.0:0.7926:0.1366	.	394;394	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	I	394	ENSP00000282406:R394I	ENSP00000282406:R394I	R	+	2	0	PLEKHH2	43780782	0.992000	0.36948	1.000000	0.80357	0.836000	0.47400	2.398000	0.44486	2.635000	0.89317	0.563000	0.77884	AGA		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DYNC2LI1	51626	broad.mit.edu	37	2	44023043	44023043	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:44023043T>G	ENST00000260605.8	+	7	622	c.522T>G	c.(520-522)atT>atG	p.I174M	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.I175M|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.I48M	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	174					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.I174M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATGAATTAATTGACCCATTTC	0.348																																					p.I175M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T525G	2						.						132.0	127.0	129.0					2																	44023043		2203	4300	6503	43876547	SO:0001583	missense	51626	exon7				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.522T>G	2.37:g.44023043T>G	ENSP00000260605:p.Ile174Met		43876547	NM_001193464	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.77|13.77	2.335835|2.335835	0.41398|0.41398	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000443170|ENST00000378587	T;T|.	0.36340|.	1.26;1.26|.	5.24|5.24	1.56|1.56	0.23342|0.23342	.|.	0.191757|.	0.53938|.	D|.	0.000056|.	T|T	0.55146|0.55146	0.1902|0.1902	L|L	0.56769|0.56769	1.78|1.78	0.39861|0.39861	D|D	0.973381|0.973381	B;B;B|.	0.25772|.	0.11;0.134;0.11|.	B;B;B|.	0.37198|.	0.157;0.243;0.157|.	T|T	0.50808|0.50808	-0.8784|-0.8784	10|5	0.44086|.	T|.	0.13|.	-10.597|-10.597	4.5294|4.5294	0.11997|0.11997	0.1319:0.22:0.0:0.648|0.1319:0.22:0.0:0.648	.|.	175;174;174|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3|.	.;DC2L1_HUMAN;.|.	M|W	174;48|158	ENSP00000260605:I174M;ENSP00000388941:I48M|.	ENSP00000260605:I174M|.	I|L	+|+	3|2	3|0	DYNC2LI1|DYNC2LI1	43876547|43876547	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.990000|0.990000	0.78478|0.78478	0.920000|0.920000	0.28705|0.28705	0.475000|0.475000	0.27415|0.27415	0.482000|0.482000	0.46254|0.46254	ATT|TTG		0.348	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
DYNC2LI1	51626	broad.mit.edu	37	2	44023914	44023914	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:44023914T>C	ENST00000260605.8	+	8	734	c.634T>C	c.(634-636)Tat>Cat	p.Y212H	DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.Y213H|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.Y86H	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	212					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.Y212H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTGCACATTATTATGGAGC	0.348																																					p.Y213H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T637C	2						.						163.0	150.0	154.0					2																	44023914		2203	4300	6503	43877418	SO:0001583	missense	51626	exon8				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.634T>C	2.37:g.44023914T>C	ENSP00000260605:p.Tyr212His		43877418	NM_001193464	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598764	0.28445	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.27104	1.69;1.69	5.02	3.88	0.44766	.	0.449069	0.26586	N	0.023545	T	0.16685	0.0401	L	0.27053	0.805	0.36912	D	0.890977	B;B;B	0.24043	0.096;0.058;0.096	B;B;B	0.25405	0.035;0.016;0.06	T	0.12682	-1.0538	10	0.17369	T	0.5	-7.718	10.3174	0.43745	0.0:0.0766:0.0:0.9234	.	213;212;212	Q8TCX1-2;Q8TCX1;Q8TCX1-3	.;DC2L1_HUMAN;.	H	212;86	ENSP00000260605:Y212H;ENSP00000388941:Y86H	ENSP00000260605:Y212H	Y	+	1	0	DYNC2LI1	43877418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.915000	0.63355	0.946000	0.37632	0.528000	0.53228	TAT		0.348	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
LRPPRC	10128	broad.mit.edu	37	2	44174888	44174888	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:44174888C>A	ENST00000260665.7	-	19	2004	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	649					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K649N(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTCTAAATTCTTACTCTCAA	0.299																																					p.K649N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1947T	2						.						64.0	65.0	64.0					2																	44174888		2202	4290	6492	44028392	SO:0001583	missense	10128	exon19			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1947G>T	2.37:g.44174888C>A	ENSP00000260665:p.Lys649Asn		44028392	NM_133259	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	C	7.815	0.716526	0.15306	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.57752	0.38	5.6	5.6	0.85130	.	1.127620	0.06416	N	0.721456	T	0.33089	0.0851	N	0.14661	0.345	0.80722	D	1	P;B	0.36282	0.546;0.002	B;B	0.26094	0.066;0.002	T	0.08166	-1.0735	10	0.24483	T	0.36	-11.2136	9.0238	0.36215	0.0:0.8754:0.0:0.1246	.	549;649	F5H4J6;P42704	.;LPPRC_HUMAN	N	549;649	ENSP00000260665:K649N	ENSP00000260665:K649N	K	-	3	2	LRPPRC	44028392	0.228000	0.23718	1.000000	0.80357	0.130000	0.20726	1.632000	0.37102	2.806000	0.96561	0.655000	0.94253	AAG		0.299	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
MCFD2	90411	broad.mit.edu	37	2	47132679	47132679	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:47132679C>A	ENST00000409105.1	-	5	543	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	MCFD2_ENST00000409973.1_Missense_Mutation_p.D122Y|MCFD2_ENST00000493804.1_5'UTR|MCFD2_ENST00000409207.1_Missense_Mutation_p.D122Y|MCFD2_ENST00000409147.1_Missense_Mutation_p.D70Y|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000319466.4_Missense_Mutation_p.D122Y|MCFD2_ENST00000409913.1_Missense_Mutation_p.D70Y|MCFD2_ENST00000409218.1_Missense_Mutation_p.D122Y|MCFD2_ENST00000409800.1_Missense_Mutation_p.D70Y|MCFD2_ENST00000444761.2_Missense_Mutation_p.D103Y	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	122	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.D122Y(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	AAAACACCATCTATTATGTTA	0.378																																					p.D122Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364T	2						.						253.0	193.0	213.0					2																	47132679		2203	4300	6503	46986183	SO:0001583	missense	90411	exon4			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.364G>T	2.37:g.47132679C>A	ENSP00000386651:p.Asp122Tyr		46986183	NM_001171507	A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	37	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801050	0.90538	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438	D;D;D;D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	5.52	5.52	0.82312	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98485	0.9495	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99113	1.0847	10	0.87932	D	0	-15.337	19.2223	0.93803	0.0:1.0:0.0:0.0	.	103;122	E9PD95;Q8NI22	.;MCFD2_HUMAN	Y	103;122;70;122;70;122;122;70;122;122	ENSP00000394647:D103Y;ENSP00000386651:D122Y;ENSP00000386941:D70Y;ENSP00000317271:D122Y;ENSP00000387202:D70Y;ENSP00000386386:D122Y;ENSP00000386279:D122Y;ENSP00000387082:D70Y;ENSP00000386261:D122Y;ENSP00000402717:D122Y	ENSP00000317271:D122Y	D	-	1	0	MCFD2	46986183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.273000	0.78527	2.873000	0.98535	0.563000	0.77884	GAT		0.378	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279	
MSH2	4436	broad.mit.edu	37	2	47657038	47657038	+	Missense_Mutation	SNP	A	A	C	rs63751644		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:47657038A>C	ENST00000233146.2	+	7	1457	c.1234A>C	c.(1234-1236)Aat>Cat	p.N412H	MSH2_ENST00000406134.1_Missense_Mutation_p.N412H|MSH2_ENST00000543555.1_Missense_Mutation_p.N346H	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	412					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.N412H(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGGGTATAAATCAACTACC	0.353			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.N412H		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)	c.A1234C	2						.						74.0	68.0	70.0					2																	47657038		2203	4300	6503	47510542	SO:0001583	missense	4436	exon7	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1234A>C	2.37:g.47657038A>C	ENSP00000233146:p.Asn412His		47510542	NM_000251	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.793|9.793	1.178533|1.178533	0.21787|0.21787	.|.	.|.	ENSG00000095002|ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880|ENST00000448533	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.45|5.45	5.45|5.45	0.79879|0.79879	DNA mismatch repair protein MutS, core (3);|.	0.229818|.	0.51477|.	D|.	0.000083|.	T|.	0.76807|.	0.4039|.	M|M	0.80183|0.80183	2.485|2.485	0.50467|0.50467	D|D	0.999874|0.999874	B;B;B|.	0.14805|.	0.004;0.011;0.002|.	B;B;B|.	0.15052|.	0.006;0.01;0.012|.	T|.	0.78526|.	-0.2170|.	10|.	0.44086|.	T|.	0.13|.	-11.4304|-11.4304	15.5058|15.5058	0.75739|0.75739	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	346;412;412|.	B4E2Z2;E9PHA6;P43246|.	.;.;MSH2_HUMAN|.	H|Y	412;346;412;412;412;412;62;198|411	ENSP00000233146:N412H;ENSP00000442697:N346H;ENSP00000384199:N412H|.	ENSP00000233146:N412H|.	N|X	+|+	1|3	0|2	MSH2|MSH2	47510542|47510542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.212000|4.212000	0.58514|0.58514	2.078000|2.078000	0.62432|0.62432	0.529000|0.529000	0.55759|0.55759	AAT|TAA		0.353	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	broad.mit.edu	37	2	48033753	48033753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:48033753G>T	ENST00000234420.5	+	9	4116	c.3964G>T	c.(3964-3966)Gaa>Taa	p.E1322*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1192*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E1020*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1322					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.E1322*(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAAGCAAGAGAATTTGAGAA	0.343			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E1322X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	4	Substitution - Nonsense(2)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	c.G3964T	2						.						49.0	51.0	50.0					2																	48033753		2203	4300	6503	47887257	SO:0001587	stop_gained	2956	exon9	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3964G>T	2.37:g.48033753G>T	ENSP00000234420:p.Glu1322*		47887257	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	46	12.222035	0.99648	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	6.03	5.12	0.69794	.	0.044936	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-22.7694	17.4293	0.87535	0.0:0.1238:0.8762:0.0	.	.	.	.	X	1322;286;1192;1020	.	ENSP00000234420:E1322X	E	+	1	0	MSH6	47887257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.861000	0.98227	0.655000	0.94253	GAA		0.343	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
FBXO11	80204	broad.mit.edu	37	2	48036302	48036302	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:48036302G>T	ENST00000403359.3	-	21	2622	c.2550C>A	c.(2548-2550)ttC>ttA	p.F850L	FBXO11_ENST00000402508.1_Missense_Mutation_p.F766L|FBXO11_ENST00000434523.2_Missense_Mutation_p.F274L|FBXO11_ENST00000316377.4_Missense_Mutation_p.F766L|FBXO11_ENST00000405808.1_Missense_Mutation_p.F4L|MSH6_ENST00000234420.5_3'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	850					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.F766L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTACCTGTAGAAATCATGCA	0.338			"""Mis, F, D"""		DLBCL																																p.F850L			Rec	yes		2	2p16.3	80204	F-box protein 11		L	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.C2550A	2						.						100.0	104.0	103.0					2																	48036302		2202	4297	6499	47889806	SO:0001583	missense	80204	exon21			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2550C>A	2.37:g.48036302G>T	ENSP00000384823:p.Phe850Leu		47889806	NM_001190274	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157988	0.78114	.	.	ENSG00000138081	ENST00000405808;ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	4.95	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	N	0.12663	0.25	0.80722	D	1	B	0.29862	0.259	B	0.43386	0.418	T	0.76271	-0.3020	10	0.66056	D	0.02	-3.4524	13.5865	0.61933	0.075:0.0:0.925:0.0	.	274	B3KUR1	.	L	4;766;850;766;274	ENSP00000385127:F4L;ENSP00000385398:F766L;ENSP00000384823:F850L;ENSP00000323822:F766L;ENSP00000397359:F274L	ENSP00000323822:F766L	F	-	3	2	FBXO11	47889806	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.582000	0.53921	1.438000	0.47492	0.561000	0.74099	TTC		0.338	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133	
FOXN2	3344	broad.mit.edu	37	2	48573767	48573767	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:48573767T>G	ENST00000340553.3	+	3	675	c.414T>G	c.(412-414)atT>atG	p.I138M		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	138					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I138M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCAAAGAAATTTATAGCTGGA	0.378																																					p.I138M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T414G	2						.						108.0	121.0	117.0					2																	48573767		2203	4299	6502	48427271	SO:0001583	missense	3344	exon3				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.414T>G	2.37:g.48573767T>G	ENSP00000343633:p.Ile138Met		48427271	NM_002158	Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.092426	0.55968	.	.	ENSG00000170802	ENST00000413569;ENST00000304367;ENST00000340553	D;D	0.97731	-4.51;-4.51	5.28	4.09	0.47781	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98866	1.0764	10	0.87932	D	0	.	5.1258	0.14884	0.1435:0.1346:0.0:0.7219	.	138	P32314	FOXN2_HUMAN	M	138;47;138	ENSP00000388486:I138M;ENSP00000343633:I138M	ENSP00000305685:I47M	I	+	3	3	FOXN2	48427271	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.214000	0.32419	2.212000	0.71576	0.482000	0.46254	ATT		0.378	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158	
STON1	11037	broad.mit.edu	37	2	48808452	48808452	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:48808452A>G	ENST00000406226.1	+	3	875	c.680A>G	c.(679-681)aAc>aGc	p.N227S	STON1_ENST00000404752.1_Missense_Mutation_p.N227S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.N227S|STON1_ENST00000309835.3_Missense_Mutation_p.N227S|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.N227S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.N227S|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.N227S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.N227S	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	227					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.N227S(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTCACTCAACTATATCTGT	0.413																																					p.N227S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A680G	2						.						83.0	77.0	79.0					2																	48808452		2203	4300	6503	48661956	SO:0001583	missense	286749	exon1			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.680A>G	2.37:g.48808452A>G	ENSP00000384615:p.Asn227Ser		48661956	NM_001198594	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	0.357	-0.941320	0.02322	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.13;3.13;3.13;3.13;3.28	5.24	-0.139	0.13460	.	0.477909	0.26590	N	0.023527	T	0.02970	0.0088	N	0.04297	-0.235	0.20563	N	0.999885	B;B;B	0.22746	0.074;0.002;0.004	B;B;B	0.21708	0.036;0.001;0.005	T	0.46190	-0.9209	10	0.02654	T	1	.	11.1576	0.48497	0.4713:0.0:0.5287:0.0	.	227;227;227	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	S	227	ENSP00000385273:N227S;ENSP00000384615:N227S;ENSP00000310969:N227S;ENSP00000385499:N227S;ENSP00000385701:N227S;ENSP00000378236:N227S;ENSP00000311493:N227S;ENSP00000378234:N227S	ENSP00000310969:N227S	N	+	2	0	STON1-GTF2A1L;STON1	48661956	0.912000	0.30974	0.980000	0.43619	0.783000	0.44284	0.033000	0.13754	-0.091000	0.12440	0.533000	0.62120	AAC		0.413	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
STON1	11037	broad.mit.edu	37	2	48809174	48809174	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:48809174G>T	ENST00000406226.1	+	3	1597	c.1402G>T	c.(1402-1404)Gaa>Taa	p.E468*	STON1_ENST00000404752.1_Nonsense_Mutation_p.E468*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.E468*|STON1_ENST00000309835.3_Nonsense_Mutation_p.E468*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.E468*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.E468*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.E468*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.E468*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	468	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.E468*(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAGCGAGATGAATCCTATTA	0.368																																					p.E468X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1402T	2						.						116.0	122.0	120.0					2																	48809174		2203	4300	6503	48662678	SO:0001587	stop_gained	286749	exon1			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1402G>T	2.37:g.48809174G>T	ENSP00000384615:p.Glu468*		48662678	NM_001198594	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447235	0.96205	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.3	5.3	0.74995	.	0.554178	0.21819	N	0.068646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4615	0.55734	0.0757:0.0:0.9243:0.0	.	.	.	.	X	468	.	ENSP00000310969:E468X	E	+	1	0	STON1-GTF2A1L;STON1	48662678	1.000000	0.71417	0.926000	0.36857	0.204000	0.24138	2.781000	0.47750	2.769000	0.95229	0.655000	0.94253	GAA		0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873	
MTIF2	4528	broad.mit.edu	37	2	55471182	55471182	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:55471182G>T	ENST00000263629.4	-	11	1609	c.1294C>A	c.(1294-1296)Ctt>Att	p.L432I	MTIF2_ENST00000403721.1_Missense_Mutation_p.L432I|MTIF2_ENST00000394600.3_Missense_Mutation_p.L432I	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	432					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L432I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TCTACTTCAAGAATTTCTTCT	0.343																																					p.L432I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1294A	2						.						62.0	59.0	60.0					2																	55471182		2203	4300	6503	55324686	SO:0001583	missense	4528	exon12			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1294C>A	2.37:g.55471182G>T	ENSP00000263629:p.Leu432Ile		55324686	NM_001005369	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488129	0.64074	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023	T;T;T	0.60672	0.17;0.17;0.17	5.88	4.99	0.66335	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	N	0.20807	0.61	0.80722	D	1	B	0.15719	0.014	P	0.45138	0.471	T	0.59621	-0.7420	10	0.41790	T	0.15	-8.4488	16.22	0.82254	0.0:0.0:0.8659:0.1341	.	432	P46199	IF2M_HUMAN	I	432	ENSP00000384481:L432I;ENSP00000263629:L432I;ENSP00000378099:L432I	ENSP00000263629:L432I	L	-	1	0	MTIF2	55324686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.534000	0.73833	1.445000	0.47624	0.650000	0.86243	CTT		0.343	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
CCDC88A	55704	broad.mit.edu	37	2	55571636	55571636	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:55571636G>A	ENST00000436346.1	-	11	1897	c.1056C>T	c.(1054-1056)gaC>gaT	p.D352D	CCDC88A_ENST00000263630.8_Silent_p.D352D|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.D352D|CCDC88A_ENST00000336838.6_Silent_p.D352D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	352					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.D352D(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						AAACTTGATTGTCTTCTTTTA	0.279																																					p.D352D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056T	2						.						92.0	94.0	93.0					2																	55571636		2202	4297	6499	55425140	SO:0001819	synonymous_variant	55704	exon11			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.1056C>T	2.37:g.55571636G>A			55425140	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37																																																																																					0.279	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
XPO1	7514	broad.mit.edu	37	2	61719472	61719472	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:61719472C>T	ENST00000401558.2	-	15	2438	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	XPO1_ENST00000406957.1_Missense_Mutation_p.E571K|XPO1_ENST00000404992.2_Missense_Mutation_p.E571K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	571	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.E571K(5)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGCATGAATTCGAACAGCTTG	0.313			Mis		CLL																																p.E571K		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	.	.	5	Substitution - Missense(5)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|prostate(1)|endometrium(1)	c.G1711A	2						.						66.0	63.0	64.0					2																	61719472		2203	4300	6503	61572976	SO:0001583	missense	7514	exon15			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1711G>A	2.37:g.61719472C>T	ENSP00000384863:p.Glu571Lys		61572976	NM_003400	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629400	0.96671	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66099	-0.19;-0.19;-0.19	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88632	0.3170	10	0.66056	D	0.02	-19.4383	20.0572	0.97657	0.0:1.0:0.0:0.0	.	218;571	B3KWD0;O14980	.;XPO1_HUMAN	K	571	ENSP00000384863:E571K;ENSP00000385942:E571K;ENSP00000385559:E571K	ENSP00000384863:E571K	E	-	1	0	XPO1	61572976	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.722000	0.84778	2.826000	0.97356	0.655000	0.94253	GAA		0.313	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400	
AFTPH	54812	broad.mit.edu	37	2	64779347	64779347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:64779347G>T	ENST00000422803.1	+	2	1053	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	AFTPH_ENST00000238855.7_Nonsense_Mutation_p.E247*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.E247*|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.E247*			Q6ULP2	AFTIN_HUMAN	aftiphilin	247					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.E247*(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						ACAATTAGAAGAAATAGAATG	0.343																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	2						.						46.0	49.0	48.0					2																	64779347		2203	4299	6502	64632851	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.739G>T	2.37:g.64779347G>T	ENSP00000397726:p.Glu247*		64632851	NM_017657	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37		.	.	.	.	.	.	.	.	.	.	G	38	7.095496	0.98059	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	.	.	.	5.78	5.78	0.91487	.	0.158539	0.44902	D	0.000406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-8.7126	20.3754	0.98918	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000238855:E247X	E	+	1	0	AFTPH	64632851	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	5.161000	0.64935	2.894000	0.99253	0.591000	0.81541	GAA		0.343	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657	
MEIS1	4211	broad.mit.edu	37	2	66664875	66664875	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:66664875G>A	ENST00000272369.9	+	2	476	c.19G>A	c.(19-21)Gat>Aat	p.D7N	MEIS1_ENST00000398506.2_Missense_Mutation_p.D5N|MEIS1_ENST00000560281.2_Missense_Mutation_p.D7N|MEIS1_ENST00000444274.2_5'Flank|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000495021.2_5'Flank|MEIS1_ENST00000407092.2_Missense_Mutation_p.D7N|MEIS1_ENST00000488550.1_Missense_Mutation_p.D7N|MEIS1-AS2_ENST00000439433.1_RNA	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	7					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.D7N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCAGTACGACGATCTACCCCA	0.567																																					p.D7N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	2						.						46.0	45.0	45.0					2																	66664875		2000	4180	6180	66518379	SO:0001583	missense	4211	exon2				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.19G>A	2.37:g.66664875G>A	ENSP00000272369:p.Asp7Asn		66518379	NM_002398	A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738665	0.89573	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506	T;T;T	0.28895	1.59;1.59;1.59	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	L	0.38175	1.15	0.80722	D	1	P;B;P	0.48350	0.909;0.332;0.909	P;B;P	0.47941	0.562;0.096;0.562	T	0.10590	-1.0623	10	0.72032	D	0.01	.	19.3962	0.94608	0.0:0.0:1.0:0.0	.	5;7;7	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	N	7;7;5	ENSP00000272369:D7N;ENSP00000384461:D7N;ENSP00000381518:D5N	ENSP00000272369:D7N	D	+	1	0	MEIS1	66518379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.149000	0.94659	2.746000	0.94184	0.655000	0.94253	GAT		0.567	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
ETAA1	54465	broad.mit.edu	37	2	67631445	67631445	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:67631445C>T	ENST00000272342.5	+	5	1761	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	544						cytoplasm (GO:0005737)		p.A544V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCTATTAAAGCCCCTGTTAAT	0.353																																					p.A544V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1631T	2						.						49.0	51.0	50.0					2																	67631445		2203	4298	6501	67484949	SO:0001583	missense	54465	exon5			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1631C>T	2.37:g.67631445C>T	ENSP00000272342:p.Ala544Val		67484949	NM_019002	Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.557056	0.00136	.	.	ENSG00000143971	ENST00000272342	T	0.15372	2.43	5.61	1.11	0.20524	.	0.795302	0.11594	N	0.548409	T	0.06050	0.0157	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.40590	-0.9555	10	0.02654	T	1	-25.2659	1.4896	0.02454	0.1423:0.3766:0.1402:0.341	.	544	Q9NY74	ETAA1_HUMAN	V	544	ENSP00000272342:A544V	ENSP00000272342:A544V	A	+	2	0	ETAA1	67484949	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.418000	0.07080	0.293000	0.22520	0.655000	0.94253	GCC		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002	
PLEK	5341	broad.mit.edu	37	2	68607958	68607958	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:68607958A>C	ENST00000234313.7	+	3	481	c.302A>C	c.(301-303)aAa>aCa	p.K101T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	101	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.K101T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGGCCATTAAATGCATTGAA	0.473																																					p.K101T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A302C	2						.						138.0	135.0	136.0					2																	68607958		2203	4300	6503	68461462	SO:0001583	missense	5341	exon3			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.302A>C	2.37:g.68607958A>C	ENSP00000234313:p.Lys101Thr		68461462	NM_002664	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236414	0.39498	.	.	ENSG00000115956	ENST00000234313	T	0.76968	-1.06	5.8	4.65	0.58169	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.132017	0.64402	D	0.000003	T	0.43433	0.1247	N	0.00554	-1.385	0.40159	D	0.977043	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.004	T	0.30297	-0.9983	10	0.21014	T	0.42	.	7.6739	0.28473	0.789:0.1404:0.0706:0.0	.	119;101	Q59GZ2;P08567	.;PLEK_HUMAN	T	101	ENSP00000234313:K101T	ENSP00000234313:K101T	K	+	2	0	PLEK	68461462	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.724000	0.54962	1.026000	0.39733	0.533000	0.62120	AAA		0.473	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664	
PROKR1	10887	broad.mit.edu	37	2	68882498	68882498	+	Missense_Mutation	SNP	C	C	A	rs377223485		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:68882498C>A	ENST00000303786.3	+	3	1392	c.972C>A	c.(970-972)ttC>ttA	p.F324L	PROKR1_ENST00000394342.2_Missense_Mutation_p.F324L			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	324					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.F324L(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCACTGCCTTCTACATCGTCG	0.532																																					p.F324L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C972A	2						.						189.0	135.0	153.0					2																	68882498		2203	4300	6503	68736002	SO:0001583	missense	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.972C>A	2.37:g.68882498C>A	ENSP00000303775:p.Phe324Leu		68736002	NM_138964	A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624569	0.66901	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.71222	-0.55;-0.55	4.68	0.859	0.19036	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	M	0.66506	2.035	0.53688	D	0.999975	D	0.56287	0.975	P	0.62184	0.899	T	0.75286	-0.3371	10	0.72032	D	0.01	.	8.6291	0.33908	0.0:0.6621:0.0:0.3379	.	324	Q8TCW9	PKR1_HUMAN	L	324	ENSP00000303775:F324L;ENSP00000377874:F324L	ENSP00000303775:F324L	F	+	3	2	PROKR1	68736002	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	1.004000	0.29822	0.142000	0.18901	0.655000	0.94253	TTC		0.532	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2		
C2orf42	54980	broad.mit.edu	37	2	70409104	70409104	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:70409104G>T	ENST00000264434.2	-	3	393	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.S5Y	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	5								p.S5Y(1)		endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AGTCCTCAGAGAATTTGGTTC	0.413																																					p.S5Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14A	2						.						24.0	24.0	24.0					2																	70409104		2203	4300	6503	70262608	SO:0001583	missense	54980	exon3			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.14C>A	2.37:g.70409104G>T	ENSP00000264434:p.Ser5Tyr		70262608	NM_017880	D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	g	19.68	3.873446	0.72180	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804;ENST00000417865;ENST00000419381;ENST00000457952;ENST00000428010;ENST00000425268;ENST00000428751;ENST00000417203	T;T	0.49720	0.77;0.77	5.07	5.07	0.68467	.	0.268041	0.38720	N	0.001598	T	0.55000	0.1893	L	0.44542	1.39	0.41131	D	0.985888	D	0.54207	0.965	P	0.53649	0.731	T	0.59129	-0.7512	10	0.87932	D	0	-5.8203	17.2597	0.87066	0.0:0.0:1.0:0.0	.	5	Q9NWW7	CB042_HUMAN	Y	5	ENSP00000264434:S5Y;ENSP00000404515:S5Y	ENSP00000264434:S5Y	S	-	2	0	C2orf42	70262608	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.370000	0.73114	2.637000	0.89404	0.574000	0.79327	TCT		0.413	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880	
ZNF638	27332	broad.mit.edu	37	2	71592753	71592753	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:71592753C>T	ENST00000409544.1	+	6	2542	c.1912C>T	c.(1912-1914)Cgt>Tgt	p.R638C	ZNF638_ENST00000355812.3_Missense_Mutation_p.R638C|ZNF638_ENST00000377802.2_Missense_Mutation_p.R638C|ZNF638_ENST00000264447.4_Missense_Mutation_p.R638C|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	638					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.R638C(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						ACATTCTATTCGTTGTAAATC	0.363																																					p.R638C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1912T	2						.						71.0	70.0	71.0					2																	71592753		2203	4300	6503	71446261	SO:0001583	missense	27332	exon6			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.1912C>T	2.37:g.71592753C>T	ENSP00000386433:p.Arg638Cys		71446261	NM_014497	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282526	0.59867	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.73258	-0.14;-0.73;0.43;-0.13;1.44;1.44	5.17	5.17	0.71159	.	0.177641	0.35585	N	0.003101	T	0.72550	0.3474	L	0.29908	0.895	0.41880	D	0.990317	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.998;0.999;0.999	P;P;P;P;P;P	0.59703	0.732;0.862;0.809;0.731;0.791;0.809	T	0.74657	-0.3592	10	0.56958	D	0.05	-4.3213	14.0291	0.64604	0.0:1.0:0.0:0.0	.	638;744;638;638;638;638	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	C	638;744;217;638;638;638;638	ENSP00000386669:R638C;ENSP00000438189:R744C;ENSP00000348066:R638C;ENSP00000367033:R638C;ENSP00000264447:R638C;ENSP00000386433:R638C	ENSP00000264447:R638C	R	+	1	0	ZNF638	71446261	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.256000	0.51492	2.691000	0.91804	0.563000	0.77884	CGT		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
EMX1	2016	broad.mit.edu	37	2	73161063	73161063	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:73161063G>A	ENST00000258106.6	+	3	1231	c.853G>A	c.(853-855)Gat>Aat	p.D285N	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	252					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D285N(1)		cervix(1)|large_intestine(2)|lung(3)	6						GGAGGACATCGATGTCACCTC	0.622																																					p.D285N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853A	2						.						61.0	70.0	67.0					2																	73161063		2132	4240	6372	73014571	SO:0001583	missense	2016	exon3			X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.853G>A	2.37:g.73161063G>A	ENSP00000258106:p.Asp285Asn		73014571	NM_004097	Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	G	33	5.199590	0.94997	.	.	ENSG00000135638	ENST00000258106	D	0.94417	-3.42	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.96870	0.8978	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96958	0.9699	10	0.59425	D	0.04	-15.1927	16.7907	0.85589	0.0:0.0:1.0:0.0	.	252	Q04741	EMX1_HUMAN	N	285	ENSP00000258106:D285N	ENSP00000258106:D285N	D	+	1	0	EMX1	73014571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.639000	0.89480	0.491000	0.48974	GAT		0.622	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3		
ALMS1	7840	broad.mit.edu	37	2	73717163	73717163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:73717163G>T	ENST00000264448.6	+	10	8185	c.8074G>T	c.(8074-8076)Gaa>Taa	p.E2692*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2650*|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2692					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.E2692*(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						GCCACCTAAAGAAGTGGATTT	0.403																																					p.E2692X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8074T	2						.						167.0	156.0	160.0					2																	73717163		1865	4097	5962	73570671	SO:0001587	stop_gained	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.8074G>T	2.37:g.73717163G>T	ENSP00000264448:p.Glu2692*		73570671	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	38	6.737623	0.97801	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	.	.	.	4.1	3.22	0.36961	.	0.279917	0.25906	N	0.027528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	10.9785	0.47480	0.0983:0.0:0.9017:0.0	.	.	.	.	X	2650;2692	.	ENSP00000264448:E2692X	E	+	1	0	ALMS1	73570671	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	2.601000	0.46249	0.691000	0.31592	-1.151000	0.01829	GAA		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
RTKN	6242	broad.mit.edu	37	2	74656988	74656988	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:74656988C>T	ENST00000233330.6	-	6	889	c.572G>A	c.(571-573)aGc>aAc	p.S191N	RTKN_ENST00000272430.5_Missense_Mutation_p.S241N|RTKN_ENST00000484453.1_5'Flank|RTKN_ENST00000305557.5_Missense_Mutation_p.S228N	NM_001015056.1	NP_001015056.1			rhotekin									p.S228N(1)|p.S241N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GATGGGACTGCTCCCTGAACC	0.637																																					p.S191N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G572A	2						.						42.0	42.0	42.0					2																	74656988		2203	4300	6503	74510496	SO:0001583	missense	6242	exon6			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.572G>A	2.37:g.74656988C>T	ENSP00000233330:p.Ser191Asn		74510496	NM_001015056		Missense_Mutation	SNP	ENST00000233330.6	37	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890881	0.33348	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.32023	1.47;1.48;1.48	4.77	2.89	0.33648	.	0.489958	0.25186	N	0.032495	T	0.14527	0.0351	N	0.11427	0.14	0.32663	N	0.517824	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.13953	-1.0490	10	0.23302	T	0.38	.	8.7383	0.34541	0.0:0.8037:0.0:0.1963	.	241;228	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	N	228;241;191	ENSP00000305298:S228N;ENSP00000272430:S241N;ENSP00000233330:S191N	ENSP00000233330:S191N	S	-	2	0	RTKN	74510496	1.000000	0.71417	0.980000	0.43619	0.929000	0.56500	2.490000	0.45294	1.206000	0.43276	0.561000	0.74099	AGC		0.637	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055	
DQX1	165545	broad.mit.edu	37	2	74746692	74746692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:74746692G>T	ENST00000404568.3	-	10	2016	c.1797C>A	c.(1795-1797)taC>taA	p.Y599*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.Y599*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	599						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.Y481*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCTTGAGAAAGTATCCTGACA	0.478																																					p.Y599X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1797A	2						.						127.0	131.0	130.0					2																	74746692		2203	4300	6503	74600200	SO:0001587	stop_gained	165545	exon10			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1797C>A	2.37:g.74746692G>T	ENSP00000384621:p.Tyr599*		74600200	NM_133637	Q6B017|Q8NAM8	Nonsense_Mutation	SNP	ENST00000404568.3	37	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	37	6.306376	0.97458	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	5.55	4.66	0.58398	.	0.182364	0.37219	N	0.002181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-23.0667	13.3494	0.60593	0.0:0.0:0.8409:0.1591	.	.	.	.	X	599	.	ENSP00000377523:Y599X	Y	-	3	2	DQX1	74600200	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.308000	0.59129	1.294000	0.44707	0.561000	0.74099	TAC		0.478	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637	
SEMA4F	10505	broad.mit.edu	37	2	74883717	74883717	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:74883717C>A	ENST00000357877.2	+	2	351	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	SEMA4F_ENST00000339773.5_Missense_Mutation_p.L68I	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	68	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.L68I(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTACTCTGTTCTCCTTGTGGA	0.562																																					p.L68I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202A	2						.						134.0	120.0	125.0					2																	74883717		2203	4300	6503	74737225	SO:0001583	missense	10505	exon2			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.202C>A	2.37:g.74883717C>A	ENSP00000350547:p.Leu68Ile		74737225	NM_004263	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355738	0.82243	.	.	ENSG00000135622	ENST00000357877;ENST00000339773;ENST00000434486;ENST00000453930	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	4.9	4.9	0.64082	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.351137	0.26193	N	0.025799	T	0.34337	0.0894	M	0.73753	2.245	0.24729	N	0.993109	P;P;D;D	0.67145	0.905;0.811;0.996;0.992	B;B;D;D	0.75484	0.427;0.386;0.986;0.954	T	0.14337	-1.0476	10	0.23302	T	0.38	.	13.5155	0.61539	0.0:1.0:0.0:0.0	.	68;68;68;68	B7Z931;C9K0A1;O95754-2;O95754	.;.;.;SEM4F_HUMAN	I	68	ENSP00000350547:L68I;ENSP00000342675:L68I;ENSP00000407698:L68I;ENSP00000409141:L68I	ENSP00000342675:L68I	L	+	1	0	SEMA4F	74737225	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.347000	0.52200	2.568000	0.86640	0.650000	0.86243	CTC		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	
EVA1A	84141	broad.mit.edu	37	2	75720574	75720574	+	Missense_Mutation	SNP	C	C	T	rs148155576	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:75720574C>T	ENST00000233712.1	-	4	684	c.247G>A	c.(247-249)Gac>Aac	p.D83N	EVA1A_ENST00000410071.1_Missense_Mutation_p.D83N|EVA1A_ENST00000410113.1_Missense_Mutation_p.D83N|EVA1A_ENST00000410010.1_Missense_Mutation_p.D71N|EVA1A_ENST00000393913.3_Missense_Mutation_p.D83N|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	83					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.D83N(2)									TCCTCGCTGTCGCTGCTGTCG	0.597																																					p.D83N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G247A	2						.						61.0	55.0	57.0					2																	75720574		2203	4300	6503	75574082	SO:0001583	missense	84141	exon4			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.247G>A	2.37:g.75720574C>T	ENSP00000233712:p.Asp83Asn		75574082	NM_032181	D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350630	0.95830	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.05	5.05	0.67936	.	0.241744	0.56097	D	0.000034	T	0.68348	0.2991	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.70182	-0.4942	10	0.48119	T	0.1	0.2849	16.7001	0.85346	0.0:1.0:0.0:0.0	.	83	Q9H8M9	F176A_HUMAN	N	83;83;83;71;83;83;83	ENSP00000377490:D83N;ENSP00000233712:D83N;ENSP00000386435:D83N;ENSP00000386835:D71N;ENSP00000386930:D83N;ENSP00000398249:D83N;ENSP00000388105:D83N	ENSP00000233712:D83N	D	-	1	0	FAM176A	75574082	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.010000	0.70753	2.717000	0.92951	0.650000	0.86243	GAC		0.597	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
CTNNA2	1496	broad.mit.edu	37	2	80085150	80085150	+	Missense_Mutation	SNP	C	C	T	rs574924497		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:80085150C>T	ENST00000402739.4	+	3	315	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R138W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R104W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R104W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R104W|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R104W	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	104					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.R104W(2)		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						TGAGACGATGCGGATCGCCTC	0.562																																					p.R104W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C310T	2						.						93.0	90.0	91.0					2																	80085150		2051	4187	6238	79938658	SO:0001583	missense	1496	exon4				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.310C>T	2.37:g.80085150C>T	ENSP00000384638:p.Arg104Trp		79938658	NM_004389	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	18.60	3.658494	0.67586	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.67	3.69	0.42338	.	0.065224	0.64402	D	0.000013	T	0.50871	0.1641	L	0.47716	1.5	0.53005	D	0.999969	D;D;D	0.76494	0.999;0.997;0.998	D;P;P	0.66979	0.948;0.764;0.877	T	0.46789	-0.9166	10	0.44086	T	0.13	.	15.1718	0.72878	0.447:0.553:0.0:0.0	.	104;104;104	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	W	104;104;104;138;104;104;104	ENSP00000418191:R104W;ENSP00000419295:R104W;ENSP00000387073:R104W;ENSP00000355398:R138W;ENSP00000384638:R104W;ENSP00000444675:R104W;ENSP00000441705:R104W	ENSP00000355398:R138W	R	+	1	2	CTNNA2	79938658	1.000000	0.71417	0.998000	0.56505	0.714000	0.41099	1.304000	0.33482	0.693000	0.31634	-0.181000	0.13052	CGG		0.562	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
DNAH6	1768	broad.mit.edu	37	2	84804497	84804497	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:84804497G>T	ENST00000237449.6	+	12	2049	c.2041G>T	c.(2041-2043)Gaa>Taa	p.E681*	DNAH6_ENST00000389394.3_Nonsense_Mutation_p.E681*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.E681*			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	681	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.E681*(1)|p.E260*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GCTTCTAAGAGAAAAATTAAT	0.348																																					p.E681X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2041T	2						.						61.0	56.0	58.0					2																	84804497		2203	4300	6503	84658008	SO:0001587	stop_gained	1768	exon13			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2041G>T	2.37:g.84804497G>T	ENSP00000237449:p.Glu681*		84658008	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Nonsense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	35	5.476767	0.96291	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	.	.	.	5.48	3.58	0.41010	.	0.116109	0.38663	N	0.001611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	9.898	0.41331	0.0783:0.1416:0.7801:0.0	.	.	.	.	X	681	.	ENSP00000237449:E681X	E	+	1	0	DNAH6	84658008	1.000000	0.71417	0.980000	0.43619	0.474000	0.32979	2.659000	0.46741	2.584000	0.87258	0.561000	0.74099	GAA		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
IMMT	10989	broad.mit.edu	37	2	86406562	86406562	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:86406562C>A	ENST00000410111.3	-	3	690	c.303G>T	c.(301-303)aaG>aaT	p.K101N	IMMT_ENST00000254636.5_Missense_Mutation_p.K14N|IMMT_ENST00000449247.2_Missense_Mutation_p.K101N|IMMT_ENST00000442664.2_Missense_Mutation_p.K101N|IMMT_ENST00000409051.2_Missense_Mutation_p.K101N	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	101					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.K101N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTACCGATTTCTTTGGCAATG	0.343																																					p.K101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G303T	2						.						43.0	41.0	41.0					2																	86406562		1826	4090	5916	86260073	SO:0001583	missense	10989	exon3			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.303G>T	2.37:g.86406562C>A	ENSP00000387262:p.Lys101Asn		86260073	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214724	0.39102	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T;T	0.55413	0.52;1.07;1.18;1.18;1.12	4.97	4.09	0.47781	.	0.222920	0.46145	D	0.000313	T	0.64080	0.2566	L	0.43152	1.355	0.80722	D	1	P;D;P;D;D;P;P;P;P	0.89917	0.481;1.0;0.537;1.0;1.0;0.635;0.481;0.635;0.537	B;D;P;D;D;B;B;B;P	0.97110	0.347;0.999;0.479;0.999;1.0;0.347;0.347;0.347;0.479	T	0.65315	-0.6198	10	0.56958	D	0.05	-16.9329	13.3115	0.60382	0.0:0.9231:0.0:0.0769	.	101;101;101;101;101;101;101;101;101	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	N	14;101;101;101;101;101;101;101;101	ENSP00000254636:K14N;ENSP00000396899:K101N;ENSP00000387262:K101N;ENSP00000407788:K101N;ENSP00000387227:K101N	ENSP00000254636:K14N	K	-	3	2	IMMT	86260073	1.000000	0.71417	0.999000	0.59377	0.072000	0.16883	3.609000	0.54117	1.090000	0.41315	-0.140000	0.14226	AAG		0.343	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
ZNF514	84874	broad.mit.edu	37	2	95815475	95815475	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:95815475C>A	ENST00000295208.2	-	5	1217	c.755G>T	c.(754-756)aGa>aTa	p.R252I	ZNF514_ENST00000411425.1_Missense_Mutation_p.R252I|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	252					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.R252I(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						AGTATGAGTTCTTTGATGTTT	0.453																																					p.R252I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755T	2						.						107.0	114.0	112.0					2																	95815475		2203	4300	6503	95179202	SO:0001583	missense	84874	exon5			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.755G>T	2.37:g.95815475C>A	ENSP00000295208:p.Arg252Ile		95179202	NM_032788	Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	CCDS2011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.92|18.92	3.726635|3.726635	0.69074|0.69074	.|.	.|.	ENSG00000144026|ENSG00000144026	ENST00000542127|ENST00000295208;ENST00000411425	.|T;T	.|0.02446	.|4.29;4.29	3.18|3.18	3.18|3.18	0.36537|0.36537	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.08935	.|0.0221	L|L	0.53561|0.53561	1.675|1.675	0.46203|0.46203	D|D	0.998921|0.998921	.|D;P	.|0.63046	.|0.992;0.544	.|P;B	.|0.60789	.|0.879;0.125	.|T	.|0.16070	.|-1.0415	.|9	.|0.44086	.|T	.|0.13	.|.	12.6059|12.6059	0.56523|0.56523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|252;71	.|Q96K75;Q658L7	.|ZN514_HUMAN;.	.|I	-1|252	.|ENSP00000295208:R252I;ENSP00000405509:R252I	.|ENSP00000295208:R252I	.|R	-|-	.|2	.|0	ZNF514|ZNF514	95179202|95179202	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.782000|0.782000	0.26788|0.26788	2.065000|2.065000	0.61736|0.61736	0.655000|0.655000	0.94253|0.94253	.|AGA		0.453	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788	
ANKRD36B	57730	broad.mit.edu	37	2	98164053	98164053	+	RNA	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:98164053C>A	ENST00000443455.1	-	0	1635							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		AAAAGAGAATCTTTCTCGTCT	0.294																																					p.D509Y												.	.	0			c.G1525T	2						.																																			97530485			57730	exon22			AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98164053C>A			97530485	NM_025190	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37																																																																																					0.294	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190	
TMEM131	23505	broad.mit.edu	37	2	98431766	98431766	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:98431766C>T	ENST00000186436.5	-	13	1416	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	TMEM131_ENST00000425805.2_Missense_Mutation_p.R311Q	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	396						integral component of membrane (GO:0016021)		p.S283S(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						TTTTTGCCTTCGATGCTGAAA	0.284																																					p.S396S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1188A	2						.						81.0	75.0	77.0					2																	98431766		1788	4056	5844	97798198	SO:0001819	synonymous_variant	23505	exon13			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.1188G>A	2.37:g.98431766C>T			97798198	NM_015348		Silent	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519965	0.44866	.	.	ENSG00000075568	ENST00000425805	.	.	.	5.86	0.658	0.17855	.	.	.	.	.	T	0.39384	0.1076	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.36986	-0.9725	5	0.87932	D	0	11.8046	6.0132	0.19588	0.0:0.1953:0.1382:0.6665	.	.	.	.	Q	311	.	ENSP00000401670:R311Q	R	-	2	0	TMEM131	97798198	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	1.341000	0.33907	-0.038000	0.13624	-0.247000	0.11927	CGA		0.284	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	
LIPT1	51601	broad.mit.edu	37	2	99778719	99778719	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:99778719G>T	ENST00000393473.2	+	3	523	c.299G>T	c.(298-300)aGa>aTa	p.R100I	LIPT1_ENST00000393477.3_Missense_Mutation_p.R100I|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.R100I|LIPT1_ENST00000393471.2_Missense_Mutation_p.R100I|LIPT1_ENST00000340066.1_Missense_Mutation_p.R100I	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	100	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.R100I(1)		large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GCTCGGAGAAGAAGTGGAGGA	0.358																																					p.R100I	GBM(84;665 1268 21657 25485 30647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299T	2						.						61.0	58.0	59.0					2																	99778719		2203	4300	6503	99145151	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.299G>T	2.37:g.99778719G>T	ENSP00000377115:p.Arg100Ile		99145151	NM_145197	Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144768	0.57044	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142	D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	4.91	-0.655	0.11439	Biotin/lipoate A/B protein ligase (1);	0.293151	0.36374	N	0.002628	D	0.85831	0.5788	L	0.38692	1.165	0.80722	D	1	P	0.47545	0.897	B	0.42827	0.399	T	0.77579	-0.2535	10	0.21540	T	0.41	-15.922	4.6603	0.12639	0.3548:0.0:0.5062:0.139	.	100	Q9Y234	LIPT_HUMAN	I	100	ENSP00000377115:R100I;ENSP00000377118:R100I;ENSP00000377116:R100I;ENSP00000342071:R100I;ENSP00000377114:R100I;ENSP00000387387:R100I;ENSP00000393591:R100I;ENSP00000398168:R100I	ENSP00000342071:R100I	R	+	2	0	LIPT1	99145151	1.000000	0.71417	0.814000	0.32528	0.994000	0.84299	2.743000	0.47442	-0.332000	0.08489	-0.150000	0.13652	AGA		0.358	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929	
REV1	51455	broad.mit.edu	37	2	100065819	100065819	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:100065819C>T	ENST00000258428.3	-	4	557	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	REV1_ENST00000393445.3_Missense_Mutation_p.R110Q|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	110	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				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.R110Q(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						CCATTCTGGTCGAATTACTTT	0.244								Direct reversal of damage																													p.R110Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	2						.						78.0	81.0	80.0					2																	100065819		2203	4300	6503	99432251	SO:0001583	missense	51455	exon4			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.329G>A	2.37:g.100065819C>T	ENSP00000258428:p.Arg110Gln		99432251	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243362	0.79912	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.79247	-1.25;-1.25	6.06	6.06	0.98353	BRCT (4);	0.054701	0.64402	D	0.000001	D	0.86151	0.5864	L	0.58669	1.825	0.51012	D	0.999903	D;P;P	0.76494	0.999;0.844;0.635	D;B;B	0.64042	0.921;0.326;0.353	D	0.84632	0.0690	10	0.49607	T	0.09	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	89;110;110	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	Q	110	ENSP00000377091:R110Q;ENSP00000258428:R110Q	ENSP00000258428:R110Q	R	-	2	0	REV1	99432251	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.695000	0.68279	2.880000	0.98712	0.650000	0.86243	CGA		0.244	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
RBM44	375316	broad.mit.edu	37	2	238725832	238725832	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr2:238725832G>T	ENST00000409864.1	+	3	527	c.273G>T	c.(271-273)gaG>gaT	p.E91D	RBM44_ENST00000316997.4_Missense_Mutation_p.E91D|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	90						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.E91D(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTAACACAGAGAGTACTCAGT	0.328																																					p.E91D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G273T	2						.						60.0	60.0	60.0					2																	238725832		1837	4074	5911	238390571	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.273G>T	2.37:g.238725832G>T	ENSP00000386727:p.Glu91Asp		238390571	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048137	0.19827	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.28895	1.59;1.59	5.62	-1.06	0.10002	.	1.073890	0.07176	N	0.853264	T	0.20129	0.0484	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30119	-0.9989	10	0.25106	T	0.35	-0.5191	5.7717	0.18257	0.2461:0.3644:0.3895:0.0	.	90	Q6ZP01	RBM44_HUMAN	D	91	ENSP00000321179:E91D;ENSP00000386727:E91D	ENSP00000321179:E91D	E	+	3	2	RBM44	238390571	0.000000	0.05858	0.000000	0.03702	0.799000	0.45148	-0.214000	0.09292	0.060000	0.16281	0.563000	0.77884	GAG		0.328	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
COL15A1	1306	broad.mit.edu	37	9	101832135	101832135	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:101832135C>T	ENST00000375001.3	+	42	4557	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1378	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.I1378I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTATGTATCGAAAACAGTT	0.448																																					p.I1378I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4134T	9						.						89.0	79.0	82.0					9																	101832135		2203	4300	6503	100871956	SO:0001819	synonymous_variant	1306	exon42			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4134C>T	9.37:g.101832135C>T			100871956	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.448	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
TGFBR1	7046	broad.mit.edu	37	9	101910029	101910029	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:101910029T>G	ENST00000374994.4	+	8	1466	c.1349T>G	c.(1348-1350)tTa>tGa	p.L450*	TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.L454*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.L381*|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.L373*	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L450*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAACAGAAGTTAAGGCCAAAT	0.358																																					p.L450X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1349G	9						.						105.0	104.0	104.0					9																	101910029		2203	4300	6503	100949850	SO:0001587	stop_gained	7046	exon8				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1349T>G	9.37:g.101910029T>G	ENSP00000364133:p.Leu450*		100949850	NM_004612	Q6IR47|Q706C0|Q706C1	Nonsense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	T	38	6.696129	0.97768	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3665	0.74526	0.0:0.0:0.0:1.0	.	.	.	.	X	450;412;373;454;381	.	ENSP00000364129:L373X	L	+	2	0	TGFBR1	100949850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.139000	0.71728	2.258000	0.74832	0.533000	0.62120	TTA		0.358	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
TMEFF1	8577	broad.mit.edu	37	9	103261135	103261135	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:103261135G>T	ENST00000374879.4	+	2	717	c.285G>T	c.(283-285)ttG>ttT	p.L95F	MSANTD3-TMEFF1_ENST00000502978.1_Nonsense_Mutation_p.E59*|TMEFF1_ENST00000334943.6_Missense_Mutation_p.L56F	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	95	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L95F(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GAGATGGTTTGAAATGTGCAT	0.328																																					p.L95F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G285T	9						.						128.0	125.0	126.0					9																	103261135		2203	4300	6503	102300956	SO:0001583	missense	8577	exon2			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.285G>T	9.37:g.103261135G>T	ENSP00000364013:p.Leu95Phe		102300956	NM_003692	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.330008|4.330008	0.81690|0.81690	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.75589	.|-0.95;-0.95	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Epidermal growth factor-like, type 3 (1);	.|0.151191	.|0.44285	.|D	.|0.000464	.|T	.|0.75752	.|0.3892	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45011	.|0.848;0.739	.|P;B	.|0.50352	.|0.638;0.407	.|T	.|0.68697	.|-0.5340	.|10	.|0.09843	.|T	.|0.71	-34.8311|-34.8311	17.7937|17.7937	0.88562|0.88562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;56	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	X|F	59|56;95	.|ENSP00000334447:L56F;ENSP00000364013:L95F	.|ENSP00000334447:L56F	E|L	+|+	1|3	0|2	C9orf30-TMEFF1|TMEFF1	102300956|102300956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.158000|5.158000	0.64917|0.64917	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAA|TTG		0.328	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	
SMC2	10592	broad.mit.edu	37	9	106864280	106864280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:106864280G>T	ENST00000286398.7	+	8	964	c.676G>T	c.(676-678)Gaa>Taa	p.E226*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.E226*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E226*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E226*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	226					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.E226*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGTAATGAGAGAAATAGAACA	0.299																																					p.E226X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G676T	9						.						87.0	97.0	94.0					9																	106864280		2198	4298	6496	105904101	SO:0001587	stop_gained	10592	exon8			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.676G>T	9.37:g.106864280G>T	ENSP00000286398:p.Glu226*		105904101	NM_006444	Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	ENST00000286398.7	37	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	40	7.975024	0.98591	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-26.9392	19.1404	0.93444	0.0:0.0:1.0:0.0	.	.	.	.	X	226;81;226;226;226;226	.	ENSP00000286398:E226X	E	+	1	0	SMC2	105904101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.785000	0.85724	2.937000	0.99478	0.650000	0.86243	GAA		0.299	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		
OR13F1	138805	broad.mit.edu	37	9	107267243	107267243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:107267243C>T	ENST00000334726.2	+	1	789	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234*(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGGAAGGTCGAAGTAAAGC	0.488																																					p.R234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C700T	9						.						206.0	186.0	193.0					9																	107267243		2203	4300	6503	106307064	SO:0001587	stop_gained	138805	exon1				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.700C>T	9.37:g.107267243C>T	ENSP00000334452:p.Arg234*		106307064	NM_001004485	Q6IF50	Nonsense_Mutation	SNP	ENST00000334726.2	37	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957569	0.34565	.	.	ENSG00000186881	ENST00000334726	.	.	.	4.3	1.24	0.21308	.	0.340853	0.20123	N	0.098743	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8154	0.23826	0.3234:0.5879:0.0:0.0887	.	.	.	.	X	234	.	ENSP00000334452:R234X	R	+	1	2	OR13F1	106307064	0.000000	0.05858	0.022000	0.16811	0.149000	0.21700	-2.350000	0.01092	0.273000	0.22049	0.655000	0.94253	CGA		0.488	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1		
LPAR1	1902	broad.mit.edu	37	9	113704123	113704123	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:113704123C>T	ENST00000374431.3	-	4	754	c.371G>A	c.(370-372)cGt>cAt	p.R124H	LPAR1_ENST00000358883.4_Missense_Mutation_p.R124H|LPAR1_ENST00000538760.1_Missense_Mutation_p.R125H|LPAR1_ENST00000374430.2_Missense_Mutation_p.R124H|LPAR1_ENST00000541779.1_Missense_Mutation_p.R125H	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	124					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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 dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.R124H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GAGGCCCTGACGAAGGAGCCA	0.527																																					p.R124H	NSCLC(115;661 2323 9836 34256)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	9						.						140.0	137.0	138.0					9																	113704123		2203	4300	6503	112743944	SO:0001583	missense	1902	exon3			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.371G>A	9.37:g.113704123C>T	ENSP00000363553:p.Arg124His		112743944	NM_001401	B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373723	0.82573	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	5.53	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.050017	0.85682	N	0.000000	T	0.65386	0.2686	M	0.91249	3.19	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66602	0.945;0.945;0.945	T	0.74414	-0.3673	10	0.87932	D	0	.	13.4093	0.60933	0.0:0.9247:0.0:0.0753	.	125;125;124	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	H	124;125;124;124;106;125;124	ENSP00000363553:R124H;ENSP00000445697:R125H;ENSP00000363552:R124H;ENSP00000351755:R124H;ENSP00000440201:R125H;ENSP00000401810:R124H	ENSP00000351755:R124H	R	-	2	0	LPAR1	112743944	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.786000	0.85741	1.357000	0.45904	0.655000	0.94253	CGT		0.527	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
OR2K2	26248	broad.mit.edu	37	9	114089768	114089768	+	Missense_Mutation	SNP	G	G	T	rs545492183		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:114089768G>T	ENST00000374428.1	-	1	1032	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	OR2K2_ENST00000302681.1_Missense_Mutation_p.L316I			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	345						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L316F(1)|p.L345I(1)|p.L316I(1)|p.L345F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CCCAATCAGAGATGTTCGTGT	0.408																																					p.L316I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C946A	9						.						102.0	87.0	92.0					9																	114089768		2203	4300	6503	113129589	SO:0001583	missense	26248	exon1			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.1033C>A	9.37:g.114089768G>T	ENSP00000363550:p.Leu345Ile		113129589	NM_205859	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37		.	.	.	.	.	.	.	.	.	.	G	5.683	0.310504	0.10733	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.10382	2.88;2.96	4.84	-2.75	0.05914	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39542	-0.9609	9	0.62326	D	0.03	.	0.993	0.01461	0.3298:0.2714:0.2604:0.1385	.	345	Q8NGT1	OR2K2_HUMAN	I	316;345	ENSP00000305055:L316I;ENSP00000363550:L345I	ENSP00000305055:L316I	L	-	1	0	OR2K2	113129589	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.654000	0.05354	-0.410000	0.07542	-0.176000	0.13171	CTC		0.408	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
DNAJC25	548645	broad.mit.edu	37	9	114409504	114409504	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:114409504A>C	ENST00000313525.3	+	2	510	c.454A>C	c.(454-456)Att>Ctt	p.I152L	DNAJC25_ENST00000556107.1_Intron|DNAJC25-GNG10_ENST00000374294.3_Intron	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	152						integral component of membrane (GO:0016021)		p.I152L(1)		kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						TAGAGTAGTGATTTTGGTCAG	0.413																																					p.I152L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A454C	9						.						359.0	362.0	361.0					9																	114409504		2121	4243	6364	113449325	SO:0001583	missense	548645	exon2				CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.454A>C	9.37:g.114409504A>C	ENSP00000320650:p.Ile152Leu		113449325	NM_001015882	Q5QTD8|Q96BN9	Missense_Mutation	SNP	ENST00000313525.3	37	CCDS43862.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318150	0.40996	.	.	ENSG00000059769	ENST00000313525	T	0.41758	0.99	5.04	3.91	0.45181	.	0.048016	0.85682	D	0.000000	T	0.32941	0.0846	L	0.48260	1.515	0.80722	D	1	P	0.38788	0.647	B	0.35470	0.203	T	0.04915	-1.0918	10	0.32370	T	0.25	-13.0338	10.3061	0.43680	0.9226:0.0:0.0774:0.0	.	152	Q9H1X3	DJC25_HUMAN	L	152	ENSP00000320650:I152L	ENSP00000320650:I152L	I	+	1	0	DNAJC25	113449325	1.000000	0.71417	0.931000	0.37212	0.908000	0.53690	3.533000	0.53561	0.775000	0.33450	0.460000	0.39030	ATT		0.413	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882	
C9orf84	158401	broad.mit.edu	37	9	114464497	114464497	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:114464497C>T	ENST00000318737.4	-	21	2913	c.2785G>A	c.(2785-2787)Gaa>Aaa	p.E929K	C9orf84_ENST00000394777.4_Missense_Mutation_p.E855K|C9orf84_ENST00000394779.3_Missense_Mutation_p.E890K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E929K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	929										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						TAATTCAATTCTTCTAGATCC	0.264																																					p.E929K												.	.	0			c.G2785A	9						.						44.0	46.0	45.0					9																	114464497		2199	4294	6493	113504318	SO:0001583	missense	158401	exon21			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.2785G>A	9.37:g.114464497C>T	ENSP00000322108:p.Glu929Lys		113504318	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421741	0.83559	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05447	3.44;3.48;3.44;3.44	5.27	5.27	0.74061	.	0.000000	0.53938	D	0.000046	T	0.17450	0.0419	L	0.34521	1.04	0.48185	D	0.999601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.01532	-1.1331	10	0.44086	T	0.13	-17.8745	18.4673	0.90760	0.0:1.0:0.0:0.0	.	855;929;890	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	K	890;855;543;929;929	ENSP00000378259:E890K;ENSP00000378257:E855K;ENSP00000363405:E929K;ENSP00000322108:E929K	ENSP00000322108:E929K	E	-	1	0	C9orf84	113504318	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	6.343000	0.72986	2.441000	0.82636	0.591000	0.81541	GAA		0.264	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
INIP	58493	broad.mit.edu	37	9	115451826	115451826	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:115451826T>C	ENST00000374242.4	-	4	505	c.200A>G	c.(199-201)cAa>cGa	p.Q67R	INIP_ENST00000374238.1_Intron|INIP_ENST00000497712.2_5'UTR|INIP_ENST00000374236.1_Missense_Mutation_p.Q37R|INIP_ENST00000374234.1_Intron	NM_021218.1	NP_067041.1	Q9NRY2	SOSSC_HUMAN	INTS3 and NABP interacting protein	67					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)		p.Q67R(1)									TGCCTTCTGTTGGGCTGCAAT	0.478																																					p.Q67R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A200G	9						.						121.0	106.0	111.0					9																	115451826		2203	4300	6503	114491647	SO:0001583	missense	58493	exon4			AF161411	CCDS6785.1	9q32	2012-06-19	2012-06-19	2012-06-19	ENSG00000148153	ENSG00000148153			24994	protein-coding gene	gene with protein product	"""hSSB-interacting protein 1"", ""sensor of single-strand DNA complex subunit C"", ""minute INTS3/hSSB-associated element"""	613273	"""chromosome 9 open reading frame 80"""	C9orf80		11042152	Standard	NM_021218		Approved	HSPC043, hSSBIP1, SOSS-C, MISE	uc004bgg.3	Q9NRY2	OTTHUMG00000020509	ENST00000374242.4:c.200A>G	9.37:g.115451826T>C	ENSP00000363360:p.Gln67Arg		114491647	NM_021218	Q5VWJ7|Q96E04|Q9P090	Missense_Mutation	SNP	ENST00000374242.4	37	CCDS6785.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729093	0.89390	.	.	ENSG00000148153	ENST00000374242;ENST00000374236	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73853	0.3640	M	0.65975	2.015	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.69423	-0.5149	9	0.09084	T	0.74	-16.9616	16.0461	0.80722	0.0:0.0:0.0:1.0	.	67	Q9NRY2	SOSSC_HUMAN	R	67;37	.	ENSP00000363353:Q37R	Q	-	2	0	C9orf80	114491647	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.767000	0.74975	2.326000	0.78906	0.472000	0.43445	CAA		0.478	INIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053692.2	NM_021218	
ZNF883	169834	broad.mit.edu	37	9	115759973	115759973	+	lincRNA	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:115759973A>C	ENST00000427548.1	-	0	1840							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGTGGCAAAAAACTTTCCGAC	0.433																																					p.V189V												.	.	0			c.T567G	9						.						83.0	84.0	84.0					9																	115759973		2172	4288	6460	114799794			169834	exon5			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759973A>C			114799794	NM_001101338		Silent	SNP	ENST00000427548.1	37																																																																																					0.433	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
RGS3	5998	broad.mit.edu	37	9	116224127	116224127	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:116224127G>A	ENST00000374140.2	+	3	430	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	RGS3_ENST00000350696.5_Missense_Mutation_p.R74Q|RGS3_ENST00000317613.6_5'Flank	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	74					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R74Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCCCTGGCGAAGTTGTGAA	0.532																																					p.R74Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G221A	9						.						119.0	120.0	119.0					9																	116224127		2023	4181	6204	115263948	SO:0001583	missense	5998	exon3			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.221G>A	9.37:g.116224127G>A	ENSP00000363255:p.Arg74Gln		115263948	NM_144488	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	A	0.033	-1.324115	0.01309	.	.	ENSG00000138835	ENST00000374140;ENST00000350696	T;T	0.45668	0.89;0.89	3.28	0.894	0.19242	.	1.796160	0.03688	N	0.246668	T	0.20129	0.0484	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19910	-1.0291	10	0.02654	T	1	.	5.828	0.18564	0.6162:0.0:0.3838:0.0	.	74	P49796	RGS3_HUMAN	Q	74	ENSP00000363255:R74Q;ENSP00000259406:R74Q	ENSP00000259406:R74Q	R	+	2	0	RGS3	115263948	0.001000	0.12720	0.004000	0.12327	0.022000	0.10575	0.155000	0.16362	-0.091000	0.12440	-0.516000	0.04426	CGA		0.532	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790	
TNC	3371	broad.mit.edu	37	9	117819606	117819606	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:117819606T>C	ENST00000350763.4	-	15	4816	c.4405A>G	c.(4405-4407)Acc>Gcc	p.T1469A	TNC_ENST00000341037.4_Missense_Mutation_p.T1378A|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.T1105A|TNC_ENST00000535648.1_Missense_Mutation_p.T1105A|TNC_ENST00000542877.1_Missense_Mutation_p.T1105A|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1469	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.T1469A(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATTTCAATGGTAAAGGTCTCG	0.438																																					p.T1469A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4405G	9						.						154.0	165.0	161.0					9																	117819606		2203	4300	6503	116859427	SO:0001583	missense	3371	exon15				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4405A>G	9.37:g.117819606T>C	ENSP00000265131:p.Thr1469Ala		116859427	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.73|15.73	2.918772|2.918772	0.52546|0.52546	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	T;T;T;T;T|.	0.57273|.	0.41;0.41;0.41;0.41;0.41|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.148640|.	0.52532|.	D|.	0.000066|.	T|T	0.64724|0.64724	0.2624|0.2624	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D|.	0.54964|.	0.969|.	D|.	0.64410|.	0.925|.	T|T	0.64529|0.64529	-0.6386|-0.6386	10|5	0.16420|.	T|.	0.52|.	.|.	10.4863|10.4863	0.44724|0.44724	0.0:0.0724:0.0:0.9276|0.0:0.0724:0.0:0.9276	.|.	1469|.	P24821|.	TENA_HUMAN|.	A|C	1105;1105;1469;1378;1105|122	ENSP00000344400:T1105A;ENSP00000438152:T1105A;ENSP00000265131:T1469A;ENSP00000339553:T1378A;ENSP00000442242:T1105A|.	ENSP00000344400:T1105A|.	T|Y	-|-	1|2	0|0	TNC|TNC	116859427|116859427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.834000|1.834000	0.39171|0.39171	2.212000|2.212000	0.71576|0.71576	0.460000|0.460000	0.39030|0.39030	ACC|TAC		0.438	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
TNC	3371	broad.mit.edu	37	9	117840469	117840469	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:117840469G>T	ENST00000350763.4	-	7	2838	c.2427C>A	c.(2425-2427)atC>atA	p.I809I	TNC_ENST00000341037.4_Silent_p.I809I|TNC_ENST00000537320.1_Silent_p.I809I|TNC_ENST00000346706.3_Silent_p.I809I|TNC_ENST00000423613.2_Silent_p.I809I|TNC_ENST00000340094.3_Silent_p.I809I|TNC_ENST00000535648.1_Silent_p.I809I|TNC_ENST00000542877.1_Silent_p.I809I|TNC_ENST00000345230.3_Silent_p.I809I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	809	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.I809I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTTTCACCTCGATCTGGCTGG	0.547																																					p.I809I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2427A	9						.						109.0	106.0	107.0					9																	117840469		2203	4300	6503	116880290	SO:0001819	synonymous_variant	3371	exon7				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2427C>A	9.37:g.117840469G>T			116880290	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.547	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
BRINP1	1620	broad.mit.edu	37	9	122011325	122011325	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:122011325G>A	ENST00000265922.3	-	3	783	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	BRINP1_ENST00000373964.2_Missense_Mutation_p.L108F	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	108	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.L108F(1)									CTCCTGCCAAGCAGGCGGATG	0.562																																					p.L108F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C322T	9						.						127.0	99.0	108.0					9																	122011325		2203	4300	6503	121051146	SO:0001583	missense	1620	exon3			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.322C>T	9.37:g.122011325G>A	ENSP00000265922:p.Leu108Phe		121051146	NM_014618	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685907	0.88639	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.91011	-2.77;-2.77	5.66	5.66	0.87406	Membrane attack complex component/perforin (MACPF) domain (2);	0.061993	0.64402	D	0.000003	D	0.94886	0.8347	M	0.64404	1.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.94751	0.7927	10	0.87932	D	0	-13.8673	20.1076	0.97898	0.0:0.0:1.0:0.0	.	108;108	O60477-2;O60477	.;DBC1_HUMAN	F	108	ENSP00000265922:L108F;ENSP00000363075:L108F	ENSP00000265922:L108F	L	-	1	0	DBC1	121051146	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.976000	0.88070	2.823000	0.97156	0.650000	0.86243	CTT		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
FBXW2	26190	broad.mit.edu	37	9	123550147	123550147	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:123550147C>A	ENST00000608872.1	-	3	577	c.390G>T	c.(388-390)atG>atT	p.M130I	FBXW2_ENST00000340778.5_Missense_Mutation_p.M130I	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	130					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)	p.M130I(1)		ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CCAGTTGCTTCATTCTCAAAA	0.428																																					p.M130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G390T	9						.						105.0	99.0	101.0					9																	123550147		1907	4115	6022	122589968	SO:0001583	missense	26190	exon3			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.390G>T	9.37:g.123550147C>A	ENSP00000476369:p.Met130Ile		122589968	NM_012164	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166367	0.57476	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.80033	0.33;-1.33;0.62	5.7	5.7	0.88788	F-box domain, Skp2-like (1);	0.073186	0.85682	D	0.000000	T	0.75376	0.3841	N	0.24115	0.695	0.80722	D	1	B;P;P	0.35872	0.015;0.525;0.525	B;B;B	0.42214	0.004;0.38;0.38	T	0.73956	-0.3819	10	0.35671	T	0.21	-4.0876	17.3282	0.87255	0.0:1.0:0.0:0.0	.	130;130;130	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	I	130;130;130;1	ENSP00000363036:M130I;ENSP00000341161:M130I;ENSP00000398662:M1I	ENSP00000341161:M130I	M	-	3	0	FBXW2	122589968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.692000	0.91855	0.655000	0.94253	ATG		0.428	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2		
PTGS1	5742	broad.mit.edu	37	9	125148738	125148738	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125148738G>T	ENST00000362012.2	+	9	1028	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	PTGS1_ENST00000223423.4_Missense_Mutation_p.K341N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K316N|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.K232N	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)	341			K -> R (in dbSNP:rs3842799).		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)			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)	AGACCATCAAGATTGTCATCG	0.532																																					p.K341N												.	.	0			c.G1023T	9						.						127.0	130.0	129.0					9																	125148738		2203	4300	6503	124188559	SO:0001583	missense	5742	exon9			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.1023G>T	9.37:g.125148738G>T	ENSP00000354612:p.Lys341Asn		124188559	NM_000962	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850424	0.51270	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.58	2.68	0.31781	.	0.411806	0.28901	N	0.013771	T	0.63307	0.2500	L	0.41906	1.305	0.39694	D	0.971087	B;B;B	0.30406	0.001;0.278;0.022	B;B;B	0.42188	0.032;0.379;0.137	T	0.63400	-0.6646	10	0.49607	T	0.09	-20.1806	10.7172	0.46019	0.2138:0.0:0.7862:0.0	.	316;341;341	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	N	316;341;341;232	ENSP00000437709:K316N;ENSP00000354612:K341N;ENSP00000223423:K341N;ENSP00000362802:K232N	ENSP00000223423:K341N	K	+	3	2	PTGS1	124188559	1.000000	0.71417	0.985000	0.45067	0.638000	0.38207	1.681000	0.37618	0.695000	0.31675	0.563000	0.77884	AAG		0.532	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
OR1J2	26740	broad.mit.edu	37	9	125273880	125273880	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125273880C>A	ENST00000335302.5	+	1	800	c.800C>A	c.(799-801)tCt>tAt	p.S267Y		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S267Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GTAAGCAGTTCTATTGACAAG	0.473																																					p.S267Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C800A	9						.						209.0	187.0	194.0					9																	125273880		2203	4300	6503	124313701	SO:0001583	missense	26740	exon1				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.800C>A	9.37:g.125273880C>A	ENSP00000335575:p.Ser267Tyr		124313701	NM_054107	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043336	0.55003	.	.	ENSG00000197233	ENST00000335302	T	0.00277	8.34	5.14	-2.25	0.06888	GPCR, rhodopsin-like superfamily (1);	0.388195	0.18524	U	0.138666	T	0.00412	0.0013	M	0.89478	3.035	0.09310	N	1	P	0.38167	0.621	P	0.48921	0.595	T	0.40021	-0.9585	10	0.87932	D	0	.	3.5296	0.07771	0.1162:0.5262:0.1143:0.2433	.	267	Q8NGS2	OR1J2_HUMAN	Y	267	ENSP00000335575:S267Y	ENSP00000335575:S267Y	S	+	2	0	OR1J2	124313701	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.688000	0.05150	-0.210000	0.10140	0.632000	0.83419	TCT		0.473	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1		
OR1L8	138881	broad.mit.edu	37	9	125330488	125330488	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125330488T>G	ENST00000304865.2	-	1	350	c.269A>C	c.(268-270)aAg>aCg	p.K90T		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K90T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATGGTCTTCTTTTCTGACAG	0.463																																					p.K90T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A269C	9						.						76.0	78.0	78.0					9																	125330488		2203	4300	6503	124370309	SO:0001583	missense	138881	exon1				CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.269A>C	9.37:g.125330488T>G	ENSP00000306607:p.Lys90Thr		124370309	NM_001004454	A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	T	2.155	-0.393617	0.04899	.	.	ENSG00000171496	ENST00000304865	T	0.01998	4.51	4.39	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.341890	0.20664	U	0.087968	T	0.01222	0.0040	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49409	-0.8943	10	0.22706	T	0.39	-0.0934	7.0489	0.25061	0.0:0.2598:0.0:0.7402	.	90	Q8NGR8	OR1L8_HUMAN	T	90	ENSP00000306607:K90T	ENSP00000306607:K90T	K	-	2	0	OR1L8	124370309	0.000000	0.05858	0.127000	0.21898	0.920000	0.55202	-1.117000	0.03283	0.351000	0.24027	0.369000	0.22263	AAG		0.463	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1		
OR5C1	392391	broad.mit.edu	37	9	125551745	125551745	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125551745C>A	ENST00000373680.2	+	1	596	c.534C>A	c.(532-534)atC>atA	p.I178I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I178I(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCCGGAAGATCAATAGCTTCT	0.572																																					p.I178I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534A	9						.						86.0	78.0	81.0					9																	125551745		2203	4300	6503	124591566	SO:0001819	synonymous_variant	392391	exon1			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.534C>A	9.37:g.125551745C>A			124591566	NM_001001923	B2RN54|B9EGT0|Q96RC4	Silent	SNP	ENST00000373680.2	37	CCDS35131.1																																																																																				0.572	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
OR1K1	392392	broad.mit.edu	37	9	125562897	125562897	+	Missense_Mutation	SNP	C	C	T	rs143974581		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125562897C>T	ENST00000277309.2	+	1	528	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R166C(1)		endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCTCATGGCTCGCTTGTCCTT	0.597																																					p.R166C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C496T	9						.	C	CYS/ARG	0,4406		0,0,2203	161.0	98.0	120.0		496	1.1	0.0	9	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR1K1	NM_080859.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	166/317	125562897	1,13005	2203	4300	6503	124602718	SO:0001583	missense	392392	exon1			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.496C>T	9.37:g.125562897C>T	ENSP00000277309:p.Arg166Cys		124602718	NM_080859	B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868011	0.17250	0.0	1.16E-4	ENSG00000165204	ENST00000277309	T	0.00188	8.59	3.99	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	U	0.001306	T	0.00241	0.0007	M	0.81497	2.545	0.09310	N	1	P	0.43231	0.801	B	0.42798	0.398	T	0.43572	-0.9383	10	0.87932	D	0	.	4.1422	0.10198	0.317:0.5009:0.0:0.1821	.	166	Q8NGR3	OR1K1_HUMAN	C	166	ENSP00000277309:R166C	ENSP00000277309:R166C	R	+	1	0	OR1K1	124602718	0.000000	0.05858	0.019000	0.16419	0.009000	0.06853	-0.182000	0.09726	0.023000	0.15187	-0.244000	0.11960	CGC		0.597	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1		
GPR21	2844	broad.mit.edu	37	9	125797492	125797492	+	Missense_Mutation	SNP	G	G	A	rs200334416		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:125797492G>A	ENST00000373642.1	+	1	687	c.647G>A	c.(646-648)cGc>cAc	p.R216H	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	216					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R216H(2)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AACATCTTCCGCATCTGCCAA	0.537																																					p.R216H												.	.	2	Substitution - Missense(2)	large_intestine(1)|stomach(1)	c.G647A	9						.	G	HIS/ARG,	0,4406		0,0,2203	129.0	121.0	124.0		647,	5.7	1.0	9		124	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron	GPR21,RABGAP1	NM_005294.1,NM_012197.3	29,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,	216/350,	125797492	2,13004	2203	4300	6503	124837313	SO:0001583	missense	2844	exon1			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.647G>A	9.37:g.125797492G>A	ENSP00000362746:p.Arg216His		124837313	NM_005294	B2R8W9|Q6NXU2	Missense_Mutation	SNP	ENST00000373642.1	37	CCDS6849.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262875	0.39995	0.0	2.33E-4	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.39592	1.07	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.087691	0.44902	U	0.000404	T	0.37571	0.1008	L	0.45137	1.4	0.80722	D	1	P	0.40602	0.723	B	0.34093	0.175	T	0.23297	-1.0192	10	0.45353	T	0.12	-10.9871	19.7725	0.96373	0.0:0.0:1.0:0.0	.	216	Q99679	GPR21_HUMAN	H	216	ENSP00000362746:R216H	ENSP00000362746:R216H	R	+	2	0	GPR21	124837313	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.998000	0.70653	2.673000	0.90976	0.467000	0.42956	CGC		0.537	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053965.1	NM_005294	
PPP6C	5537	broad.mit.edu	37	9	127912146	127912146	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:127912146C>T	ENST00000373547.4	-	7	823	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	PPP6C_ENST00000415905.1_Missense_Mutation_p.E220K|PPP6C_ENST00000451402.1_Missense_Mutation_p.E279K|PPP6C_ENST00000373546.3_Missense_Mutation_p.E95K	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	242					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTATAGCCTTCGTGCACTAGT	0.368																																					p.E220K												.	.	0			c.G658A	9						.						111.0	101.0	104.0					9																	127912146		2203	4300	6503	126951967	SO:0001583	missense	5537	exon6			AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.724G>A	9.37:g.127912146C>T	ENSP00000362648:p.Glu242Lys		126951967	NM_001123369	B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477146	0.63849	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.52	5.52	0.82312	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.085122	0.85682	N	0.000000	T	0.71256	0.3318	M	0.90483	3.12	0.80722	D	1	D;B;D	0.64830	0.994;0.239;0.989	P;B;P	0.61940	0.896;0.074;0.599	T	0.77346	-0.2622	10	0.72032	D	0.01	-9.914	13.7126	0.62678	0.0:0.9237:0.0:0.0763	.	220;279;242	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	K	242;279;220;95	ENSP00000362648:E242K;ENSP00000392147:E279K;ENSP00000411744:E220K;ENSP00000362647:E95K	ENSP00000362647:E95K	E	-	1	0	PPP6C	126951967	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	5.741000	0.68638	2.589000	0.87451	0.557000	0.71058	GAA		0.368	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294	
GAPVD1	26130	broad.mit.edu	37	9	128099642	128099642	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:128099642A>G	ENST00000495955.1	+	17	2939	c.2649A>G	c.(2647-2649)gaA>gaG	p.E883E	GAPVD1_ENST00000394083.2_Silent_p.E862E|GAPVD1_ENST00000394105.2_Silent_p.E910E|GAPVD1_ENST00000297933.6_Silent_p.E883E|GAPVD1_ENST00000312123.9_Silent_p.E862E|GAPVD1_ENST00000265956.4_Silent_p.E857E|GAPVD1_ENST00000394104.2_Silent_p.E883E|GAPVD1_ENST00000470056.1_Silent_p.E883E			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	883					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E910E(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ctccagctgaaatggaggcat	0.507																																					p.E910E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2730G	9						.						90.0	87.0	88.0					9																	128099642		2203	4300	6503	127139463	SO:0001819	synonymous_variant	26130	exon16				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2649A>G	9.37:g.128099642A>G			127139463	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.527|7.527	0.657915|0.657915	0.14645|0.14645	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000436712	.|.	.|.	.|.	6.17|6.17	-0.792|-0.792	0.10925|0.10925	.|.	.|.	.|.	.|.	.|.	T|T	0.42381|0.42381	0.1200|0.1200	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26677|0.26677	-1.0096|-1.0096	4|4	.|.	.|.	.|.	.|.	2.577|2.577	0.04808|0.04808	0.2959:0.1086:0.4074:0.1881|0.2959:0.1086:0.4074:0.1881	.|.	.|.	.|.	.|.	R|D	720|720	.|.	.|.	K|N	+|+	2|1	0|0	GAPVD1|GAPVD1	127139463|127139463	0.639000|0.639000	0.27234|0.27234	0.981000|0.981000	0.43875|0.43875	0.980000|0.980000	0.70556|0.70556	0.187000|0.187000	0.16998|0.16998	-0.032000|-0.032000	0.13758|0.13758	0.533000|0.533000	0.62120|0.62120	AAA|AAT		0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
C9orf117	286207	broad.mit.edu	37	9	130474995	130474995	+	Missense_Mutation	SNP	G	G	A	rs551402620		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:130474995G>A	ENST00000373295.2	+	7	1185	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373293.5_Missense_Mutation_p.R31H	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	382								p.R382H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CAGATGCACCGCGATGAAGAG	0.592																																					p.R382H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1145A	9						.						80.0	85.0	83.0					9																	130474995		2187	4277	6464	129514816	SO:0001583	missense	286207	exon7			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.1145G>A	9.37:g.130474995G>A	ENSP00000362392:p.Arg382His		129514816	NM_001012502	A5D8T9	Missense_Mutation	SNP	ENST00000373295.2	37	CCDS43878.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.895054	0.33442	.	.	ENSG00000160401	ENST00000373295;ENST00000373293	T	0.43294	0.95	5.26	4.36	0.52297	.	0.713313	0.13225	N	0.404073	T	0.19927	0.0479	N	0.08118	0	0.09310	N	1	P	0.36768	0.569	B	0.14023	0.01	T	0.04481	-1.0948	10	0.42905	T	0.14	1.2929	12.1211	0.53891	0.0:0.8268:0.1732:0.0	.	382	Q5JU67	CI117_HUMAN	H	382;31	ENSP00000362392:R382H	ENSP00000362391:R31H	R	+	2	0	C9orf117	129514816	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.623000	0.24447	1.219000	0.43474	-0.375000	0.07067	CGC		0.592	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054215.2	NM_001012502	
DNM1	1759	broad.mit.edu	37	9	130984838	130984838	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:130984838G>A	ENST00000372923.3	+	8	1183	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	DNM1_ENST00000486160.1_Missense_Mutation_p.R364Q|DNM1_ENST00000341179.7_Missense_Mutation_p.R364Q|DNM1_ENST00000393594.3_Missense_Mutation_p.R364Q|DNM1_ENST00000475805.1_Missense_Mutation_p.R364Q	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	364					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.R364Q(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CGCATTAACCGAATCTTCCAC	0.587																																					p.R364Q	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1091A	9						.						88.0	89.0	88.0					9																	130984838		2203	4300	6503	130024659	SO:0001583	missense	1759	exon8			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.1091G>A	9.37:g.130984838G>A	ENSP00000362014:p.Arg364Gln		130024659	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850856	0.91277	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.88	5.88	0.94601	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.927;0.994	D	0.85845	0.1400	10	0.59425	D	0.04	-24.5224	20.221	0.98325	0.0:0.0:1.0:0.0	.	364;364;364	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	Q	364;364;364;359;364;364	ENSP00000419225:R364Q;ENSP00000345680:R364Q;ENSP00000362014:R364Q;ENSP00000377219:R364Q;ENSP00000420045:R364Q	ENSP00000345680:R364Q	R	+	2	0	DNM1	130024659	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	9.869000	0.99810	2.792000	0.96026	0.555000	0.69702	CGA		0.587	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
GOLGA2	2801	broad.mit.edu	37	9	131036225	131036225	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:131036225G>A	ENST00000421699.2	-	2	123	c.111C>T	c.(109-111)agC>agT	p.S37S	SWI5_ENST00000495313.1_5'Flank|GOLGA2_ENST00000609374.1_Silent_p.S25S|GOLGA2_ENST00000490628.1_Silent_p.S37S|SWI5_ENST00000608796.1_5'Flank|SWI5_ENST00000320188.5_5'Flank|SWI5_ENST00000419867.2_5'Flank|SWI5_ENST00000418976.1_5'Flank	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	37					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.S25S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GAACACCAGGGCTATTCCTCT	0.418																																					p.S37S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	9						.						166.0	182.0	177.0					9																	131036225		2203	4300	6503	130076046	SO:0001819	synonymous_variant	2801	exon2			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.111C>T	9.37:g.131036225G>A			130076046	NM_004486	Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	CCDS6896.2																																																																																				0.418	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486	
ODF2	4957	broad.mit.edu	37	9	131262356	131262356	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:131262356G>A	ENST00000434106.3	+	21	2675	c.2312G>A	c.(2311-2313)cGc>cAc	p.R771H	ODF2_ENST00000444119.2_Missense_Mutation_p.R747H|ODF2_ENST00000372807.5_Missense_Mutation_p.R766H|ODF2_ENST00000604420.1_Missense_Mutation_p.R771H|ODF2_ENST00000393527.3_Missense_Mutation_p.R747H|ODF2_ENST00000351030.3_Missense_Mutation_p.R766H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	771					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.R747H(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCGGACCGCCGCTACCAGAGC	0.542																																					p.R835H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2504A	9						.						95.0	86.0	89.0					9																	131262356		2203	4300	6503	130302177	SO:0001583	missense	4957	exon21			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2312G>A	9.37:g.131262356G>A	ENSP00000403453:p.Arg771His		130302177	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329563	0.95733	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.27104	1.71;1.7;1.69	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.986;0.995;0.995	T	0.11446	-1.0587	10	0.26408	T	0.33	-4.358	18.0467	0.89335	0.0:0.0:1.0:0.0	.	766;116;771;747	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	H	766;771;747	ENSP00000342581:R766H;ENSP00000361882:R771H;ENSP00000307781:R747H	ENSP00000307781:R747H	R	+	2	0	ODF2	130302177	1.000000	0.71417	0.996000	0.52242	0.845000	0.48019	7.427000	0.80284	2.504000	0.84457	0.561000	0.74099	CGC		0.542	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
PKN3	29941	broad.mit.edu	37	9	131482765	131482765	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:131482765C>T	ENST00000291906.4	+	22	2943	c.2550C>T	c.(2548-2550)ggC>ggT	p.G850G	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	850	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.G850G(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACTTTGAGGGCGAGTTCACAG	0.677																																					p.G850G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2550T	9						.						66.0	70.0	68.0					9																	131482765		2203	4300	6503	130522586	SO:0001819	synonymous_variant	29941	exon22			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2550C>T	9.37:g.131482765C>T			130522586	NM_013355	Q9UM03	Silent	SNP	ENST00000291906.4	37	CCDS6908.1																																																																																				0.677	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355	
MPDZ	8777	broad.mit.edu	37	9	13125380	13125380	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:13125380G>T	ENST00000319217.7	-	35	4889	c.4642C>A	c.(4642-4644)Ctt>Att	p.L1548I	MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.L407I|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1548I|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1548I|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1562I|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1515I|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1548I|MPDZ_ENST00000536827.1_Missense_Mutation_p.L1515I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1548	PDZ 9. {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.L1548I(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)		GTCTTCAGAAGGCTAATAAAC	0.418																																					p.L1548I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4642A	9						.						88.0	86.0	87.0					9																	13125380		1897	4115	6012	13115380	SO:0001583	missense	8777	exon34			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.4642C>A	9.37:g.13125380G>T	ENSP00000320006:p.Leu1548Ile		13115380	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	13.02	2.112270	0.37242	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.83	5.83	0.93111	PDZ/DHR/GLGF (4);	0.000000	0.42172	D	0.000742	T	0.57301	0.2044	L	0.42245	1.32	0.80722	D	1	D;P;P;D;D;D;D	0.89917	1.0;0.875;0.877;1.0;0.999;0.996;0.975	D;P;P;D;D;D;D	0.75484	0.985;0.683;0.705;0.986;0.983;0.928;0.925	T	0.46048	-0.9219	10	0.11794	T	0.64	.	14.2892	0.66265	0.0707:0.0:0.9293:0.0	.	1515;407;253;1515;1428;1548;1548	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970	.;.;.;.;.;.;MPDZ_HUMAN	I	1548;1548;1548;117;484;407;1515;1515;1548;1428;1562	ENSP00000320006:L1548I;ENSP00000439807:L1548I;ENSP00000370410:L1548I;ENSP00000415964:L117I;ENSP00000444230:L484I;ENSP00000444717:L407I;ENSP00000444151:L1515I;ENSP00000415208:L1515I;ENSP00000370403:L1548I;ENSP00000446358:L1562I	ENSP00000320006:L1548I	L	-	1	0	MPDZ	13115380	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.296000	0.59055	2.761000	0.94854	0.650000	0.86243	CTT		0.418	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
MPDZ	8777	broad.mit.edu	37	9	13247771	13247771	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:13247771G>A	ENST00000319217.7	-	3	293	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	MPDZ_ENST00000381015.4_Missense_Mutation_p.R16C|MPDZ_ENST00000381022.2_Missense_Mutation_p.R16C|MPDZ_ENST00000546205.1_Missense_Mutation_p.R16C|MPDZ_ENST00000447879.1_Missense_Mutation_p.R16C|MPDZ_ENST00000541718.1_Missense_Mutation_p.R16C|MPDZ_ENST00000536827.1_Missense_Mutation_p.R16C	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	16	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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.R16C(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)		GTTTGCAAGCGCTCTGCTGCA	0.488																																					p.R16C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C46T	9						.						250.0	238.0	242.0					9																	13247771		1917	4135	6052	13237771	SO:0001583	missense	8777	exon2			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.46C>T	9.37:g.13247771G>A	ENSP00000320006:p.Arg16Cys		13237771	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	G	18.70	3.680113	0.68042	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.20463	2.11;2.07;2.07;2.08;2.11;2.11;2.11	5.68	5.68	0.88126	.	0.000000	0.45867	D	0.000339	T	0.44808	0.1311	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;0.999	T	0.33445	-0.9868	10	0.87932	D	0	.	13.6986	0.62595	0.0:0.0:0.8459:0.1541	.	16;16;16	B7ZMI4;O75970-3;O75970-2	.;.;.	C	16	ENSP00000320006:R16C;ENSP00000439807:R16C;ENSP00000370410:R16C;ENSP00000444151:R16C;ENSP00000415208:R16C;ENSP00000370403:R16C;ENSP00000446358:R16C	ENSP00000320006:R16C	R	-	1	0	MPDZ	13237771	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.975000	0.70475	2.690000	0.91761	0.491000	0.48974	CGC		0.488	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
NUP188	23511	broad.mit.edu	37	9	131767990	131767990	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:131767990G>A	ENST00000372577.2	+	41	4825	c.4804G>A	c.(4804-4806)Gaa>Aaa	p.E1602K	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1602					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.E1602K(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						CTTTGACTCCGAAGTGGCCCC	0.552																																					p.E1602K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4804A	9						.						247.0	234.0	238.0					9																	131767990		2203	4300	6503	130807811	SO:0001583	missense	23511	exon41			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.4804G>A	9.37:g.131767990G>A	ENSP00000361658:p.Glu1602Lys		130807811	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076507	0.76415	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.35605	1.3	5.32	5.32	0.75619	.	0.047041	0.85682	D	0.000000	T	0.26702	0.0653	N	0.24115	0.695	0.51233	D	0.99991	B	0.31519	0.327	B	0.16722	0.016	T	0.08868	-1.0701	10	0.66056	D	0.02	-28.1702	18.0037	0.89203	0.0:0.0:1.0:0.0	.	1602	Q5SRE5	NU188_HUMAN	K	1491;1602	ENSP00000361658:E1602K	ENSP00000349125:E1491K	E	+	1	0	NUP188	130807811	1.000000	0.71417	0.944000	0.38274	0.868000	0.49771	9.148000	0.94652	2.482000	0.83794	0.561000	0.74099	GAA		0.552	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		
SETX	23064	broad.mit.edu	37	9	135221704	135221704	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:135221704C>T	ENST00000224140.5	-	4	514	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SETX_ENST00000393220.1_Missense_Mutation_p.R111Q|SETX_ENST00000372169.2_Missense_Mutation_p.R111Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	111					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.R111Q(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)		AAGAGGAACTCGAAGCTTATT	0.348																																					p.R111Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	9						.						136.0	130.0	132.0					9																	135221704		2203	4300	6503	134211525	SO:0001583	missense	23064	exon4			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.332G>A	9.37:g.135221704C>T	ENSP00000224140:p.Arg111Gln		134211525	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677170	0.88445	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.88124	-2.26;-2.34;-1.96	5.43	5.43	0.79202	.	0.199292	0.33631	N	0.004704	D	0.90024	0.6885	L	0.29908	0.895	0.30719	N	0.748423	D	0.89917	1.0	D	0.80764	0.994	D	0.88674	0.3197	10	0.72032	D	0.01	.	18.2287	0.89927	0.0:1.0:0.0:0.0	.	111	Q7Z333	SETX_HUMAN	Q	111	ENSP00000224140:R111Q;ENSP00000361242:R111Q;ENSP00000376913:R111Q	ENSP00000224140:R111Q	R	-	2	0	SETX	134211525	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.216000	0.58540	2.561000	0.86390	0.557000	0.71058	CGA		0.348	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
TTF1	7270	broad.mit.edu	37	9	135251433	135251433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:135251433G>A	ENST00000334270.2	-	11	2626	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	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	863					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.R863*(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)		AAGATGTCTCGAAATGGGAAA	0.438																																					p.R863X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2587T	9						.						141.0	135.0	137.0					9																	135251433		2203	4300	6503	134241254	SO:0001587	stop_gained	7270	exon11			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.2587C>T	9.37:g.135251433G>A	ENSP00000333920:p.Arg863*		134241254	NM_007344	A1L160|Q4VXF3|Q58EY2|Q6P5T5	Nonsense_Mutation	SNP	ENST00000334270.2	37	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.547002	0.86022	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	.	.	.	4.97	-8.47	0.00939	.	2.240520	0.02869	N	0.131248	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.1647	0.99947	0.0:0.0:0.8276:0.1724	.	.	.	.	X	863	.	ENSP00000245588:R863X	R	-	1	2	TTF1	134241254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.008000	0.12788	-1.734000	0.01355	-0.471000	0.05019	CGA		0.438	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344	
STKLD1	169436	broad.mit.edu	37	9	136259426	136259426	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:136259426C>T	ENST00000371957.3	+	8	699	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R198C(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGACCCCTTTCGTAAGTCCTG	0.567																																					p.R198C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	9						.						214.0	181.0	192.0					9																	136259426		2203	4300	6503	135249247	SO:0001583	missense	169436	exon8																														ENST00000371957.3:c.592C>T	9.37:g.136259426C>T	ENSP00000361025:p.Arg198Cys		135249247	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	8.645	0.896782	0.17686	.	.	ENSG00000198870	ENST00000371957	T	0.65178	-0.14	4.63	1.62	0.23740	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.203520	0.05947	N	0.638099	T	0.45657	0.1353	N	0.21508	0.67	0.09310	N	0.999998	B	0.11235	0.004	B	0.01281	0.0	T	0.29852	-0.9998	10	0.37606	T	0.19	-2.6209	4.354	0.11169	0.1767:0.6235:0.0:0.1998	.	198	Q8NE28	SGK71_HUMAN	C	198	ENSP00000361025:R198C	ENSP00000361025:R198C	R	+	1	0	C9orf96	135249247	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	0.342000	0.19926	0.366000	0.24427	0.456000	0.33151	CGT		0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		
OLFM1	10439	broad.mit.edu	37	9	138011470	138011470	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:138011470G>A	ENST00000371793.3	+	6	1155	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	OLFM1_ENST00000252854.4_Missense_Mutation_p.G284R|OLFM1_ENST00000371796.3_Missense_Mutation_p.G275R	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	302	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.G284R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GTCGGGCACGGGGCAGGTGGT	0.532																																					p.G284R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	9						.						97.0	89.0	92.0					9																	138011470		2203	4300	6503	137151291	SO:0001583	missense	10439	exon6			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.904G>A	9.37:g.138011470G>A	ENSP00000360858:p.Gly302Arg		137151291	NM_014279	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.450523	0.84101	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793;ENST00000539877	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.02	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.81914	0.995;0.98	D	0.98789	1.0735	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	302;284	Q99784;Q6IMJ8	NOE1_HUMAN;.	R	284;275;302;199	ENSP00000252854:G284R;ENSP00000360861:G275R;ENSP00000360858:G302R;ENSP00000443806:G199R	ENSP00000252854:G284R	G	+	1	0	OLFM1	137151291	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GGG		0.532	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279	
GLT6D1	360203	broad.mit.edu	37	9	138516033	138516033	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:138516033C>A	ENST00000371763.1	-	5	994	c.741G>T	c.(739-741)ctG>ctT	p.L247L		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	247					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.L247L(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACTCCGTTCAGATATTCTT	0.383																																					p.L247L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741T	9						.						142.0	140.0	141.0					9																	138516033		1844	4098	5942	137655854	SO:0001819	synonymous_variant	360203	exon5			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.741G>T	9.37:g.138516033C>A			137655854	NM_182974		Silent	SNP	ENST00000371763.1	37	CCDS43900.1																																																																																				0.383	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974	
SNAPC4	6621	broad.mit.edu	37	9	139283037	139283037	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:139283037G>A	ENST00000298532.2	-	10	1350	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.R328C(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)		AAGGCGCTGCGGCTGGTCTTC	0.587																																					p.R328C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C982T	9						.						96.0	84.0	88.0					9																	139283037		2203	4300	6503	138402858	SO:0001583	missense	6621	exon10			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.982C>T	9.37:g.139283037G>A	ENSP00000298532:p.Arg328Cys		138402858	NM_003086		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693317	0.48202	.	.	ENSG00000165684	ENST00000298532	T	0.29917	1.55	4.94	4.94	0.65067	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81640	-0.0841	10	0.87932	D	0	-29.0022	11.1255	0.48315	0.0:0.0:0.7027:0.2973	.	328	Q5SXM2	SNPC4_HUMAN	C	328	ENSP00000298532:R328C	ENSP00000298532:R328C	R	-	1	0	SNAPC4	138402858	0.998000	0.40836	0.936000	0.37596	0.329000	0.28539	2.595000	0.46197	2.292000	0.77174	0.511000	0.50034	CGC		0.587	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086	
SPATA6L	55064	broad.mit.edu	37	9	4617927	4617927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:4617927C>A	ENST00000454239.2	-	10	1236	c.991G>T	c.(991-993)Gaa>Taa	p.E331*	SPATA6L_ENST00000381895.5_Nonsense_Mutation_p.E208*|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Nonsense_Mutation_p.E273*			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	331								p.E331*(1)									ACTGACCTTTCTCTGAGAAGG	0.522																																					p.E273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G817T	9						.						80.0	81.0	81.0					9																	4617927		1932	4137	6069	4607927	SO:0001587	stop_gained	55064	exon8			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.991G>T	9.37:g.4617927C>A	ENSP00000404277:p.Glu331*		4607927	NM_001039395	B4DIY4|Q5JVJ5|Q8IY90	Nonsense_Mutation	SNP	ENST00000454239.2	37		.	.	.	.	.	.	.	.	.	.	C	41	9.005029	0.99033	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	.	.	.	4.89	4.89	0.63831	.	0.514389	0.17833	N	0.160470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.7445	0.62868	0.0:1.0:0.0:0.0	.	.	.	.	X	331;273;208	.	ENSP00000371319:E208X	E	-	1	0	C9orf68	4607927	0.821000	0.29204	0.977000	0.42913	0.143000	0.21401	0.420000	0.21263	2.699000	0.92147	0.563000	0.77884	GAA		0.522	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	
SPATA6L	55064	broad.mit.edu	37	9	4618898	4618898	+	Splice_Site	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:4618898G>A	ENST00000454239.2	-	9	1018	c.773C>T	c.(772-774)gCt>gTt	p.A258V	SPATA6L_ENST00000381895.5_Splice_Site_p.A135V|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Splice_Site_p.A200V			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	258								p.A258V(1)									AAGAGAAGAAGCTAGAAGAAA	0.313																																					p.A200V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C599T	9						.						77.0	70.0	72.0					9																	4618898		1827	4089	5916	4608898	SO:0001630	splice_region_variant	55064	exon7			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.773-1C>T	9.37:g.4618898G>A			4608898	NM_001039395	B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37		.	.	.	.	.	.	.	.	.	.	G	15.00	2.702103	0.48307	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.35048	1.83;1.79;1.33	5.6	4.71	0.59529	.	0.105921	0.42682	N	0.000676	T	0.30541	0.0768	L	0.54323	1.7	0.42596	D	0.993261	P;P;B	0.43973	0.521;0.823;0.028	B;B;B	0.39738	0.204;0.308;0.027	T	0.07966	-1.0745	10	0.15499	T	0.54	.	10.381	0.44113	0.0872:0.0:0.9128:0.0	.	200;135;258	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	V	258;200;135	ENSP00000404277:A258V;ENSP00000417063:A200V;ENSP00000371319:A135V	ENSP00000371319:A135V	A	-	2	0	C9orf68	4608898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.105000	0.41825	1.627000	0.50400	0.644000	0.83932	GCT		0.313	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	Missense_Mutation
JAK2	3717	broad.mit.edu	37	9	5069037	5069037	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:5069037G>T	ENST00000381652.3	+	11	1836	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.E448*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.E299*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	448	SH2; atypical. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		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)	AAATGTCATTGAATATAAACA	0.318		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.E448X			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	0			c.G1342T	9						.						61.0	66.0	64.0					9																	5069037		2203	4299	6502	5059037	SO:0001587	stop_gained	3717	exon11	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.1342G>T	9.37:g.5069037G>T	ENSP00000371067:p.Glu448*		5059037	NM_004972	O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	41	8.851915	0.98978	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.02	5.02	0.67125	.	0.368998	0.31601	N	0.007364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.1848	14.0219	0.64560	0.0:0.1513:0.8487:0.0	.	.	.	.	X	448;448;299	.	ENSP00000371067:E448X	E	+	1	0	JAK2	5059037	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.258000	0.72487	2.310000	0.77875	0.591000	0.81541	GAA		0.318	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
INSL6	11172	broad.mit.edu	37	9	5185387	5185387	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:5185387G>A	ENST00000381641.3	-	1	281	c.216C>T	c.(214-216)gtC>gtT	p.V72V		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	72					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.V72V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGTAGGCTTCGACCTTCTCCG	0.542																																					p.V72V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216T	9						.						113.0	116.0	115.0					9																	5185387		2203	4300	6503	5175387	SO:0001819	synonymous_variant	11172	exon1			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.216C>T	9.37:g.5185387G>A			5175387	NM_007179	A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	CCDS6458.1																																																																																				0.542	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
RANBP6	26953	broad.mit.edu	37	9	6014495	6014495	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:6014495G>T	ENST00000259569.5	-	1	1123	c.1113C>A	c.(1111-1113)atC>atA	p.I371I	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	371	Ran-GTP binding. {ECO:0000250}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCATCTGCATGATATGCTCCT	0.458																																					p.I371I												.	.	0			c.C1113A	9						.						102.0	89.0	93.0					9																	6014495		2203	4300	6503	6004495	SO:0001819	synonymous_variant	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1113C>A	9.37:g.6014495G>T			6004495	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.458	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
IL33	90865	broad.mit.edu	37	9	6256123	6256123	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:6256123G>T	ENST00000381434.3	+	7	781	c.768G>T	c.(766-768)gaG>gaT	p.E256D	IL33_ENST00000456383.2_Missense_Mutation_p.E214D|IL33_ENST00000417746.2_Missense_Mutation_p.E130D	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	256					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.E256D(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACTCTTCTGAGAATTTGTGTA	0.388																																					p.E214D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G642T	9						.						115.0	116.0	116.0					9																	6256123		2203	4300	6503	6246123	SO:0001583	missense	90865	exon7			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.768G>T	9.37:g.6256123G>T	ENSP00000370842:p.Glu256Asp		6246123	NM_001199640	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165187	0.21538	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.48522	0.81;0.81;0.81	5.13	-3.94	0.04130	.	1.202640	0.06055	N	0.657347	T	0.22820	0.0551	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22211	0.012;0.066;0.066	B;B;B	0.18871	0.013;0.023;0.023	T	0.10382	-1.0632	10	0.23302	T	0.38	-0.5391	1.5195	0.02512	0.3127:0.3202:0.2445:0.1226	.	130;214;256	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	D	130;214;256	ENSP00000394039:E130D;ENSP00000414238:E214D;ENSP00000370842:E256D	ENSP00000370842:E256D	E	+	3	2	IL33	6246123	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.086000	0.11233	-0.865000	0.04073	0.655000	0.94253	GAG		0.388	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439	
TPD52L3	89882	broad.mit.edu	37	9	6330998	6330998	+	IGR	SNP	G	G	A	rs192550349		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:6330998G>A	ENST00000344545.5	+	0	2572				TPD52L3_ENST00000314556.3_Silent_p.T130T	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3									p.T130T(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ATAAATACACGTTAAATCAAG	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		20283	0.0		0.001	False		,,,				2504	0.0				p.T130T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G390A	9						.						102.0	101.0	101.0					9																	6330998		2202	4298	6500	6320998	SO:0001628	intergenic_variant	89882	exon2			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518		9.37:g.6330998G>A			6320998	NM_001001874	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	CCDS34986.1																																																																																				0.313	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516	
FREM1	158326	broad.mit.edu	37	9	14842347	14842347	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:14842347C>T	ENST00000380880.3	-	9	2488	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	FREM1_ENST00000422223.2_Missense_Mutation_p.E569K|FREM1_ENST00000380881.4_Missense_Mutation_p.E570K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	569					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.E570K(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)		TTCATGATCTCCCCAGCCTGT	0.483																																					p.E569K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705A	9						.						112.0	110.0	111.0					9																	14842347		1950	4134	6084	14832347	SO:0001583	missense	158326	exon10			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.1705G>A	9.37:g.14842347C>T	ENSP00000370262:p.Glu569Lys		14832347	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051403	0.75960	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.48522	0.81;0.81;0.81	5.93	5.04	0.67666	.	0.151090	0.64402	D	0.000020	T	0.70596	0.3242	M	0.86420	2.815	0.51767	D	0.999938	D	0.61080	0.989	P	0.61070	0.883	T	0.76069	-0.3094	10	0.48119	T	0.1	-21.9832	17.391	0.87431	0.0:0.8754:0.1246:0.0	.	569	Q5H8C1	FREM1_HUMAN	K	570;569;569	ENSP00000370263:E570K;ENSP00000412940:E569K;ENSP00000370262:E569K	ENSP00000370257:E572K	E	-	1	0	FREM1	14832347	1.000000	0.71417	0.997000	0.53966	0.603000	0.37013	4.652000	0.61454	1.541000	0.49316	-0.127000	0.14921	GAG		0.483	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FREM1	158326	broad.mit.edu	37	9	14857648	14857648	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:14857648C>T	ENST00000380880.3	-	5	1514	c.731G>A	c.(730-732)gGc>gAc	p.G244D	FREM1_ENST00000422223.2_Missense_Mutation_p.G244D|FREM1_ENST00000380881.4_Missense_Mutation_p.G244D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	244					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.G244D(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)		ATAACGAAGGCCCATCAGCAG	0.473																																					p.G244D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G731A	9						.						167.0	163.0	164.0					9																	14857648		1905	4128	6033	14847648	SO:0001583	missense	158326	exon6			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.731G>A	9.37:g.14857648C>T	ENSP00000370262:p.Gly244Asp		14847648	NM_144966	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385615	0.82792	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.15952	2.38;2.39;2.39	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.69358	2.11	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.08289	-1.0729	10	0.87932	D	0	-19.2211	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	244	Q5H8C1	FREM1_HUMAN	D	244	ENSP00000370263:G244D;ENSP00000412940:G244D;ENSP00000370262:G244D	ENSP00000370257:G244D	G	-	2	0	FREM1	14847648	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	4.514000	0.60482	2.941000	0.99782	0.655000	0.94253	GGC		0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
HAUS6	54801	broad.mit.edu	37	9	19058679	19058679	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:19058679C>A	ENST00000380502.3	-	16	2553	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	HAUS6_ENST00000380496.1_Missense_Mutation_p.D560Y	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	696					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.D696Y(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						CATTCCAAATCTTGCTTGCAA	0.433																																					p.D696Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2086T	9						.						49.0	51.0	50.0					9																	19058679		2201	4277	6478	19048679	SO:0001583	missense	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.2086G>T	9.37:g.19058679C>A	ENSP00000369871:p.Asp696Tyr		19048679	NM_017645	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902484	0.52227	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.27104	1.69;1.7	5.04	3.16	0.36331	.	0.628614	0.16355	N	0.218008	T	0.40522	0.1120	M	0.62723	1.935	0.30276	N	0.791819	D;D;D	0.71674	0.998;0.983;0.998	P;P;P	0.60415	0.874;0.847;0.874	T	0.36939	-0.9727	10	0.72032	D	0.01	-4.8349	8.727	0.34476	0.0:0.7542:0.0:0.2458	.	661;560;696	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	Y	696;560	ENSP00000369871:D696Y;ENSP00000369865:D560Y	ENSP00000369865:D560Y	D	-	1	0	HAUS6	19048679	0.481000	0.25941	0.995000	0.50966	0.916000	0.54674	0.741000	0.26202	1.240000	0.43803	0.453000	0.30009	GAT		0.433	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645	
FOCAD	54914	broad.mit.edu	37	9	20740295	20740295	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:20740295A>C	ENST00000380249.1	+	7	712	c.348A>C	c.(346-348)gaA>gaC	p.E116D	FOCAD_ENST00000338382.6_Missense_Mutation_p.E116D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	116						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.E116D(1)									CTCTTAAGGAAGGACAAGGTG	0.274																																					p.E116D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A348C	9						.						84.0	86.0	85.0					9																	20740295		2203	4299	6502	20730295	SO:0001583	missense	54914	exon7			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.348A>C	9.37:g.20740295A>C	ENSP00000369599:p.Glu116Asp		20730295	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235492	0.39498	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23147	1.92;1.92	5.55	5.55	0.83447	Domain of unknown function DUF3730 (1);	0.261285	0.37669	N	0.001998	T	0.17577	0.0422	N	0.24115	0.695	0.27148	N	0.961483	P	0.47191	0.891	P	0.45753	0.492	T	0.09552	-1.0669	10	0.14252	T	0.57	-4.7294	7.1599	0.25659	0.8682:0.0:0.1318:0.0	.	116	Q5VW36	K1797_HUMAN	D	116	ENSP00000369599:E116D;ENSP00000344307:E116D	ENSP00000344307:E116D	E	+	3	2	KIAA1797	20730295	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.138000	0.50570	2.107000	0.64212	0.459000	0.35465	GAA		0.274	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
IFNA10	3446	broad.mit.edu	37	9	21206947	21206947	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:21206947G>T	ENST00000357374.2	-	1	195	c.150C>A	c.(148-150)ttC>ttA	p.F50L		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	50					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.F50L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TCAGGCAGGAGAAAGGAGAGA	0.512																																					p.F50L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C150A	9						.						110.0	116.0	114.0					9																	21206947		2203	4299	6502	21196947	SO:0001583	missense	3446	exon1				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.150C>A	9.37:g.21206947G>T	ENSP00000369566:p.Phe50Leu		21196947	NM_002171	Q5VV13	Missense_Mutation	SNP	ENST00000357374.2	37	CCDS6499.1	.	.	.	.	.	.	.	.	.	.	-	7.996	0.754353	0.15778	.	.	ENSG00000186803	ENST00000357374	T	0.04706	3.57	3.65	-0.277	0.12898	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.417150	0.04304	N	0.347745	T	0.04952	0.0133	L	0.37697	1.125	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.46541	-0.9184	10	0.15952	T	0.53	.	7.6685	0.28445	0.107:0.377:0.516:0.0	.	50	P01566	IFN10_HUMAN	L	50	ENSP00000369566:F50L	ENSP00000369566:F50L	F	-	3	2	IFNA10	21196947	0.000000	0.05858	0.002000	0.10522	0.614000	0.37383	0.260000	0.18424	0.141000	0.18875	0.499000	0.49734	TTC		0.512	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051887.1	NM_002171	
KLHL9	55958	broad.mit.edu	37	9	21333625	21333625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:21333625C>A	ENST00000359039.4	-	1	1754	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	KLHL9_ENST00000537938.1_Nonsense_Mutation_p.E344*			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	412					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.E412*(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GTGGCCAGTTCACCAGCTGCA	0.453																																					p.E412X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1234T	9						.						114.0	104.0	107.0					9																	21333625		2203	4300	6503	21323625	SO:0001587	stop_gained	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1234G>T	9.37:g.21333625C>A	ENSP00000351933:p.Glu412*		21323625	NM_018847	Q8TCQ2	Nonsense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	37	6.225254	0.97390	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	15.4894	0.75593	0.0:1.0:0.0:0.0	.	.	.	.	X	412;344	.	ENSP00000351933:E412X	E	-	1	0	KLHL9	21323625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.005000	0.70716	2.323000	0.78572	0.655000	0.94253	GAA		0.453	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
PLAA	9373	broad.mit.edu	37	9	26935019	26935019	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:26935019T>G	ENST00000397292.3	-	2	752	c.335A>C	c.(334-336)aAa>aCa	p.K112T	PLAA_ENST00000520884.1_Missense_Mutation_p.K112T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	112					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)	p.K55T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACCAGTATTTTTGTGGCCTTT	0.333																																					p.K112T	Melanoma(175;2670 2735 14091 35526)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A335C	9						.						88.0	91.0	90.0					9																	26935019		2203	4300	6503	26925019	SO:0001583	missense	9373	exon2			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.335A>C	9.37:g.26935019T>G	ENSP00000380460:p.Lys112Thr		26925019	NM_001031689	Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.815|8.815	0.936087|0.936087	0.18206|0.18206	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000523212	T;T|.	0.55052|.	0.54;0.54|.	5.32|5.32	5.32|5.32	0.75619|0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.044564|.	0.85682|.	D|.	0.000000|.	T|T	0.21761|0.21761	0.0524|0.0524	N|N	0.01352|0.01352	-0.895|-0.895	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.14805|.	0.011;0.001|.	B;B|.	0.19666|.	0.026;0.004|.	T|T	0.23904|0.23904	-1.0175|-1.0175	10|5	0.06494|.	T|.	0.89|.	-16.3051|-16.3051	12.4451|12.4451	0.55647|0.55647	0.0:0.0:0.1395:0.8605|0.0:0.0:0.1395:0.8605	.|.	112;112|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	T|H	112|88	ENSP00000380460:K112T;ENSP00000429372:K112T|.	ENSP00000380460:K112T|.	K|Q	-|-	2|3	0|2	PLAA|PLAA	26925019|26925019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.918000|5.918000	0.69996|0.69996	1.995000|1.995000	0.58328|0.58328	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.333	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689	
TEK	7010	broad.mit.edu	37	9	27206730	27206730	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:27206730C>A	ENST00000380036.4	+	15	2957	c.2515C>A	c.(2515-2517)Ctt>Att	p.L839I	TEK_ENST00000406359.4_Missense_Mutation_p.L796I|TEK_ENST00000519097.1_Missense_Mutation_p.L691I	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	839	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.L839I(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)	TGGCCAAGTTCTTAAGGCGCG	0.453																																					p.L839I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2515A	9						.						83.0	75.0	78.0					9																	27206730		2203	4300	6503	27196730	SO:0001583	missense	7010	exon15			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.2515C>A	9.37:g.27206730C>A	ENSP00000369375:p.Leu839Ile		27196730	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602351	0.28534	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	T;T;T	0.69561	-0.41;-0.41;-0.41	5.9	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40728	N	0.001023	T	0.64789	0.2630	N	0.16567	0.415	0.44424	D	0.997343	B;P;B;D	0.69078	0.003;0.557;0.017;0.997	B;P;B;D	0.91635	0.037;0.576;0.089;0.999	T	0.59979	-0.7352	10	0.09338	T	0.73	.	11.6247	0.51138	0.1251:0.8095:0.0:0.0654	.	691;872;796;839	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	I	691;839;796	ENSP00000430686:L691I;ENSP00000369375:L839I;ENSP00000383977:L796I	ENSP00000369375:L839I	L	+	1	0	TEK	27196730	0.976000	0.34144	0.809000	0.32408	0.990000	0.78478	2.071000	0.41500	1.500000	0.48636	0.637000	0.83480	CTT		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
LINGO2	158038	broad.mit.edu	37	9	27950531	27950531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:27950531G>A	ENST00000379992.2	-	6	588	c.139C>T	c.(139-141)Cga>Tga	p.R47*	LINGO2_ENST00000308675.3_Nonsense_Mutation_p.R47*	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	47	LRRNT.					integral component of membrane (GO:0016021)		p.R47*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGATCAATCGCCTTCTGTGA	0.493																																					p.R47X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C139T	9						.						129.0	127.0	128.0					9																	27950531		2203	4300	6503	27940531	SO:0001587	stop_gained	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.139C>T	9.37:g.27950531G>A	ENSP00000369328:p.Arg47*		27940531	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Nonsense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	36	5.710938	0.96821	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	.	.	.	5.74	1.46	0.22682	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8426	0.78861	0.0:0.0:0.5204:0.4796	.	.	.	.	X	47	.	.	R	-	1	2	LINGO2	27940531	1.000000	0.71417	0.172000	0.22920	0.962000	0.63368	4.589000	0.61006	0.396000	0.25283	0.561000	0.74099	CGA		0.493	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
TOPORS	10210	broad.mit.edu	37	9	32542526	32542526	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:32542526C>T	ENST00000360538.2	-	3	2113	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	TOPORS_ENST00000379858.1_Missense_Mutation_p.S601N	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	666	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S666N(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)		TCTGCTTGTGCTTTCACTACT	0.398																																					p.S601N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1802A	9						.						280.0	262.0	268.0					9																	32542526		2203	4300	6503	32532526	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.1997G>A	9.37:g.32542526C>T	ENSP00000353735:p.Ser666Asn		32532526	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	8.815	0.936113	0.18206	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.23552	1.9;2.01	6.16	5.26	0.73747	.	0.000000	0.64402	D	0.000009	T	0.22205	0.0535	L	0.29908	0.895	0.31274	N	0.691363	B	0.26195	0.144	B	0.21708	0.036	T	0.11421	-1.0588	10	0.54805	T	0.06	-10.9893	16.5364	0.84373	0.0:0.869:0.131:0.0	.	666	Q9NS56	TOPRS_HUMAN	N	666;601	ENSP00000353735:S666N;ENSP00000369187:S601N	ENSP00000353735:S666N	S	-	2	0	TOPORS	32532526	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	5.348000	0.66004	1.604000	0.50143	-0.182000	0.12963	AGC		0.398	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TAF1L	138474	broad.mit.edu	37	9	32631919	32631919	+	Missense_Mutation	SNP	T	T	G	rs556381126		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:32631919T>G	ENST00000242310.4	-	1	3748	c.3659A>C	c.(3658-3660)aAa>aCa	p.K1220T	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1220					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K1220T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTCTCATCTTTTGTAGTCCG	0.448																																					p.K1220T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3659C	9						.						143.0	133.0	136.0					9																	32631919		2203	4300	6503	32621919	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3659A>C	9.37:g.32631919T>G	ENSP00000418379:p.Lys1220Thr		32621919	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929461	0.34096	.	.	ENSG00000122728	ENST00000242310	T	0.62941	-0.01	0.479	0.479	0.16796	.	0.088024	0.85682	D	0.000000	T	0.54759	0.1878	M	0.68952	2.095	0.52501	D	0.999959	B	0.25809	0.135	B	0.31390	0.129	T	0.49826	-0.8898	10	0.46703	T	0.11	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1220	Q8IZX4	TAF1L_HUMAN	T	1220	ENSP00000418379:K1220T	ENSP00000418379:K1220T	K	-	2	0	TAF1L	32621919	1.000000	0.71417	0.981000	0.43875	0.333000	0.28666	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	AAA		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
ARID3C	138715	broad.mit.edu	37	9	34627855	34627855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:34627855C>A	ENST00000378909.2	-	1	249	c.157G>T	c.(157-159)Gag>Tag	p.E53*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	53	Glu-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane raft (GO:0045121)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E53*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		gcatcttcctcttcctcAGCC	0.692																																					p.E53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G157T	9						.						24.0	20.0	21.0					9																	34627855		2190	4278	6468	34617855	SO:0001587	stop_gained	138715	exon1				CCDS35006.1	9p13.2	2013-02-07	2006-11-08		ENSG00000205143	ENSG00000205143		"""-"""	21209	protein-coding gene	gene with protein product			"""AT rich interactive domain 3C (BRIGHT- like)"""				Standard	NM_001017363		Approved		uc011lon.2	A6NKF2	OTTHUMG00000000445	ENST00000378909.2:c.157G>T	9.37:g.34627855C>A	ENSP00000368189:p.Glu53*		34617855	NM_001017363		Nonsense_Mutation	SNP	ENST00000378909.2	37	CCDS35006.1	.	.	.	.	.	.	.	.	.	.	c	35	5.547224	0.96488	.	.	ENSG00000205143	ENST00000378909	.	.	.	5.15	5.15	0.70609	.	1.023330	0.07809	N	0.957793	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-12.1614	15.4913	0.75607	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000368189:E53X	E	-	1	0	ARID3C	34617855	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.842000	0.62831	2.675000	0.91044	0.486000	0.48141	GAG		0.692	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061	
KIAA1045	23349	broad.mit.edu	37	9	34971297	34971297	+	Start_Codon_SNP	SNP	T	T	A			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:34971297T>A	ENST00000242315.3	+	2	84	c.2T>A	c.(1-3)aTg>aAg	p.M1K	KIAA1045_ENST00000544237.1_Start_Codon_SNP_p.M1K|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	1							metal ion binding (GO:0046872)	p.M1K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAGCCATGGGGGTGTTG	0.542																																					p.M1K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2A	9						.						87.0	92.0	90.0					9																	34971297		2107	4239	6346	34961297	SO:0001582	initiator_codon_variant	23349	exon2			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.2T>A	9.37:g.34971297T>A	ENSP00000242315:p.Met1Lys		34961297	NM_015297	B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	t	24.7	4.561878	0.86335	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	.	.	.	0.38433	D	0.946497	D	0.76494	0.999	D	0.80764	0.994	D	0.84414	0.0567	8	0.87932	D	0	.	15.0841	0.72138	0.0:0.0:0.0:1.0	.	1	Q9UPV7	K1045_HUMAN	K	1	.	ENSP00000242315:M1K	M	+	2	0	KIAA1045	34961297	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.550000	0.82173	2.147000	0.66899	0.533000	0.62120	ATG		0.542	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592	Missense_Mutation
C9orf131	138724	broad.mit.edu	37	9	35045410	35045410	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:35045410C>A	ENST00000312292.5	+	2	2831	c.2784C>A	c.(2782-2784)gtC>gtA	p.V928V	C9orf131_ENST00000354479.5_Silent_p.V855V|C9orf131_ENST00000421362.2_Silent_p.V880V|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	928								p.V928V(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)			AGGTTCTGGTCTCAGGCAAGA	0.532																																					p.V855V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2565A	9						.						133.0	135.0	135.0					9																	35045410		2203	4300	6503	35035410	SO:0001819	synonymous_variant	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.2784C>A	9.37:g.35045410C>A			35035410	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	CCDS6572.2																																																																																				0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
RUSC2	9853	broad.mit.edu	37	9	35555271	35555271	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:35555271C>T	ENST00000455600.1	+	3	2798	c.2229C>T	c.(2227-2229)gtC>gtT	p.V743V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	743						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.V743V(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTCTCAGTCCCAGCTCCCT	0.672																																					p.V743V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2229T	9						.						29.0	33.0	32.0					9																	35555271		2203	4300	6503	35545271	SO:0001819	synonymous_variant	9853	exon3			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2229C>T	9.37:g.35555271C>T			35545271	NM_014806	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	CCDS35008.1																																																																																				0.672	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
CD72	971	broad.mit.edu	37	9	35610743	35610743	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:35610743C>T	ENST00000396757.1	-	9	1122	c.958G>A	c.(958-960)Gct>Act	p.A320T	CD72_ENST00000259633.4_Missense_Mutation_p.A320T|CD72_ENST00000490239.1_5'UTR|MIR4667_ENST00000578933.1_RNA			P21854	CD72_HUMAN	CD72 molecule	320	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.A320T(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCTTTGAGCATAAGTCCTA	0.433																																					p.A320T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G958A	9						.						121.0	101.0	108.0					9																	35610743		2203	4300	6503	35600743	SO:0001583	missense	971	exon8				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.958G>A	9.37:g.35610743C>T	ENSP00000379980:p.Ala320Thr		35600743	NM_001782		Missense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	3.618	-0.078245	0.07184	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.18016	2.24;2.24	4.08	-8.17	0.01057	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	4.335170	0.00763	N	0.001159	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.16289	0.015	T	0.25882	-1.0119	10	0.20519	T	0.43	22.1415	1.2381	0.01957	0.1369:0.2975:0.2062:0.3594	.	320	P21854	CD72_HUMAN	T	320	ENSP00000379980:A320T;ENSP00000259633:A320T	ENSP00000259633:A320T	A	-	1	0	CD72	35600743	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.620000	0.00207	-2.636000	0.00432	-0.742000	0.03525	GCT		0.433	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	
TLN1	7094	broad.mit.edu	37	9	35699390	35699390	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:35699390G>A	ENST00000314888.9	-	51	7190	c.6837C>T	c.(6835-6837)tcC>tcT	p.S2279S	TLN1_ENST00000540444.1_Silent_p.S2167S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2279					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.S2279S(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)			GCTCAGTGACGGAACCAGCCA	0.567																																					p.S2279S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6837T	9						.						150.0	118.0	129.0					9																	35699390		2203	4300	6503	35689390	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.6837C>T	9.37:g.35699390G>A			35689390	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	
RECK	8434	broad.mit.edu	37	9	36121662	36121662	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:36121662G>A	ENST00000377966.3	+	20	3237	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	891					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D891N(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CATTCCCGTCGATCACTATCC	0.453																																					p.D891N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2671A	9						.						205.0	175.0	185.0					9																	36121662		2203	4300	6503	36111662	SO:0001583	missense	8434	exon20			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2671G>A	9.37:g.36121662G>A	ENSP00000367202:p.Asp891Asn		36111662	NM_021111	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969586	0.74246	.	.	ENSG00000122707	ENST00000377966	T	0.42131	0.98	5.66	5.66	0.87406	.	0.054173	0.64402	D	0.000001	T	0.36880	0.0983	L	0.38531	1.155	0.58432	D	0.999999	D;D	0.58970	0.984;0.984	B;B	0.43251	0.413;0.413	T	0.06716	-1.0811	10	0.25106	T	0.35	-21.2466	17.2407	0.87013	0.0:0.0:1.0:0.0	.	891;891	A8K9D8;O95980	.;RECK_HUMAN	N	891	ENSP00000367202:D891N	ENSP00000367202:D891N	D	+	1	0	RECK	36111662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.587000	0.98229	2.658000	0.90341	0.655000	0.94253	GAT		0.453	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1		
FRMPD1	22844	broad.mit.edu	37	9	37707475	37707475	+	Missense_Mutation	SNP	G	G	A	rs139830645	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:37707475G>A	ENST00000539465.1	+	3	757	c.164G>A	c.(163-165)cGa>cAa	p.R55Q	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R55Q			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	55						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R55Q(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ATCCCTGTGCGACACACAGTA	0.507													G|||	15	0.00299521	0.0106	0.0014	5008	,	,		18968	0.0		0.0	False		,,,				2504	0.0				p.R55Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	9						.	G	GLN/ARG	77,4329	67.0+/-104.6	0,77,2126	112.0	113.0	113.0		164	2.5	1.0	9	dbSNP_134	113	0,8600		0,0,4300	yes	missense	FRMPD1	NM_014907.2	43	0,77,6426	AA,AG,GG		0.0,1.7476,0.592	benign	55/1579	37707475	77,12929	2203	4300	6503	37697475	SO:0001583	missense	22844	exon3			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.164G>A	9.37:g.37707475G>A	ENSP00000444411:p.Arg55Gln		37697475	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.28	3.348352	0.61183	0.017476	0.0	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000359927	T;T;T	0.38722	1.12;1.12;1.66	5.97	2.51	0.30379	PDZ/DHR/GLGF (1);	0.298611	0.33438	N	0.004916	T	0.12689	0.0308	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.08055	0.003	T	0.04650	-1.0936	10	0.49607	T	0.09	-4.6826	5.2918	0.15731	0.6086:0.0:0.3914:0.0	.	55	Q5SYB0	FRPD1_HUMAN	Q	55	ENSP00000366995:R55Q;ENSP00000444411:R55Q;ENSP00000439868:R55Q	ENSP00000439868:R55Q	R	+	2	0	FRMPD1	37697475	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	1.301000	0.33447	0.711000	0.32018	0.655000	0.94253	CGA		0.507	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
FRMPD1	22844	broad.mit.edu	37	9	37733737	37733737	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:37733737C>A	ENST00000539465.1	+	12	1726	c.1133C>A	c.(1132-1134)tCt>tAt	p.S378Y	FRMPD1_ENST00000541302.1_Missense_Mutation_p.S247Y|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S200Y|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S378Y			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	378	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S378Y(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CAACTTATTTCTGCTGCCCAG	0.343																																					p.S378Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1133A	9						.						138.0	139.0	139.0					9																	37733737		2203	4300	6503	37723737	SO:0001583	missense	22844	exon12			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1133C>A	9.37:g.37733737C>A	ENSP00000444411:p.Ser378Tyr		37723737	NM_014907	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376052	0.82682	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.16	5.16	0.70880	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	0.124913	0.56097	D	0.000032	D	0.87688	0.6240	M	0.65498	2.005	0.80722	D	1	P;P	0.48589	0.912;0.879	P;P	0.54210	0.745;0.635	D	0.89181	0.3544	10	0.87932	D	0	-14.7429	16.1394	0.81513	0.0:1.0:0.0:0.0	.	247;378	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	Y	378;378;200;247	ENSP00000366995:S378Y;ENSP00000444411:S378Y;ENSP00000437762:S200Y;ENSP00000444804:S247Y	ENSP00000366995:S378Y	S	+	2	0	FRMPD1	37723737	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.373000	0.52394	2.400000	0.81607	0.609000	0.83330	TCT		0.343	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
DCAF10	79269	broad.mit.edu	37	9	37860057	37860057	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:37860057G>A	ENST00000377724.3	+	6	1543	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	DCAF10_ENST00000483167.1_3'UTR|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Missense_Mutation_p.R356Q	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	393					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)		p.R393Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTTTCACCACGAAATAGTCTT	0.438																																					p.R393Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1178A	9						.						111.0	99.0	103.0					9																	37860057		2203	4300	6503	37850057	SO:0001583	missense	79269	exon6			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1178G>A	9.37:g.37860057G>A	ENSP00000366953:p.Arg393Gln		37850057	NM_024345	A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524282	0.85600	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.73469	-0.59;-0.75	5.81	5.81	0.92471	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	L	0.54323	1.7	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.79108	0.947;0.992	T	0.75955	-0.3135	10	0.13108	T	0.6	.	17.5687	0.87928	0.0:0.0:1.0:0.0	.	356;393	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	Q	393;356	ENSP00000366953:R393Q;ENSP00000242323:R356Q	ENSP00000242323:R356Q	R	+	2	0	DCAF10	37850057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.110000	0.94302	2.759000	0.94783	0.591000	0.81541	CGA		0.438	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2	NM_024345	
ZNF658	26149	broad.mit.edu	37	9	40774221	40774221	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:40774221A>C	ENST00000602553.1	-	5	1348	c.1054T>G	c.(1054-1056)Ttt>Gtt	p.F352V	ZNF658_ENST00000441795.1_Missense_Mutation_p.F350V|ZNF658_ENST00000377626.3_Missense_Mutation_p.F352V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	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.F352V(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)		TGTTCACCAAATTTATCTCCA	0.358																																					p.F352V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1054G	9						.						86.0	91.0	89.0					9																	40774221		2202	4280	6482	40764221	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.1054T>G	9.37:g.40774221A>C	ENSP00000473484:p.Phe352Val		40764221	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	a	8.557	0.876798	0.17395	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.14391	2.51;2.51	1.81	-3.62	0.04543	.	.	.	.	.	T	0.05868	0.0153	N	0.12182	0.205	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.001	T	0.34650	-0.9820	9	0.66056	D	0.02	.	1.5643	0.02601	0.2194:0.1835:0.4152:0.1819	.	352;352	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	V	350;352	ENSP00000408462:F350V;ENSP00000366853:F352V	ENSP00000366853:F352V	F	-	1	0	ZNF658	40764221	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	0.149000	0.16243	-1.348000	0.02205	0.315000	0.21342	TTT		0.358	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
PGM5	5239	broad.mit.edu	37	9	71006474	71006474	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:71006474T>G	ENST00000396396.1	+	5	951	c.722T>G	c.(721-723)gTt>gGt	p.V241G	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.V241G	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	241					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.V241G(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTGAGAAAAGTTCTGTGTGAT	0.438																																					p.V241G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T722G	9						.						6.0	6.0	6.0					9																	71006474		1910	3993	5903	70196294	SO:0001583	missense	5239	exon5			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.722T>G	9.37:g.71006474T>G	ENSP00000379678:p.Val241Gly		70196294	NM_021965	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904505	0.52333	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.68479	-0.33;-0.33;-0.33	4.92	4.92	0.64577	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.114545	0.56097	D	0.000022	T	0.69691	0.3139	M	0.83774	2.66	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.71027	-0.4711	10	0.87932	D	0	.	13.5311	0.61623	0.0:0.0:0.0:1.0	.	241	Q15124	PGM5_HUMAN	G	241;241;192;158	ENSP00000379678:V241G;ENSP00000379674:V241G;ENSP00000394864:V158G	ENSP00000366531:V192G	V	+	2	0	PGM5	70196294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.935000	0.87658	1.844000	0.53588	0.454000	0.30748	GTT		0.438	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965	
FAM189A2	9413	broad.mit.edu	37	9	71992598	71992598	+	Silent	SNP	G	G	A	rs562098000		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:71992598G>A	ENST00000257515.8	+	6	852	c.432G>A	c.(430-432)ccG>ccA	p.P144P	FAM189A2_ENST00000455972.1_Silent_p.P144P|FAM189A2_ENST00000303068.7_5'UTR	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	144						integral component of membrane (GO:0016021)		p.P144P(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATTTTGTGCCGCCTGTGCCTC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19018	0.001		0.0	False		,,,				2504	0.0				p.P144P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G432A	9						.						132.0	112.0	118.0					9																	71992598		2203	4300	6503	71182418	SO:0001819	synonymous_variant	9413	exon6			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.432G>A	9.37:g.71992598G>A			71182418	NM_004816	Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Silent	SNP	ENST00000257515.8	37	CCDS6629.1																																																																																				0.532	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816	
TRPM3	80036	broad.mit.edu	37	9	73168150	73168150	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:73168150G>A	ENST00000377111.2	-	22	3507	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	TRPM3_ENST00000358082.3_Silent_p.I950I|TRPM3_ENST00000396292.4_Silent_p.I960I|TRPM3_ENST00000423814.3_Silent_p.I1115I|TRPM3_ENST00000360823.2_Silent_p.I950I|TRPM3_ENST00000377106.1_Silent_p.I960I|TRPM3_ENST00000396280.5_Silent_p.I937I|TRPM3_ENST00000357533.2_Silent_p.I1092I|TRPM3_ENST00000377110.3_Silent_p.I1088I|TRPM3_ENST00000377105.1_Silent_p.I947I|TRPM3_ENST00000408909.2_Silent_p.I947I|TRPM3_ENST00000396285.1_Silent_p.I947I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1113					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.I960I(1)|p.I1092I(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						TGGCCGGCACGATCCAAGCTC	0.532																																					p.I1088I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3264T	9						.						85.0	66.0	72.0					9																	73168150		2203	4300	6503	72357970	SO:0001819	synonymous_variant	80036	exon22			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.3264C>T	9.37:g.73168150G>A			72357970	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	8.535	0.871945	0.17322	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.81	-5.03	0.02973	.	.	.	.	.	T	0.65196	0.2668	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66941	-0.5796	4	.	.	.	-13.48	16.0966	0.81129	0.7022:0.0:0.2978:0.0	.	.	.	.	C	937	.	.	R	-	1	0	TRPM3	72357970	0.056000	0.20664	0.968000	0.41197	0.948000	0.59901	-0.565000	0.05929	-0.788000	0.04504	-0.768000	0.03414	CGT		0.532	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TMEM2	23670	broad.mit.edu	37	9	74315640	74315640	+	Missense_Mutation	SNP	C	C	T	rs548434215	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:74315640C>T	ENST00000377044.4	-	19	3834	c.3295G>A	c.(3295-3297)Gaa>Aaa	p.E1099K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E1036K|TMEM2_ENST00000396272.3_Missense_Mutation_p.E92K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1099					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1099K(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)		TCATATTCTTCGATTTTGGAT	0.428													C|||	2	0.000399361	0.0	0.0	5008	,	,		18903	0.002		0.0	False		,,,				2504	0.0				p.E1099K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3295A	9						.						120.0	110.0	113.0					9																	74315640		2203	4300	6503	73505460	SO:0001583	missense	23670	exon19				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.3295G>A	9.37:g.74315640C>T	ENSP00000366243:p.Glu1099Lys		73505460	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288438	0.80803	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	6.17	6.17	0.99709	.	0.186658	0.56097	D	0.000021	T	0.54382	0.1855	M	0.66297	2.02	0.53005	D	0.999961	P;P	0.49635	0.773;0.926	B;P	0.45310	0.223;0.476	T	0.46317	-0.9200	10	0.22706	T	0.39	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1099;1036	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	1099;1036;92;128	ENSP00000366243:E1099K;ENSP00000366266:E1036K;ENSP00000379569:E92K;ENSP00000366254:E128K	ENSP00000366243:E1099K	E	-	1	0	TMEM2	73505460	0.462000	0.25791	0.868000	0.34077	0.945000	0.59286	3.255000	0.51484	2.941000	0.99782	0.655000	0.94253	GAA		0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
PRUNE2	158471	broad.mit.edu	37	9	79461537	79461537	+	Silent	SNP	G	G	A	rs553816550		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:79461537G>A	ENST00000376718.3	-	4	525	c.402C>T	c.(400-402)agC>agT	p.S134S	PRUNE2_ENST00000376713.3_Silent_p.S134S|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	134					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S134S(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGTTGGCATCGCTCTGCTCAA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18176	0.0		0.0	False		,,,				2504	0.001				p.S134S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C402T	9						.						115.0	112.0	113.0					9																	79461537		2203	4300	6503	78651357	SO:0001819	synonymous_variant	158471	exon4			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.402C>T	9.37:g.79461537G>A			78651357	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79888237	79888237	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:79888237G>T	ENST00000360280.3	+	24	2729	c.2469G>T	c.(2467-2469)caG>caT	p.Q823H	VPS13A_ENST00000376636.3_Missense_Mutation_p.Q823H|VPS13A_ENST00000376634.4_Missense_Mutation_p.Q823H|VPS13A_ENST00000357409.5_Missense_Mutation_p.Q823H	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	823					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.Q823H(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						AGATTTCACAGAAAATAATTC	0.284																																					p.Q823H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2469T	9						.						59.0	64.0	62.0					9																	79888237		2202	4294	6496	79078057	SO:0001583	missense	23230	exon24			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.2469G>T	9.37:g.79888237G>T	ENSP00000353422:p.Gln823His		79078057	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996775	0.35226	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.48201	0.98;0.82;0.89;0.98	5.43	4.34	0.51931	.	1.175070	0.06376	N	0.714394	T	0.59582	0.2204	L	0.54323	1.7	0.80722	D	1	D;P;D;D	0.62365	0.964;0.956;0.991;0.974	P;P;P;P	0.57502	0.75;0.674;0.822;0.758	T	0.51434	-0.8706	10	0.45353	T	0.12	.	9.9643	0.41715	0.1077:0.0:0.8923:0.0	.	823;823;823;823	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	H	823	ENSP00000365821:Q823H;ENSP00000365823:Q823H;ENSP00000353422:Q823H;ENSP00000349985:Q823H	ENSP00000349985:Q823H	Q	+	3	2	VPS13A	79078057	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.399000	0.44495	2.544000	0.85801	0.563000	0.77884	CAG		0.284	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
SPATA31D1	389763	broad.mit.edu	37	9	84609498	84609498	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:84609498A>C	ENST00000344803.2	+	4	4160	c.4113A>C	c.(4111-4113)caA>caC	p.Q1371H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1371					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q1371H(2)									ATGAAGAACAAGAAAGTTCCT	0.418																																					p.Q1371H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4113C	9						.						28.0	25.0	26.0					9																	84609498		1840	4085	5925	83799318	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4113A>C	9.37:g.84609498A>C	ENSP00000341988:p.Gln1371His		83799318	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.758121	0.31137	.	.	ENSG00000214929	ENST00000344803	T	0.08720	3.06	3.13	-0.695	0.11291	.	.	.	.	.	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.44224	0.444	T	0.31251	-0.9950	9	0.66056	D	0.02	-8.3498	2.2062	0.03936	0.5051:0.0:0.2691:0.2258	.	1371	Q6ZQQ2	F75D1_HUMAN	H	1371	ENSP00000341988:Q1371H	ENSP00000341988:Q1371H	Q	+	3	2	FAM75D1	83799318	0.007000	0.16637	0.001000	0.08648	0.003000	0.03518	0.306000	0.19279	-0.133000	0.11537	0.533000	0.62120	CAA		0.418	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
RASEF	158158	broad.mit.edu	37	9	85605307	85605307	+	Splice_Site	SNP	G	G	A	rs189903199		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:85605307G>A	ENST00000376447.3	-	16	2376	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	706					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R706*(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAACTTTACCGAGCAAGGTGC	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18270	0.001		0.0	False		,,,				2504	0.0				p.R706X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.C2116T	9						.						131.0	117.0	121.0					9																	85605307		2203	4300	6503	84795127	SO:0001630	splice_region_variant	158158	exon16			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.2117+1C>T	9.37:g.85605307G>A			84795127	NM_152573	A6NC29|Q96N04	Nonsense_Mutation	SNP	ENST00000376447.3	37	CCDS6662.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	39	7.357333	0.98235	.	.	ENSG00000165105	ENST00000376447	.	.	.	5.73	2.73	0.32206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6287	0.39765	0.0668:0.0:0.6822:0.251	.	.	.	.	X	706	.	ENSP00000365630:R706X	R	-	1	2	RASEF	84795127	1.000000	0.71417	0.968000	0.41197	0.349000	0.29174	3.426000	0.52778	0.738000	0.32606	0.655000	0.94253	CGA		0.383	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573	Nonsense_Mutation
KIF27	55582	broad.mit.edu	37	9	86506359	86506359	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:86506359T>G	ENST00000297814.2	-	6	1803	c.1660A>C	c.(1660-1662)Aaa>Caa	p.K554Q	KIF27_ENST00000334204.2_Missense_Mutation_p.K554Q|KIF27_ENST00000413982.1_Missense_Mutation_p.K554Q|KIF27_ENST00000376347.1_5'Flank	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	554					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K554Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AGGTTAAGTTTTGTTAGTTCT	0.358																																					p.K554Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1660C	9						.						89.0	82.0	85.0					9																	86506359		2203	4298	6501	85696179	SO:0001583	missense	55582	exon6			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1660A>C	9.37:g.86506359T>G	ENSP00000297814:p.Lys554Gln		85696179	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471595	0.63737	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.58358	0.34;0.34;0.34	5.07	5.07	0.68467	.	0.197462	0.34386	N	0.004005	T	0.53674	0.1811	L	0.51422	1.61	0.25545	N	0.98714	P;P;D	0.59767	0.952;0.921;0.986	P;P;P	0.51701	0.677;0.52;0.593	T	0.49698	-0.8912	10	0.33141	T	0.24	.	9.9448	0.41602	0.0:0.0803:0.0:0.9197	.	554;554;554	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	554	ENSP00000297814:K554Q;ENSP00000401688:K554Q;ENSP00000333928:K554Q	ENSP00000297814:K554Q	K	-	1	0	KIF27	85696179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.151000	0.42263	2.134000	0.65973	0.528000	0.53228	AAA		0.358	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
KIF27	55582	broad.mit.edu	37	9	86518334	86518334	+	Nonsense_Mutation	SNP	G	G	A	rs371692315		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:86518334G>A	ENST00000297814.2	-	4	1242	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.R367*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.R367*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	367					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R367*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AAAGCTTCTCGAAGCAATTTA	0.443																																					p.R367X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1099T	9						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	127.0	126.0		1099	4.7	1.0	9		126	0,8600		0,0,4300	no	stop-gained	KIF27	NM_017576.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		367/1402	86518334	1,13005	2203	4300	6503	85708154	SO:0001587	stop_gained	55582	exon4			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1099C>T	9.37:g.86518334G>A	ENSP00000297814:p.Arg367*		85708154	NM_017576	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Nonsense_Mutation	SNP	ENST00000297814.2	37	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	37	6.448000	0.97577	2.27E-4	0.0	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	.	.	.	5.56	4.65	0.58169	.	0.000000	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.3835	0.60783	0.0:0.0:0.7137:0.2863	.	.	.	.	X	367	.	ENSP00000297814:R367X	R	-	1	2	KIF27	85708154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.091000	0.41691	1.317000	0.45149	0.655000	0.94253	CGA		0.443	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576	
SLC28A3	64078	broad.mit.edu	37	9	86917179	86917179	+	Nonsense_Mutation	SNP	G	G	A	rs542312574		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:86917179G>A	ENST00000376238.4	-	5	509	c.460C>T	c.(460-462)Cga>Tga	p.R154*	SLC28A3_ENST00000537648.1_Nonsense_Mutation_p.R85*	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	154					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.R154*(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)	TCATCAATTCGATGTTCGTAT	0.453																																					p.R154X	Ovarian(106;425 1539 34835 42413 43572)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C460T	9						.						121.0	110.0	114.0					9																	86917179		2203	4300	6503	86106999	SO:0001587	stop_gained	64078	exon6			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.460C>T	9.37:g.86917179G>A	ENSP00000365413:p.Arg154*		86106999	NM_022127	A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Nonsense_Mutation	SNP	ENST00000376238.4	37	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653356	0.47362	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	.	.	.	5.33	5.33	0.75918	.	0.745599	0.12769	N	0.440684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-0.8791	11.3464	0.49563	0.0:0.0:0.719:0.281	.	.	.	.	X	154;85	.	ENSP00000365413:R154X	R	-	1	2	SLC28A3	86106999	0.237000	0.23815	0.008000	0.14137	0.007000	0.05969	3.297000	0.51810	2.775000	0.95449	0.655000	0.94253	CGA		0.453	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	
NTRK2	4915	broad.mit.edu	37	9	87339179	87339179	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:87339179A>G	ENST00000323115.4	+	7	1114	c.761A>G	c.(760-762)aAc>aGc	p.N254S	NTRK2_ENST00000395882.1_Missense_Mutation_p.N254S|NTRK2_ENST00000376213.1_Missense_Mutation_p.N254S|NTRK2_ENST00000376208.1_Missense_Mutation_p.N254S|NTRK2_ENST00000277120.3_Missense_Mutation_p.N254S|NTRK2_ENST00000304053.6_Missense_Mutation_p.N254S|NTRK2_ENST00000376214.1_Missense_Mutation_p.N254S|NTRK2_ENST00000359847.3_Missense_Mutation_p.N254S|NTRK2_ENST00000395866.2_Missense_Mutation_p.N98S			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	254	Ig-like C2-type 1.				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.N254S(3)		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)	AGGATAACTAACATTTCATCC	0.398										TSP Lung(25;0.17)																											p.N254S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A761G	9						.						162.0	153.0	156.0					9																	87339179		2203	4300	6503	86528999	SO:0001583	missense	4915	exon8			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.761A>G	9.37:g.87339179A>G	ENSP00000314586:p.Asn254Ser		86528999	NM_001018066	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173949	0.78452	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.28	4.14	0.48551	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098626	0.64402	D	0.000002	T	0.50888	0.1642	L	0.52364	1.645	0.49915	D	0.999833	D;D;D;D;P;P;D;D	0.59357	0.985;0.968;0.968;0.974;0.955;0.944;0.98;0.968	P;P;P;D;P;P;P;P	0.65140	0.814;0.854;0.889;0.932;0.829;0.737;0.834;0.889	T	0.38950	-0.9637	10	0.18276	T	0.48	.	10.7625	0.46272	0.9252:0.0:0.0748:0.0	.	98;254;254;254;254;254;300;254	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	S	254;254;254;254;254;254;254;254;98	ENSP00000365387:N254S;ENSP00000365386:N254S;ENSP00000379221:N254S;ENSP00000365381:N254S;ENSP00000306167:N254S;ENSP00000277120:N254S;ENSP00000314586:N254S;ENSP00000352906:N254S;ENSP00000379207:N98S	ENSP00000277120:N254S	N	+	2	0	NTRK2	86528999	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.986000	0.70563	2.126000	0.65437	0.383000	0.25322	AAC		0.398	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
DAPK1	1612	broad.mit.edu	37	9	90261452	90261452	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:90261452C>T	ENST00000408954.3	+	13	1543	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	DAPK1_ENST00000472284.1_Missense_Mutation_p.S403L|DAPK1_ENST00000469640.2_Missense_Mutation_p.S403L|DAPK1_ENST00000358077.5_Missense_Mutation_p.S403L|DAPK1_ENST00000491893.1_Missense_Mutation_p.S403L	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	403					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.S403L(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAAAGAGGCTCGAGAATCGAT	0.358									Chronic Lymphocytic Leukemia, Familial Clustering of																												p.S403L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1208T	9						.						91.0	85.0	87.0					9																	90261452		1846	4080	5926	89451272	SO:0001583	missense	1612	exon13	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.1208C>T	9.37:g.90261452C>T	ENSP00000386135:p.Ser403Leu		89451272	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441798	0.63067	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.02	4.13	0.48395	Ankyrin repeat-containing domain (4);	0.165128	0.25461	N	0.030519	T	0.12305	0.0299	N	0.21508	0.67	0.41307	D	0.987089	P;B;B	0.49307	0.922;0.0;0.0	B;B;B	0.39185	0.293;0.002;0.001	T	0.06427	-1.0827	10	0.72032	D	0.01	.	13.814	0.63281	0.0:0.9263:0.0:0.0737	.	403;403;403	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	L	403	ENSP00000350785:S403L;ENSP00000417076:S403L;ENSP00000418885:S403L;ENSP00000386135:S403L;ENSP00000419026:S403L	ENSP00000350785:S403L	S	+	2	0	DAPK1	89451272	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.894000	0.75655	1.490000	0.48466	0.655000	0.94253	TCG		0.358	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
NOL8	55035	broad.mit.edu	37	9	95069207	95069207	+	Missense_Mutation	SNP	T	T	G	rs371775904		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:95069207T>G	ENST00000535387.1	-	9	2671	c.2672A>C	c.(2671-2673)aAt>aCt	p.N891T	NOL8_ENST00000442668.2_Missense_Mutation_p.N929T|NOL8_ENST00000542053.1_Missense_Mutation_p.N861T|NOL8_ENST00000358855.4_Missense_Mutation_p.N861T|NOL8_ENST00000545558.1_Missense_Mutation_p.N929T					nucleolar protein 8									p.N929T(1)|p.N931T(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTTTGTAGAATTGCTTAAGTT	0.348																																					p.N929T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2786C	9						.						179.0	175.0	176.0					9																	95069207		1836	4097	5933	94109028	SO:0001583	missense	55035	exon11			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2672A>C	9.37:g.95069207T>G	ENSP00000441300:p.Asn891Thr		94109028	NM_017948		Missense_Mutation	SNP	ENST00000535387.1	37	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	9.722	1.160058	0.21454	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.77	-3.81	0.04294	.	0.779066	0.12678	N	0.448226	T	0.27169	0.0666	L	0.38838	1.175	0.09310	N	0.999997	P;P	0.41978	0.767;0.666	B;B	0.44044	0.439;0.252	T	0.20974	-1.0259	10	0.07813	T	0.8	-8.4161	14.2432	0.65971	0.0:0.5462:0.0:0.4538	.	861;929	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	T	929;893;861;929;891;861;929	ENSP00000401177:N929T;ENSP00000351723:N861T;ENSP00000441140:N929T;ENSP00000441300:N891T;ENSP00000440709:N861T;ENSP00000414112:N929T	ENSP00000351723:N861T	N	-	2	0	NOL8	94109028	0.000000	0.05858	0.005000	0.12908	0.970000	0.65996	-1.662000	0.01970	-0.889000	0.03950	-0.334000	0.08254	AAT		0.348	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948	
OGN	4969	broad.mit.edu	37	9	95148531	95148531	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:95148531T>G	ENST00000262551.4	-	6	1098	c.678A>C	c.(676-678)gaA>gaC	p.E226D	CENPP_ENST00000375587.3_Intron|OGN_ENST00000375561.5_Missense_Mutation_p.E226D	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	226					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.E226D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GAGGCACGGATTCCAGGGCAT	0.368																																					p.E226D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A678C	9						.						197.0	189.0	192.0					9																	95148531		2203	4300	6503	94188352	SO:0001583	missense	4969	exon6			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.678A>C	9.37:g.95148531T>G	ENSP00000262551:p.Glu226Asp		94188352	NM_014057	Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	ENST00000262551.4	37	CCDS6695.1	.	.	.	.	.	.	.	.	.	.	T	5.993	0.367071	0.11352	.	.	ENSG00000106809	ENST00000262551;ENST00000375561	D;D	0.83992	-1.79;-1.79	5.29	0.437	0.16555	.	0.045275	0.85682	D	0.000000	T	0.59142	0.2172	N	0.12422	0.21	0.44454	D	0.997381	B;B	0.20052	0.034;0.041	B;B	0.19391	0.02;0.025	T	0.44667	-0.9313	10	0.06625	T	0.88	.	5.1728	0.15120	0.1256:0.2736:0.0:0.6008	.	284;226	B4DI63;P20774	.;MIME_HUMAN	D	226	ENSP00000262551:E226D;ENSP00000364711:E226D	ENSP00000262551:E226D	E	-	3	2	OGN	94188352	0.989000	0.36119	1.000000	0.80357	0.969000	0.65631	0.127000	0.15790	0.170000	0.19704	0.533000	0.62120	GAA		0.368	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053087.1	NM_024416	
ERCC6L2	375748	broad.mit.edu	37	9	98660163	98660163	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:98660163A>C	ENST00000288985.7	+	3	842	c.537A>C	c.(535-537)aaA>aaC	p.K179N	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.K179N(1)									TTTTGCATAAAAAGGGAACTC	0.343																																					p.K179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A537C	9						.						105.0	114.0	111.0					9																	98660163		2203	4298	6501	97699984	SO:0001583	missense	375748	exon3			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.537A>C	9.37:g.98660163A>C	ENSP00000288985:p.Lys179Asn		97699984	NM_001010895	A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.183769	0.57800	.	.	ENSG00000182150	ENST00000288985	D	0.93189	-3.18	4.83	2.51	0.30379	DEAD-like helicase (2);SNF2-related (1);	0.201870	0.31859	N	0.006945	D	0.94032	0.8088	L	0.50919	1.6	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	D	0.91588	0.5284	10	0.46703	T	0.11	-11.1855	8.2548	0.31748	0.6906:0.0:0.3094:0.0	.	179	Q5T890	RAD26_HUMAN	N	179	ENSP00000288985:K179N	ENSP00000288985:K179N	K	+	3	2	C9orf102	97699984	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.559000	0.45888	0.362000	0.24319	0.459000	0.35465	AAA		0.343	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
ZNF782	158431	broad.mit.edu	37	9	99580476	99580476	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:99580476C>A	ENST00000481138.1	-	6	2490	c.1829G>T	c.(1828-1830)aGa>aTa	p.R610I	ZNF782_ENST00000535338.1_Missense_Mutation_p.R478I|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	610					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.R610I(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGTGTGAGTTCTCTGATGCCC	0.453																																					p.R610I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1829T	9						.						126.0	121.0	123.0					9																	99580476		2203	4300	6503	98620297	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1829G>T	9.37:g.99580476C>A	ENSP00000419397:p.Arg610Ile		98620297	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.09|17.09	3.301194|3.301194	0.60195|0.60195	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338	.|T;T	.|0.02446	.|4.29;4.29	3.06|3.06	2.15|2.15	0.27550|0.27550	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.36628	.|N	.|0.002489	T|T	0.08846|0.08846	0.0219|0.0219	L|L	0.60067|0.60067	1.865|1.865	0.37450|0.37450	D|D	0.914787|0.914787	.|D	.|0.61080	.|0.989	.|D	.|0.65233	.|0.933	T|T	0.09400|0.09400	-1.0676|-1.0676	5|10	.|0.59425	.|D	.|0.04	.|.	8.5101|8.5101	0.33213|0.33213	0.0:0.8787:0.0:0.1213|0.0:0.8787:0.0:0.1213	.|.	.|610	.|Q6ZMW2	.|ZN782_HUMAN	D|I	598|610;478	.|ENSP00000419397:R610I;ENSP00000440624:R478I	.|ENSP00000419397:R610I	E|R	-|-	3|2	2|0	ZNF782|ZNF782	98620297|98620297	0.000000|0.000000	0.05858|0.05858	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	-0.093000|-0.093000	0.11111|0.11111	0.848000|0.848000	0.35191|0.35191	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.453	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
ZNF782	158431	broad.mit.edu	37	9	99581812	99581812	+	Missense_Mutation	SNP	G	G	A	rs137898408		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:99581812G>A	ENST00000481138.1	-	6	1154	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ZNF782_ENST00000535338.1_Missense_Mutation_p.R33C|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	165			R -> H (in dbSNP:rs4645656).		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.R165C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CAAACATTACGCTCATGAGCC	0.433																																					p.R165C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C493T	9						.	G	CYS/ARG	0,4406		0,0,2203	83.0	85.0	84.0		493	-2.7	0.0	9	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF782	NM_001001662.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	165/700	99581812	1,13005	2203	4300	6503	98621633	SO:0001583	missense	158431	exon6			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.493C>T	9.37:g.99581812G>A	ENSP00000419397:p.Arg165Cys		98621633	NM_001001662	B2RNR0	Missense_Mutation	SNP	ENST00000481138.1	37	CCDS35075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.542|6.542	0.468270|0.468270	0.12461|0.12461	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338;ENST00000478850	.|T;T;T	.|0.05855	.|3.55;3.38;6.32	3.38|3.38	-2.74|-2.74	0.05932|0.05932	.|.	.|.	.|.	.|.	.|.	T|T	0.01523|0.01523	0.0049|0.0049	N|N	0.00621|0.00621	-1.32|-1.32	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.47355|0.47355	-0.9124|-0.9124	5|9	.|0.17369	.|T	.|0.5	.|.	4.5855|4.5855	0.12280|0.12280	0.452:0.3186:0.2294:0.0|0.452:0.3186:0.2294:0.0	.|.	.|165	.|Q6ZMW2	.|ZN782_HUMAN	V|C	153|165;33;165	.|ENSP00000419397:R165C;ENSP00000440624:R33C;ENSP00000417577:R165C	.|ENSP00000417577:R165C	A|R	-|-	2|1	0|0	ZNF782|ZNF782	98621633|98621633	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.111000|0.111000	0.19643|0.19643	0.481000|0.481000	0.22260|0.22260	-0.574000|-0.574000	0.05990|0.05990	-0.893000|-0.893000	0.02921|0.02921	GCG|CGT		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
NUTM2G	441457	broad.mit.edu	37	9	99700232	99700232	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:99700232C>A	ENST00000372322.3	+	6	1410	c.1389C>A	c.(1387-1389)ttC>ttA	p.F463L	NUTM2G_ENST00000354649.3_Missense_Mutation_p.F463L|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	463								p.F463L(1)									AGATGGATTTCTTGGCCCTAA	0.577																																					p.F463L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1389A	9						.						54.0	57.0	56.0					9																	99700232		1840	4065	5905	98740053	SO:0001583	missense	441457	exon6				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1389C>A	9.37:g.99700232C>A	ENSP00000361397:p.Phe463Leu		98740053	NM_001045477	A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.205705	0.00292	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.19532	2.14;2.94	1.01	0.0242	0.14140	.	1.630770	0.03760	N	0.258047	T	0.10078	0.0247	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20538	-1.0272	10	0.02654	T	1	.	4.4592	0.11657	0.3741:0.6259:0.0:0.0	.	463	Q5VZR2-2	.	L	463;463;312;344	ENSP00000346670:F463L;ENSP00000361397:F463L	ENSP00000346670:F463L	F	+	3	2	FAM22G	98740053	0.000000	0.05858	0.001000	0.08648	0.099000	0.18886	-0.325000	0.07976	0.025000	0.15241	-0.431000	0.05894	TTC		0.577	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	
HEMGN	55363	broad.mit.edu	37	9	100692500	100692500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:100692500C>A	ENST00000259456.3	-	4	1320	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	393					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.E393*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGTGAATATTCTTCAAGCTGG	0.393																																					p.E393X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1177T	9						.						185.0	196.0	192.0					9																	100692500		2203	4300	6503	99732321	SO:0001587	stop_gained	55363	exon3			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1177G>T	9.37:g.100692500C>A	ENSP00000259456:p.Glu393*		99732321	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Nonsense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616364	0.66672	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.32	0.26	0.15588	.	0.896444	0.09033	U	0.858535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.379	2.8593	0.05582	0.2005:0.4701:0.0:0.3294	.	.	.	.	X	393	.	ENSP00000259456:E393X	E	-	1	0	HEMGN	99732321	0.000000	0.05858	0.011000	0.14972	0.112000	0.19704	-0.138000	0.10374	0.175000	0.19841	0.655000	0.94253	GAA		0.393	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
HEMGN	55363	broad.mit.edu	37	9	100693100	100693100	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:100693100C>T	ENST00000259456.3	-	4	720	c.577G>A	c.(577-579)Gac>Aac	p.D193N		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	193					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)		p.D193N(1)		NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCCTTCATGTCTTGGCATATT	0.378																																					p.D193N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	9						.						274.0	273.0	273.0					9																	100693100		2203	4300	6503	99732921	SO:0001583	missense	55363	exon3			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.577G>A	9.37:g.100693100C>T	ENSP00000259456:p.Asp193Asn		99732921	NM_197978	Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774186	0.49786	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.52	4.52	0.55395	.	0.702006	0.14018	N	0.347002	T	0.50240	0.1604	L	0.56769	1.78	0.09310	N	1	D	0.61697	0.99	P	0.54174	0.744	T	0.38802	-0.9644	9	0.20046	T	0.44	-4.7744	13.183	0.59666	0.0:1.0:0.0:0.0	.	193	Q9BXL5	HEMGN_HUMAN	N	193	.	ENSP00000259456:D193N	D	-	1	0	HEMGN	99732921	0.045000	0.20229	0.142000	0.22268	0.035000	0.12851	2.395000	0.44459	2.260000	0.74910	0.650000	0.86243	GAC		0.378	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
CACNA1B	774	broad.mit.edu	37	9	140991019	140991019	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr9:140991019G>T	ENST00000371372.1	+	37	5323	c.5178G>T	c.(5176-5178)ttG>ttT	p.L1726F	CACNA1B_ENST00000277549.5_Missense_Mutation_p.L920F|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L1727F|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L1725F|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L1726F|CACNA1B_ENST00000371365.2_Missense_Mutation_p.L90F|CACNA1B_ENST00000371363.1_Missense_Mutation_p.L1724F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1726	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.L1726F(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)	CTCACCACTTGGATGAGTTCA	0.547																																					p.L1726F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5178T	9						.						115.0	114.0	114.0					9																	140991019		2114	4259	6373	140110840	SO:0001583	missense	774	exon36			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.5178G>T	9.37:g.140991019G>T	ENSP00000360423:p.Leu1726Phe		140110840	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078602|3.078602	0.55753|0.55753	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000413253|ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	.|D;D;D;D;D;D;D	.|0.98028	.|-4.39;-4.4;-4.67;-4.38;-4.37;-4.38;-4.51	4.44|4.44	1.53|1.53	0.23141|0.23141	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	.|D	.|0.98021	.|0.9348	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.996;0.996	.|D	.|0.95493	.|0.8571	.|10	.|0.87932	.|D	.|0	.|.	1.84|1.84	0.03147|0.03147	0.1573:0.1355:0.4314:0.2757|0.1573:0.1355:0.4314:0.2757	.|.	.|1725;1724	.|B1AQK7;B1AQK6	.|.;.	X|F	91|1726;1726;920;1724;1725;1727;90	.|ENSP00000360423:L1726F;ENSP00000277551:L1726F;ENSP00000277549:L920F;ENSP00000360414:L1724F;ENSP00000360408:L1725F;ENSP00000360406:L1727F;ENSP00000360416:L90F	.|ENSP00000277549:L920F	G|L	+|+	1|3	0|2	CACNA1B|CACNA1B	140110840|140110840	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.973000|0.973000	0.67179|0.67179	0.587000|0.587000	0.23909|0.23909	0.098000|0.098000	0.17522|0.17522	-0.262000|-0.262000	0.10625|0.10625	GGA|TTG		0.547	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
NALCN	259232	broad.mit.edu	37	13	102030979	102030979	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:102030979C>T	ENST00000251127.6	-	4	398	c.317G>A	c.(316-318)cGc>cAc	p.R106H	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.R106H|NALCN_ENST00000376196.3_Missense_Mutation_p.R106H	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	106					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.R106H(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)					AACACACCAGCGATCTTTCAC	0.323																																					p.R106H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	13						.						97.0	101.0	99.0					13																	102030979		2203	4299	6502	100828980	SO:0001583	missense	259232	exon4			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.317G>A	13.37:g.102030979C>T	ENSP00000251127:p.Arg106His		100828980	NM_052867	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895864	0.52121	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98455	-4.94;-4.94;-4.94	5.57	5.57	0.84162	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95658	0.8588	L	0.27053	0.805	0.80722	D	1	P;B	0.40931	0.733;0.391	B;B	0.38020	0.263;0.189	D	0.95039	0.8176	10	0.30854	T	0.27	.	19.5302	0.95226	0.0:1.0:0.0:0.0	.	106;106	F2Z323;Q8IZF0	.;NALCN_HUMAN	H	106	ENSP00000251127:R106H;ENSP00000365367:R106H;ENSP00000365373:R106H	ENSP00000251127:R106H	R	-	2	0	NALCN	100828980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.351000	0.79395	2.633000	0.89246	0.591000	0.81541	CGC		0.323	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
ERCC5	2073	broad.mit.edu	37	13	103510633	103510633	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:103510633C>A	ENST00000355739.4	+	6	1960	c.537C>A	c.(535-537)ttC>ttA	p.F179L	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.L605I|ERCC5_ENST00000535557.1_Missense_Mutation_p.F179L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	179					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.F179L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGAAGAGTTCTTTCATAATC	0.338			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.F179L		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C537A	13						.						82.0	83.0	82.0					13																	103510633		2203	4300	6503	102308634	SO:0001583	missense	2073	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.537C>A	13.37:g.103510633C>A	ENSP00000347978:p.Phe179Leu		102308634	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874165	0.33069	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	T;T	0.19806	2.12;2.12	5.31	4.45	0.53987	.	0.189959	0.47093	D	0.000242	T	0.11836	0.0288	L	0.35723	1.085	0.38723	D	0.953491	B;P;P	0.43826	0.087;0.818;0.671	B;B;B	0.37650	0.057;0.255;0.134	T	0.17319	-1.0373	10	0.11182	T	0.66	-11.3097	4.2693	0.10778	0.2102:0.5767:0.1312:0.0819	.	179;179;604	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	L	604;179;179;11	ENSP00000347978:F179L;ENSP00000442117:F179L	ENSP00000347978:F179L	F	+	3	2	ERCC5	102308634	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.515000	0.22801	1.199000	0.43173	0.655000	0.94253	TTC		0.338	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
ARGLU1	55082	broad.mit.edu	37	13	107196474	107196474	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:107196474C>A	ENST00000400198.3	-	4	936	c.692G>T	c.(691-693)aGa>aTa	p.R231I	ARGLU1_ENST00000472226.1_5'UTR|ARGLU1_ENST00000375926.1_Missense_Mutation_p.R100I	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	231	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R231I(1)		large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ATGAATCTTTCTTTGTTCTTC	0.338																																					p.R231I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692T	13						.						130.0	117.0	121.0					13																	107196474		1813	4068	5881	105994475	SO:0001583	missense	55082	exon4			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.692G>T	13.37:g.107196474C>A	ENSP00000383059:p.Arg231Ile		105994475	NM_018011	B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	ENST00000400198.3	37	CCDS41906.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319921	0.81469	.	.	ENSG00000134884	ENST00000400198;ENST00000375926	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.79475	2.455	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	D	0.84226	0.0464	9	0.87932	D	0	-3.044	19.8476	0.96716	0.0:1.0:0.0:0.0	.	231	Q9NWB6	ARGL1_HUMAN	I	231;100	.	ENSP00000365092:R100I	R	-	2	0	ARGLU1	105994475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.372000	0.79612	2.704000	0.92352	0.650000	0.86243	AGA		0.338	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045727.1	NM_018011	
CARS2	79587	broad.mit.edu	37	13	111290841	111290841	+	IGR	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:111290841T>G	ENST00000257347.4	-	0	1879				CARKD_ENST00000424185.2_Missense_Mutation_p.V227G|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000309957.2_Silent_p.G382G|CARKD_ENST00000458711.2_Missense_Mutation_p.V206G	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)	p.G382G(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ATCGCCGAGGTGGGGGCCGCC	0.617																																					p.G382G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1146G	13						.						38.0	42.0	41.0					13																	111290841		2203	4300	6503	110088842	SO:0001628	intergenic_variant	55739	exon10			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347		13.37:g.111290841T>G			110088842	NM_018210	Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670286	0.67814	.	.	ENSG00000213995	ENST00000458711;ENST00000424185	T;T	0.24723	1.84;1.84	5.4	5.4	0.78164	Uncharacterised domain, carbohydrate kinase-related (1);	.	.	.	.	T	0.48857	0.1523	.	.	.	0.80722	D	1	D;D;D	0.62365	0.991;0.984;0.958	P;P;D	0.65573	0.834;0.891;0.936	T	0.46992	-0.9151	7	.	.	.	-0.0192	15.423	0.75028	0.0:0.0:0.0:1.0	.	206;227;337	B4DQR1;Q8IW45-4;Q8IW45	.;.;CARKD_HUMAN	G	206;227	ENSP00000412789:V206G;ENSP00000413191:V227G	.	V	+	2	0	CARKD	110088842	1.000000	0.71417	0.004000	0.12327	0.479000	0.33129	7.555000	0.82223	2.039000	0.60335	0.459000	0.35465	GTG		0.617	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537	
TUBGCP3	10426	broad.mit.edu	37	13	113143948	113143948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:113143948C>A	ENST00000261965.3	-	21	2698	c.2512G>T	c.(2512-2514)Gaa>Taa	p.E838*		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	838					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E838*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GGTATAGATTCTTTAAATTCT	0.438																																					p.E838X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2512T	13						.						270.0	239.0	250.0					13																	113143948		2203	4300	6503	112191949	SO:0001587	stop_gained	10426	exon21			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2512G>T	13.37:g.113143948C>A	ENSP00000261965:p.Glu838*		112191949	NM_006322	O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	ENST00000261965.3	37	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	40	8.046176	0.98627	.	.	ENSG00000126216	ENST00000261965	.	.	.	5.25	5.25	0.73442	.	0.257370	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-18.7016	18.9187	0.92516	0.0:1.0:0.0:0.0	.	.	.	.	X	838	.	ENSP00000261965:E838X	E	-	1	0	TUBGCP3	112191949	1.000000	0.71417	0.117000	0.21633	0.084000	0.17831	6.912000	0.75753	2.469000	0.83416	0.549000	0.68633	GAA		0.438	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
ATP11A	23250	broad.mit.edu	37	13	113536359	113536359	+	3'UTR	SNP	G	G	A	rs563595559		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:113536359G>A	ENST00000487903.1	+	0	3735				ATP11A_ENST00000375630.2_Missense_Mutation_p.R1186H|ATP11A_ENST00000375645.3_3'UTR			P98196	AT11A_HUMAN	ATPase, class VI, type 11A						phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1186H(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTAGGTCCCGTGTGGGAATG	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19402	0.0		0.0	False		,,,				2504	0.0				p.R1186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3557A	13						.						198.0	179.0	185.0					13																	113536359		2203	4300	6503	112584360	SO:0001624	3_prime_UTR_variant	23250	exon29			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.*242G>A	13.37:g.113536359G>A			112584360	NM_032189	Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	9.430	1.085345	0.20390	.	.	ENSG00000068650	ENST00000375630;ENST00000419631	T;T	0.43688	0.94;1.93	3.43	0.613	0.17597	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	B	0.28055	0.199	B	0.19666	0.026	T	0.14227	-1.0480	9	0.42905	T	0.14	.	4.871	0.13633	0.1869:0.0:0.6472:0.1659	.	1186	E9PEJ6	.	H	1186;178	ENSP00000364781:R1186H;ENSP00000410824:R178H	ENSP00000364781:R1186H	R	+	2	0	ATP11A	112584360	0.490000	0.26012	0.000000	0.03702	0.000000	0.00434	1.776000	0.38594	-0.171000	0.10797	-1.734000	0.00692	CGT		0.637	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
ZMYM2	7750	broad.mit.edu	37	13	20656206	20656206	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:20656206C>T	ENST00000382874.2	+	23	3694	c.3504C>T	c.(3502-3504)taC>taT	p.Y1168Y	ZMYM2_ENST00000382871.2_Silent_p.Y1168Y|ZMYM2_ENST00000382869.3_Silent_p.Y1168Y|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.Y1168Y(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATCCTGGATACCAAACATTTG	0.338																																					p.Y1168Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3504T	13						.						56.0	52.0	53.0					13																	20656206		1809	4077	5886	19554206	SO:0001819	synonymous_variant	7750	exon22			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3504C>T	13.37:g.20656206C>T			19554206	NM_197968	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																				0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
ZMYM2	7750	broad.mit.edu	37	13	20657133	20657133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:20657133C>T	ENST00000382874.2	+	24	3971	c.3781C>T	c.(3781-3783)Cga>Tga	p.R1261*	ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1261*|ZMYM2_ENST00000382869.3_Nonsense_Mutation_p.R1261*|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)	p.R1261*(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGCGTGTCTTCGATACCAAGT	0.338																																					p.R1261X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3781T	13						.						69.0	64.0	65.0					13																	20657133		1851	4099	5950	19555133	SO:0001587	stop_gained	7750	exon23			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3781C>T	13.37:g.20657133C>T	ENSP00000372327:p.Arg1261*		19555133	NM_197968	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Nonsense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	43	10.432931	0.99404	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	.	.	.	5.0	4.15	0.48705	.	0.212247	0.43747	D	0.000531	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4688	13.4861	0.61366	0.2844:0.7156:0.0:0.0	.	.	.	.	X	1261;1261;1259;1259;639	.	ENSP00000372322:R1261X	R	+	1	2	ZMYM2	19555133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.776000	0.47709	1.209000	0.43321	0.484000	0.47621	CGA		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
PARP4	143	broad.mit.edu	37	13	25072367	25072368	+	Splice_Site	DNP	CC	CC	AA			TCGA-AG-3892-01	TCGA-AG-3892-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:25072367_25072368CC>AA	ENST00000381989.3	-	6	583	c.478_478GG>TT	c.(478-480)GGgt>TTggt	p.G160L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	160					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.?(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)		TCCATTCCCACCTGGAAAACAG	0.46																																					.												.	.	1	Unknown(1)	large_intestine(1)	c.478_478TT	13						.																																			23970368	SO:0001630	splice_region_variant	143	exon6			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.478_478delinsAA	13.37:g.25072367_25072368delinsAA			23970367	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Splice_Site	DNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.460	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	Missense_Mutation
ATP12A	479	broad.mit.edu	37	13	25280568	25280568	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:25280568G>T	ENST00000381946.3	+	15	2303	c.2136G>T	c.(2134-2136)caG>caT	p.Q712H	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Missense_Mutation_p.Q718H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	712					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.Q712H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCCCCAGCAGAAGCTGATCA	0.562																																					p.Q718H	Pancreas(156;1582 1935 18898 22665 26498)											ATP12A,central_nervous_system,brain,Substitution - Missense,+2	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2154T	13						.						97.0	75.0	83.0					13																	25280568		2203	4300	6503	24178568	SO:0001583	missense	479	exon15			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2136G>T	13.37:g.25280568G>T	ENSP00000371372:p.Gln712His		24178568	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544556	0.65198	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96232	-3.95;-3.95	5.79	3.0	0.34707	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.95968	0.8687	L	0.37630	1.12	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94717	0.7897	10	0.87932	D	0	.	7.8015	0.29176	0.3528:0.0:0.6472:0.0	.	718;712	P54707-2;P54707	.;AT12A_HUMAN	H	718;712	ENSP00000218548:Q718H;ENSP00000371372:Q712H	ENSP00000218548:Q718H	Q	+	3	2	ATP12A	24178568	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.214000	0.42853	0.723000	0.32274	0.563000	0.77884	CAG		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
RNF17	56163	broad.mit.edu	37	13	25367460	25367460	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:25367460G>T	ENST00000255324.5	+	10	1268	c.1216G>T	c.(1216-1218)Gaa>Taa	p.E406*	RNF17_ENST00000255325.6_Nonsense_Mutation_p.E406*|RNF17_ENST00000381921.1_Nonsense_Mutation_p.E406*|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	406					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E406*(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATAATTGAAGAAATTATTGA	0.393																																					p.E406X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1216T	13						.						124.0	122.0	122.0					13																	25367460		2203	4300	6503	24265460	SO:0001587	stop_gained	56163	exon10			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1216G>T	13.37:g.25367460G>T	ENSP00000255324:p.Glu406*		24265460	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Nonsense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	37	6.037815	0.97226	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	.	.	.	5.29	5.29	0.74685	.	0.099000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	15.9521	0.79846	0.0:0.0:1.0:0.0	.	.	.	.	X	406;406;265;407;406	.	ENSP00000255324:E406X	E	+	1	0	RNF17	24265460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.890000	0.69774	2.755000	0.94549	0.650000	0.86243	GAA		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
RNF17	56163	broad.mit.edu	37	13	25416221	25416221	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:25416221C>A	ENST00000255324.5	+	19	2577	c.2525C>A	c.(2524-2526)tCt>tAt	p.S842Y	RNF17_ENST00000381921.1_Missense_Mutation_p.S842Y|RNF17_ENST00000339524.3_5'Flank	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	842					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S842Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTTCGATTCTCTTGGTGCT	0.338																																					p.S842Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2525A	13						.						158.0	150.0	153.0					13																	25416221		2203	4300	6503	24314221	SO:0001583	missense	56163	exon19			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2525C>A	13.37:g.25416221C>A	ENSP00000255324:p.Ser842Tyr		24314221	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554032	0.27739	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.32023	1.47;1.47;1.47	5.29	4.39	0.52855	Staphylococcal nuclease (SNase-like) (1);	0.445478	0.22567	N	0.058400	T	0.24890	0.0604	L	0.29908	0.895	0.39868	D	0.973469	P;P;P	0.52170	0.926;0.587;0.951	P;B;P	0.45829	0.459;0.412;0.494	T	0.05582	-1.0876	10	0.62326	D	0.03	-8.1665	7.4939	0.27477	0.0:0.742:0.1626:0.0954	.	842;842;842	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	Y	842;842;701;166	ENSP00000255324:S842Y;ENSP00000371346:S842Y;ENSP00000388892:S166Y	ENSP00000255324:S842Y	S	+	2	0	RNF17	24314221	0.034000	0.19679	0.689000	0.30133	0.103000	0.19146	0.168000	0.16622	1.257000	0.44085	0.585000	0.79938	TCT		0.338	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
ATP8A2	51761	broad.mit.edu	37	13	26106445	26106445	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:26106445G>T	ENST00000381655.2	+	5	598	c.456G>T	c.(454-456)aaG>aaT	p.K152N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.K112N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	112					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.K152N(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)		TTAACAAAAAGAAAACAATAG	0.323																																					p.K152N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G456T	13						.						93.0	82.0	86.0					13																	26106445		1817	4074	5891	25004445	SO:0001583	missense	51761	exon5			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.456G>T	13.37:g.26106445G>T	ENSP00000371070:p.Lys152Asn		25004445	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520532	0.85495	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	T;T	0.76709	-1.04;-1.04	5.73	5.73	0.89815	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.048444	0.85682	D	0.000000	D	0.86577	0.5966	M	0.62723	1.935	0.58432	D	0.999998	D;D;D	0.65815	0.985;0.995;0.985	P;D;P	0.66979	0.889;0.948;0.889	D	0.85520	0.1203	10	0.46703	T	0.11	.	19.492	0.95054	0.0:0.0:1.0:0.0	.	112;112;112	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	N	152;112;112	ENSP00000371070:K152N;ENSP00000255283:K112N	ENSP00000255283:K112N	K	+	3	2	ATP8A2	25004445	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.347000	0.73004	2.702000	0.92279	0.643000	0.83706	AAG		0.323	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
ATP8A2	51761	broad.mit.edu	37	13	26402264	26402264	+	Silent	SNP	C	C	T	rs201549197		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:26402264C>T	ENST00000381655.2	+	28	2830	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	856					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.F896F(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)		AGCTTTGGTTCGCCTTTGTTA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		19955	0.0		0.001	False		,,,				2504	0.0				p.F896F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2688T	13						.	C		0,3716		0,0,1858	267.0	239.0	248.0		2688	3.2	1.0	13		248	1,8205		0,1,4102	no	coding-synonymous	ATP8A2	NM_016529.4		0,1,5960	TT,TC,CC		0.0122,0.0,0.0084		896/1189	26402264	1,11921	1858	4103	5961	25300264	SO:0001819	synonymous_variant	51761	exon28			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.2688C>T	13.37:g.26402264C>T			25300264	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																				0.403	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
MTIF3	219402	broad.mit.edu	37	13	28009314	28009314	+	IGR	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:28009314G>T	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Missense_Mutation_p.K306N			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTGACAAGAAGAAAATGAAGC	0.343																																					p.K306N												.	.	0			c.G918T	13						.						125.0	110.0	115.0					13																	28009314		1568	3582	5150	26907314	SO:0001628	intergenic_variant	2971	exon8			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009314G>T			26907314	NM_002097	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617744	0.46736	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	T;T	0.10005	2.92;3.06	4.94	3.17	0.36434	Zinc finger, C2H2 (1);	0.172827	0.64402	D	0.000008	T	0.14917	0.0360	L	0.61218	1.895	0.40900	D	0.984145	P;P	0.44877	0.835;0.845	P;B	0.45232	0.474;0.368	T	0.17930	-1.0353	9	0.66056	D	0.02	-10.5848	8.9276	0.35650	0.2748:0.0:0.7252:0.0	.	281;306	Q92664-2;Q92664	.;TF3A_HUMAN	N	306;119	ENSP00000370532:K306N;ENSP00000393050:K119N	ENSP00000370532:K306N	K	+	3	2	GTF3A	26907314	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.759000	0.38420	1.225000	0.43566	0.650000	0.86243	AAG		0.343	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912	
KATNAL1	84056	broad.mit.edu	37	13	30784544	30784544	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:30784544G>A	ENST00000380615.3	-	10	1350	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	KATNAL1_ENST00000380617.3_Missense_Mutation_p.R395C	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.R395C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TCGACCTCACGAAGGTTGATC	0.373																																					p.R395C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183T	13						.						168.0	158.0	161.0					13																	30784544		2203	4300	6503	29682544	SO:0001583	missense	84056	exon10			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.1183C>T	13.37:g.30784544G>A	ENSP00000369989:p.Arg395Cys		29682544	NM_032116		Missense_Mutation	SNP	ENST00000380615.3	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935294	0.52866	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.95205	-3.64;-3.64	5.77	4.9	0.64082	.	0.106600	0.64402	D	0.000012	D	0.95027	0.8390	M	0.92077	3.27	0.80722	D	1	B	0.33238	0.403	B	0.23852	0.049	D	0.94308	0.7543	10	0.72032	D	0.01	-19.013	15.8114	0.78568	0.0:0.0:0.8629:0.137	.	395	Q9BW62	KATL1_HUMAN	C	395	ENSP00000369989:R395C;ENSP00000369991:R395C	ENSP00000369989:R395C	R	-	1	0	KATNAL1	29682544	1.000000	0.71417	0.773000	0.31616	0.942000	0.58702	6.107000	0.71517	1.367000	0.46095	0.655000	0.94253	CGT		0.373	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	
FRY	10129	broad.mit.edu	37	13	32705849	32705849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:32705849G>T	ENST00000380250.3	+	8	1253	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	253						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E253*(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)		GGAGCTAAAAGAATTACGGCA	0.383																																					p.E253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G757T	13						.						110.0	102.0	104.0					13																	32705849		1828	4085	5913	31603849	SO:0001587	stop_gained	10129	exon8			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.757G>T	13.37:g.32705849G>T	ENSP00000369600:p.Glu253*		31603849	NM_023037	Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	43	10.522614	0.99421	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	.	.	.	X	253;181	.	ENSP00000267067:E181X	E	+	1	0	FRY	31603849	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.696000	0.92011	0.650000	0.86243	GAA		0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32826038	32826038	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:32826038A>G	ENST00000380250.3	+	50	7690	c.7194A>G	c.(7192-7194)gtA>gtG	p.V2398V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2398						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V2398V(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)		AGAAGTTGGTACATGTCCTTT	0.393																																					p.V2398V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A7194G	13						.						218.0	206.0	210.0					13																	32826038		1864	4106	5970	31724038	SO:0001819	synonymous_variant	10129	exon50			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.7194A>G	13.37:g.32826038A>G			31724038	NM_023037	Q9Y3N6	Silent	SNP	ENST00000380250.3	37	CCDS41875.1																																																																																				0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
BRCA2	675	broad.mit.edu	37	13	32906578	32906578	+	Missense_Mutation	SNP	A	A	C	rs276174927		TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:32906578A>C	ENST00000380152.3	+	10	1196	c.963A>C	c.(961-963)caA>caC	p.Q321H	BRCA2_ENST00000544455.1_Missense_Mutation_p.Q321H			P51587	BRCA2_HUMAN	breast cancer 2, early onset	321					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Q321H(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAATCTACAAAAAGTAAGAA	0.289			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.Q321H	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A963C	13						.						49.0	55.0	53.0					13																	32906578		2203	4296	6499	31804578	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.963A>C	13.37:g.32906578A>C	ENSP00000369497:p.Gln321His		31804578	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	5.773	0.327017	0.10900	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00966	5.49;5.49	5.07	-0.0936	0.13648	.	0.761042	0.11606	N	0.547278	T	0.00998	0.0033	L	0.46157	1.445	0.09310	N	1	B;P	0.51351	0.221;0.944	B;B	0.39027	0.07;0.288	T	0.51180	-0.8738	10	0.66056	D	0.02	.	4.9252	0.13889	0.4228:0.1786:0.3986:0.0	.	321;321	P51587;A1YBP1	BRCA2_HUMAN;.	H	321;321;319	ENSP00000369497:Q321H;ENSP00000439902:Q321H	ENSP00000369497:Q321H	Q	+	3	2	BRCA2	31804578	0.899000	0.30636	0.000000	0.03702	0.003000	0.03518	0.279000	0.18771	-0.136000	0.11475	-0.256000	0.11100	CAA		0.289	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
N4BP2L1	90634	broad.mit.edu	37	13	32972801	32972801	+	IGR	SNP	G	G	A	rs80358397		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:32972801G>A	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Missense_Mutation_p.R3384Q|BRCA2_ENST00000380152.3_Missense_Mutation_p.R3384Q	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.R3384Q(2)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGACTGAAACGACGTTGTACT	0.398																																					p.R3384Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10151A	13						.						73.0	72.0	72.0					13																	32972801		2203	4300	6503	31870801	SO:0001628	intergenic_variant	675	exon27			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972801G>A			31870801	NM_000059	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653510	0.47362	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00745	5.75;5.75	5.6	2.92	0.33932	.	0.946366	0.08847	N	0.884960	T	0.00906	0.0030	L	0.60455	1.87	0.09310	N	1	P	0.49961	0.93	B	0.30943	0.122	T	0.53982	-0.8361	10	0.40728	T	0.16	.	7.8806	0.29621	0.2644:0.0:0.7356:0.0	.	3384	P51587	BRCA2_HUMAN	Q	3384	ENSP00000369497:R3384Q;ENSP00000439902:R3384Q	ENSP00000369497:R3384Q	R	+	2	0	BRCA2	31870801	0.002000	0.14202	0.003000	0.11579	0.009000	0.06853	1.144000	0.31565	0.736000	0.32559	0.655000	0.94253	CGA		0.398	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818	
N4BP2L1	90634	broad.mit.edu	37	13	32978388	32978388	+	Intron	SNP	C	C	A	rs372468111		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:32978388C>A	ENST00000380133.2	-	4	524				N4BP2L1_ENST00000459716.1_Intron|N4BP2L1_ENST00000530622.2_Intron|N4BP2L1_ENST00000380130.2_Intron|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.K139N			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.K139N(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TGAAAAGATTCTTTTGTTCGG	0.348																																					p.K139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G417T	13						.						86.0	85.0	85.0					13																	32978388		2203	4300	6503	31876388	SO:0001627	intron_variant	90634	exon4			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.473+69G>T	13.37:g.32978388C>A			31876388	NM_001079691	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427931	0.62733	.	.	ENSG00000139597	ENST00000380139	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	P	0.39940	0.696	B	0.43838	0.433	T	0.51687	-0.8674	7	0.39692	T	0.17	.	8.8985	0.35479	0.0:0.8673:0.0:0.1327	.	139	Q5TBK1-2	.	N	139	.	ENSP00000369484:K139N	K	-	3	2	N4BP2L1	31876388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.017000	0.29989	2.639000	0.89480	0.655000	0.94253	AAG		0.348	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818	
N4BP2L2	10443	broad.mit.edu	37	13	33018029	33018029	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:33018029G>A	ENST00000504114.1	-	6	691	c.600C>T	c.(598-600)gtC>gtT	p.V200V	N4BP2L2_ENST00000399396.3_Silent_p.V215V|N4BP2L2_ENST00000357505.6_Silent_p.V200V|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.V215V(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CAAAATCTCCGACTTCATTTT	0.373																																					p.V215V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645T	13						.						63.0	56.0	58.0					13																	33018029		1815	4072	5887	31916029	SO:0001819	synonymous_variant	10443	exon7			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.600C>T	13.37:g.33018029G>A			31916029	NM_033111	A3KME8	Silent	SNP	ENST00000504114.1	37																																																																																					0.373	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887	
N4BP2L2	10443	broad.mit.edu	37	13	33110502	33110502	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:33110502C>A	ENST00000267068.3	-	2	827	c.663G>T	c.(661-663)aaG>aaT	p.K221N	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.K221N	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	221					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.K221N(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TAAGATCTTTCTTTTCTTCAT	0.353																																					p.K221N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G663T	13						.						88.0	85.0	86.0					13																	33110502		2203	4299	6502	32008502	SO:0001583	missense	10443	exon2			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.663G>T	13.37:g.33110502C>A	ENSP00000267068:p.Lys221Asn		32008502	NM_014887	A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	C	9.541	1.113314	0.20795	.	.	ENSG00000244754	ENST00000446957;ENST00000505213;ENST00000267068	T;T;T	0.45668	0.89;0.89;0.89	5.58	1.64	0.23874	.	.	.	.	.	T	0.30230	0.0758	L	0.47716	1.5	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.33214	-0.9877	9	0.46703	T	0.11	-6.1708	1.1969	0.01877	0.3817:0.2913:0.1001:0.2269	.	221;221	D6R968;Q92802	.;N42L2_HUMAN	N	221	ENSP00000394239:K221N;ENSP00000423362:K221N;ENSP00000267068:K221N	ENSP00000267068:K221N	K	-	3	2	N4BP2L2	32008502	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-0.533000	0.06157	-0.008000	0.14320	0.563000	0.77884	AAG		0.353	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887	
NBEA	26960	broad.mit.edu	37	13	35747658	35747658	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:35747658G>A	ENST00000400445.3	+	27	5015	c.4481G>A	c.(4480-4482)gGa>gAa	p.G1494E	NBEA_ENST00000379939.2_Missense_Mutation_p.G1491E|NBEA_ENST00000540320.1_Missense_Mutation_p.G1494E|NBEA_ENST00000310336.4_Missense_Mutation_p.G1494E	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1494					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.G1494E(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)		AGAGACAGGGGAAATAAATCT	0.358																																					p.G1494E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4481A	13						.						75.0	75.0	75.0					13																	35747658		1842	4094	5936	34645658	SO:0001583	missense	26960	exon27			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.4481G>A	13.37:g.35747658G>A	ENSP00000383295:p.Gly1494Glu		34645658	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829621	0.50845	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.71	4.79	0.61399	.	0.269071	0.36815	N	0.002396	T	0.35566	0.0936	L	0.42245	1.32	0.80722	D	1	P;B	0.35433	0.501;0.228	B;B	0.25140	0.058;0.045	T	0.16041	-1.0416	10	0.30078	T	0.28	.	13.3848	0.60789	0.0:0.0:0.7635:0.2365	.	1494;1491	Q8NFP9;Q5T321	NBEA_HUMAN;.	E	1494;1494;1491;1494;153	ENSP00000440951:G1494E;ENSP00000383295:G1494E;ENSP00000369271:G1491E;ENSP00000308534:G1494E	ENSP00000308534:G1494E	G	+	2	0	NBEA	34645658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.398000	0.52579	2.699000	0.92147	0.650000	0.86243	GGA		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
SPG20	23111	broad.mit.edu	37	13	36903630	36903630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:36903630C>A	ENST00000451493.1	-	4	1250	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	SPG20_ENST00000494062.2_Nonsense_Mutation_p.E345*|SPG20_ENST00000438666.2_Nonsense_Mutation_p.E345*|SPG20_ENST00000355182.4_Nonsense_Mutation_p.E345*|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	345					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.E345*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AATTCATTTTCTTCTTCTGCT	0.408																																					p.E345X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1033T	13						.						160.0	151.0	154.0					13																	36903630		2203	4300	6503	35801630	SO:0001587	stop_gained	23111	exon4			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1033G>T	13.37:g.36903630C>A	ENSP00000414147:p.Glu345*		35801630	NM_001142295	O60349|Q86Y67|Q9H1T2|Q9H1T3	Nonsense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249640	0.98164	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.36	5.36	0.76844	.	0.767593	0.12595	N	0.455266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-31.1429	14.5523	0.68075	0.0:1.0:0.0:0.0	.	.	.	.	X	345	.	ENSP00000347314:E345X	E	-	1	0	SPG20	35801630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.976000	0.40579	2.504000	0.84457	0.585000	0.79938	GAA		0.408	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
SMAD9	4093	broad.mit.edu	37	13	37453773	37453773	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:37453773C>T	ENST00000399275.2	-	1	193	c.54G>A	c.(52-54)gtG>gtA	p.V18V	SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000379826.4_Silent_p.V18V|SMAD9_ENST00000350148.5_Silent_p.V18V			O15198	SMAD9_HUMAN	SMAD family member 9	18	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.V18V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCAGTCTCTTCACTGCGGGGC	0.572																																					p.V18V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G54A	13						.						57.0	62.0	60.0					13																	37453773		2203	4300	6503	36351773	SO:0001819	synonymous_variant	4093	exon2				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.54G>A	13.37:g.37453773C>T			36351773	NM_005905	A2A2Y6|O14989|Q5TBA1	Silent	SNP	ENST00000399275.2	37	CCDS45032.1																																																																																				0.572	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905	
TRPC4	7223	broad.mit.edu	37	13	38225390	38225390	+	Intron	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:38225390C>T	ENST00000379705.3	-	8	2937				TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379681.3_Silent_p.Q697Q|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						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.Q697Q(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)		TACTAACATGCTGTGTTCTTA	0.338																																					p.Q697Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2091A	13						.						113.0	110.0	111.0					13																	38225390		2203	4300	6503	37123390	SO:0001627	intron_variant	7223	exon8			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.2079+11G>A	13.37:g.38225390C>T			37123390	NM_003306	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.338	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38225470	38225470	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:38225470T>C	ENST00000379705.3	-	8	2868	c.2011A>G	c.(2011-2013)Aaa>Gaa	p.K671E	TRPC4_ENST00000338947.5_Missense_Mutation_p.K498E|TRPC4_ENST00000379679.1_Missense_Mutation_p.K498E|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Missense_Mutation_p.K671E|TRPC4_ENST00000355779.2_Missense_Mutation_p.K671E|TRPC4_ENST00000379681.3_Missense_Mutation_p.K671E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.K671E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	671	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.K671E(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGATCCATTTGATCAGGTAC	0.423																																					p.K671E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2011G	13						.						132.0	128.0	130.0					13																	38225470		2203	4300	6503	37123470	SO:0001583	missense	7223	exon8			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.2011A>G	13.37:g.38225470T>C	ENSP00000369027:p.Lys671Glu		37123470	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362867	0.41902	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	T;T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.8	5.8	0.92144	.	0.283048	0.44902	D	0.000414	T	0.77046	0.4073	L	0.46157	1.445	0.22213	N	0.999283	B;B;B;B;B	0.19200	0.001;0.034;0.008;0.004;0.005	B;B;B;B;B	0.19666	0.009;0.025;0.026;0.009;0.004	T	0.67929	-0.5543	10	0.49607	T	0.09	-37.5651	16.1484	0.81586	0.0:0.0:0.0:1.0	.	671;671;498;671;671	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	E	671;671;498;498;671;671;671	ENSP00000369027:K671E;ENSP00000369003:K671E;ENSP00000342580:K498E;ENSP00000369001:K498E;ENSP00000348025:K671E;ENSP00000351264:K671E;ENSP00000414316:K671E	ENSP00000342580:K498E	K	-	1	0	TRPC4	37123470	0.973000	0.33851	1.000000	0.80357	0.978000	0.69477	2.489000	0.45285	2.226000	0.72624	0.459000	0.35465	AAA		0.423	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38357363	38357363	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:38357363G>A	ENST00000379705.3	-	2	965	c.108C>T	c.(106-108)taC>taT	p.Y36Y	TRPC4_ENST00000338947.5_Silent_p.Y36Y|TRPC4_ENST00000379679.1_Silent_p.Y36Y|TRPC4_ENST00000379673.2_Silent_p.Y36Y|TRPC4_ENST00000447043.1_Silent_p.Y36Y|TRPC4_ENST00000355779.2_Silent_p.Y36Y|TRPC4_ENST00000379681.3_Silent_p.Y36Y|TRPC4_ENST00000426868.2_Silent_p.Y36Y|TRPC4_ENST00000358477.2_Silent_p.Y36Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	36					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.Y36Y(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGCATTCAAGTAGGCTTTTT	0.378																																					p.Y36Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C108T	13						.						170.0	166.0	167.0					13																	38357363		2203	4300	6503	37255363	SO:0001819	synonymous_variant	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.108C>T	13.37:g.38357363G>A			37255363	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.378	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	G	A	rs201675703		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:39262299G>A	ENST00000280481.7	+	1	1034	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	273					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.R273H(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)		GCCGCCAGTCGCTCACCAAAC	0.622																																					p.R273H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818A	13						.						57.0	60.0	59.0					13																	39262299		2202	4299	6501	38160299	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.818G>A	13.37:g.39262299G>A	ENSP00000280481:p.Arg273His		38160299	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043599	0.19748	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.81	0.771	0.18504	.	0.408176	0.27917	N	0.017334	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16070	-1.0415	10	0.39692	T	0.17	.	1.7756	0.03021	0.2427:0.1058:0.4352:0.2164	.	273	Q5SZK8	FREM2_HUMAN	H	273	ENSP00000280481:R273H	ENSP00000280481:R273H	R	+	2	0	FREM2	38160299	0.000000	0.05858	0.008000	0.14137	0.981000	0.71138	0.521000	0.22893	0.349000	0.23975	0.655000	0.94253	CGC		0.622	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
STOML3	161003	broad.mit.edu	37	13	39544392	39544392	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:39544392C>A	ENST00000379631.4	-	5	790	c.446G>T	c.(445-447)aGa>aTa	p.R149I	STOML3_ENST00000423210.1_Missense_Mutation_p.R140I	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	149					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.R149I(1)		breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TAAGACATTTCTCAGAGTGGT	0.453																																					p.R140I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G419T	13						.						152.0	138.0	142.0					13																	39544392		2203	4300	6503	38442392	SO:0001583	missense	161003	exon6			BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.446G>T	13.37:g.39544392C>A	ENSP00000368952:p.Arg149Ile		38442392	NM_001144033	B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249973	0.95305	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.97976	-4.64;-4.64	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98143	1.0437	10	0.87932	D	0	-16.6063	17.6563	0.88179	0.0:1.0:0.0:0.0	.	140;149	B4E285;Q8TAV4	.;STML3_HUMAN	I	149;140	ENSP00000368952:R149I;ENSP00000401989:R140I	ENSP00000368952:R149I	R	-	2	0	STOML3	38442392	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.514000	0.81750	2.513000	0.84729	0.563000	0.77884	AGA		0.453	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2		
MTRF1	9617	broad.mit.edu	37	13	41797460	41797460	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:41797460G>A	ENST00000379480.4	-	9	1256	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	MTRF1_ENST00000430347.2_Missense_Mutation_p.R399W|MTRF1_ENST00000379477.1_Missense_Mutation_p.R386W	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	386					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)	p.R386W(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTATATGTCCGAATTCGCTCT	0.373																																					p.R386W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1156T	13						.						261.0	239.0	247.0					13																	41797460		2203	4300	6503	40695460	SO:0001583	missense	9617	exon9			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.1156C>T	13.37:g.41797460G>A	ENSP00000368793:p.Arg386Trp		40695460	NM_004294	B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	ENST00000379480.4	37	CCDS9378.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280943	0.80692	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347	T;T;T	0.46819	0.86;0.86;0.86	4.95	4.95	0.65309	Peptide chain release factor class I/class II (1);	0.187569	0.47455	D	0.000229	T	0.80460	0.4627	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72338	0.977;0.916	D	0.88025	0.2771	10	0.87932	D	0	-7.5541	17.1093	0.86671	0.0:0.0:1.0:0.0	.	399;386	B4DG01;O75570	.;RF1M_HUMAN	W	386;386;399	ENSP00000368793:R386W;ENSP00000368790:R386W;ENSP00000400031:R399W	ENSP00000368790:R386W	R	-	1	2	MTRF1	40695460	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.685000	0.68204	2.560000	0.86352	0.655000	0.94253	CGG		0.373	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044666.3	NM_004294	
VWA8	23078	broad.mit.edu	37	13	42524079	42524079	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:42524079C>T	ENST00000379310.3	-	2	302	c.234G>A	c.(232-234)caG>caA	p.Q78Q	VWA8_ENST00000281496.6_Silent_p.Q78Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	78						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q78Q(2)									TACTGTAGTTCTGTGGCACAA	0.249																																					p.Q78Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G234A	13						.						22.0	22.0	22.0					13																	42524079		2193	4292	6485	41422079	SO:0001819	synonymous_variant	23078	exon2			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.234G>A	13.37:g.42524079C>T			41422079	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	CCDS41881.1																																																																																				0.249	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
DGKH	160851	broad.mit.edu	37	13	42734235	42734235	+	Missense_Mutation	SNP	G	G	A	rs370149879		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:42734235G>A	ENST00000337343.4	+	7	839	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DGKH_ENST00000538674.1_Intron|DGKH_ENST00000536612.1_Missense_Mutation_p.R137H|DGKH_ENST00000379274.2_Missense_Mutation_p.R137H|DGKH_ENST00000540693.1_Missense_Mutation_p.R273H|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.5_Missense_Mutation_p.R273H	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	273					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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R273H(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGTGTTCTCCGTCTACAGGAT	0.483																																					p.R273H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G818A	13						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	203.0	163.0	177.0		818,410,410,818,818	6.0	1.0	13		177	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	DGKH	NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	273/1165,137/1101,137/1085,273/1165,273/1221	42734235	1,13005	2203	4300	6503	41632235	SO:0001583	missense	160851	exon7			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.818G>A	13.37:g.42734235G>A	ENSP00000337572:p.Arg273His		41632235	NM_178009	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461375	0.84317	2.27E-4	0.0	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.97	5.97	0.96955	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.053696	0.85682	D	0.000000	D	0.97340	0.9130	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.87578	0.998;0.997;0.931	D	0.97337	0.9954	10	0.87932	D	0	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	137;273;273	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	H	273;273;273;137;137	ENSP00000440823:R273H;ENSP00000337572:R273H;ENSP00000261491:R273H;ENSP00000368576:R137H;ENSP00000445114:R137H	ENSP00000261491:R273H	R	+	2	0	DGKH	41632235	1.000000	0.71417	0.968000	0.41197	0.640000	0.38277	7.586000	0.82596	2.835000	0.97688	0.591000	0.81541	CGT		0.483	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	
ZC3H13	23091	broad.mit.edu	37	13	46559497	46559497	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:46559497C>T	ENST00000242848.4	-	10	2003	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R552Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	552	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R552Q(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)		AATTTCACTTCGAGACTCATT	0.423																																					p.R552Q	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1655A	13						.						96.0	98.0	97.0					13																	46559497		2203	4300	6503	45457498	SO:0001583	missense	23091	exon10			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.1655G>A	13.37:g.46559497C>T	ENSP00000242848:p.Arg552Gln		45457498	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	17.64	3.440050	0.63067	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.44881	1.91;0.91	5.73	5.73	0.89815	.	0.000000	0.49916	D	0.000136	T	0.55784	0.1942	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.43147	-0.9409	10	0.28530	T	0.3	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	552;552	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	552;552;368	ENSP00000242848:R552Q;ENSP00000282007:R552Q	ENSP00000242848:R552Q	R	-	2	0	ZC3H13	45457498	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.497000	0.66924	2.861000	0.98227	0.655000	0.94253	CGA		0.423	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
LCP1	3936	broad.mit.edu	37	13	46708363	46708363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:46708363C>A	ENST00000398576.2	-	17	1913	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.E509*|LCP1_ENST00000435666.2_Nonsense_Mutation_p.E78*			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	509	Actin-binding 2.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.E509*(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCACCAATTTCTTCGAGGATA	0.353			T	BCL6	NHL																																p.E509X			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1525T	13						.						105.0	91.0	96.0					13																	46708363		2203	4300	6503	45606364	SO:0001587	stop_gained	3936	exon14			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1525G>T	13.37:g.46708363C>A	ENSP00000381581:p.Glu509*		45606364	NM_002298	B2R613|B4DUA0|Q5TBN4	Nonsense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	37	6.402342	0.97537	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	.	.	.	5.72	5.72	0.89469	.	0.290426	0.41823	D	0.000806	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.1472	18.8847	0.92372	0.0:1.0:0.0:0.0	.	.	.	.	X	509;509;78	.	ENSP00000315757:E509X	E	-	1	0	LCP1	45606364	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	7.776000	0.85560	2.717000	0.92951	0.655000	0.94253	GAA		0.353	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
LCP1	3936	broad.mit.edu	37	13	46721099	46721099	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:46721099C>A	ENST00000398576.2	-	13	1506	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	LCP1_ENST00000323076.2_Missense_Mutation_p.R373I			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	373	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R373I(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGCAGGGTATCTGTTAAAGAG	0.522			T	BCL6	NHL																																p.R373I			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118T	13						.						105.0	101.0	102.0					13																	46721099		2203	4300	6503	45619100	SO:0001583	missense	3936	exon10			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1118G>T	13.37:g.46721099C>A	ENSP00000381581:p.Arg373Ile		45619100	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861067	0.51482	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.95238	-3.65;-3.65	5.32	3.2	0.36748	Calponin homology domain (4);	0.178528	0.64402	D	0.000016	D	0.89473	0.6725	N	0.24115	0.695	0.80722	D	1	B	0.33318	0.408	B	0.39840	0.311	D	0.84438	0.0581	10	0.49607	T	0.09	-6.9065	7.1109	0.25390	0.0:0.5187:0.0:0.4813	.	373	P13796	PLSL_HUMAN	I	373	ENSP00000315757:R373I;ENSP00000381581:R373I	ENSP00000315757:R373I	R	-	2	0	LCP1	45619100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.150000	0.42254	0.444000	0.26612	0.555000	0.69702	AGA		0.522	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
KIAA0226L	80183	broad.mit.edu	37	13	46933739	46933739	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:46933739C>A	ENST00000429979.1	-	9	1751	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y	KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D226Y|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D383Y|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D316Y|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.D383Y|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D248Y|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.D383Y|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D226Y|KIAA0226L_ENST00000378781.3_3'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	383								p.D383Y(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GATTCAAAGTCTTTTCGGACA	0.318																																					p.D383Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147T	13						.						65.0	62.0	63.0					13																	46933739		2203	4297	6500	45831740	SO:0001583	missense	80183	exon9			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.1147G>T	13.37:g.46933739C>A	ENSP00000396935:p.Asp383Tyr		45831740	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242211	0.39598	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.52295	0.7;0.67;0.71;0.7;0.67;0.75	5.19	2.43	0.29744	.	0.510831	0.19159	N	0.121252	T	0.60090	0.2242	M	0.66939	2.045	0.80722	D	1	P;D;D;P;P;D	0.89917	0.94;0.963;0.998;0.911;0.946;1.0	P;P;P;P;P;D	0.69479	0.643;0.707;0.87;0.594;0.77;0.964	T	0.55860	-0.8074	10	0.52906	T	0.07	-3.8937	7.0269	0.24944	0.0:0.6086:0.241:0.1503	.	226;226;383;248;316;383	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	Y	383;383;316;383;383;226;226;248	ENSP00000396935:D383Y;ENSP00000368074:D383Y;ENSP00000368061:D316Y;ENSP00000374558:D383Y;ENSP00000368064:D383Y;ENSP00000437501:D248Y	ENSP00000315633:D226Y	D	-	1	0	KIAA0226L	45831740	1.000000	0.71417	0.885000	0.34714	0.507000	0.33981	2.029000	0.41098	0.251000	0.21505	-0.208000	0.12717	GAC		0.318	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
CYSLTR2	57105	broad.mit.edu	37	13	49281794	49281794	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:49281794G>T	ENST00000282018.3	+	1	844	c.841G>T	c.(841-843)Gac>Tac	p.D281Y		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	281					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)	p.D281Y(1)		endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTATGCAAAGACAGACTGCA	0.463																																					p.D281Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G841T	13						.						168.0	146.0	154.0					13																	49281794		2203	4300	6503	48179795	SO:0001583	missense	57105	exon1			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.841G>T	13.37:g.49281794G>T	ENSP00000282018:p.Asp281Tyr		48179795	NM_020377	Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.468684	0.26335	.	.	ENSG00000152207	ENST00000282018	T	0.21361	2.01	5.51	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.763785	0.11700	N	0.538015	T	0.30759	0.0775	L	0.43152	1.355	0.09310	N	0.999999	D	0.57257	0.979	P	0.55222	0.771	T	0.08411	-1.0723	10	0.62326	D	0.03	.	10.503	0.44817	0.1549:0.0:0.8451:0.0	.	281	Q9NS75	CLTR2_HUMAN	Y	281	ENSP00000282018:D281Y	ENSP00000282018:D281Y	D	+	1	0	CYSLTR2	48179795	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	0.445000	0.21677	1.337000	0.45525	0.655000	0.94253	GAC		0.463	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		
CDADC1	81602	broad.mit.edu	37	13	49854747	49854747	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:49854747C>A	ENST00000251108.6	+	8	1436	c.1323C>A	c.(1321-1323)atC>atA	p.I441I	CDADC1_ENST00000444959.1_Silent_p.I243I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	441							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.I441I(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAAAACAAATCTATGCAGGAG	0.383																																					p.I441I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323A	13						.						114.0	109.0	111.0					13																	49854747		2203	4300	6503	48752748	SO:0001819	synonymous_variant	81602	exon8			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1323C>A	13.37:g.49854747C>A			48752748	NM_030911	Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Silent	SNP	ENST00000251108.6	37	CCDS9415.1																																																																																				0.383	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911	
CAB39L	81617	broad.mit.edu	37	13	49933954	49933954	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:49933954C>T	ENST00000355854.4	-	4	788	c.291G>A	c.(289-291)gtG>gtA	p.V97V	CAB39L_ENST00000409308.1_Silent_p.V97V|CAB39L_ENST00000410043.1_Silent_p.V97V|CAB39L_ENST00000347776.5_Silent_p.V97V	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	97					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.V97V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		ATATCTGGGTCACATCTTTTT	0.333																																					p.V97V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G291A	13						.						115.0	108.0	111.0					13																	49933954		2203	4300	6503	48831955	SO:0001819	synonymous_variant	81617	exon4			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.291G>A	13.37:g.49933954C>T			48831955	NM_030925	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	ENST00000355854.4	37	CCDS9416.2																																																																																				0.333	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925	
NEK5	341676	broad.mit.edu	37	13	52693533	52693533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:52693533C>A	ENST00000355568.4	-	4	275	c.136G>T	c.(136-138)Gaa>Taa	p.E46*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E103*(1)|p.E46*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTTGAAGCTTCTTTTTCTTGT	0.323																																					p.E46X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G136T	13						.						76.0	77.0	77.0					13																	52693533		2200	4299	6499	51591534	SO:0001587	stop_gained	341676	exon4			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.136G>T	13.37:g.52693533C>A	ENSP00000347767:p.Glu46*		51591534	NM_199289	Q5TAP5	Nonsense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193387	0.94960	.	.	ENSG00000197168	ENST00000355568	.	.	.	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.0074	0.92857	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000347767:E46X	E	-	1	0	NEK5	51591534	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.266000	0.51569	2.474000	0.83562	0.655000	0.94253	GAA		0.323	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
THSD1	55901	broad.mit.edu	37	13	52951827	52951827	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:52951827G>A	ENST00000258613.4	-	5	2456	c.2278C>T	c.(2278-2280)Cgt>Tgt	p.R760C	THSD1_ENST00000349258.4_Missense_Mutation_p.R707C|THSD1_ENST00000544466.1_Missense_Mutation_p.R381C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	760					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R760C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGTCCCCGACGAGCTCTGTGG	0.547																																					p.R760C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2278T	13						.						118.0	124.0	122.0					13																	52951827		2203	4300	6503	51849828	SO:0001583	missense	55901	exon5			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2278C>T	13.37:g.52951827G>A	ENSP00000258613:p.Arg760Cys		51849828	NM_018676	A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700720	0.48307	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.39229	1.8;1.09;1.98	5.38	3.37	0.38596	.	0.324118	0.31542	N	0.007473	T	0.41488	0.1161	L	0.50333	1.59	0.30119	N	0.805889	D;D	0.71674	0.998;0.997	P;P	0.50049	0.629;0.614	T	0.46965	-0.9153	10	0.87932	D	0	-13.5217	6.3987	0.21626	0.0936:0.0:0.5714:0.335	.	707;760	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	707;381;760	ENSP00000340650:R707C;ENSP00000438512:R381C;ENSP00000258613:R760C	ENSP00000258613:R760C	R	-	1	0	THSD1	51849828	0.994000	0.37717	0.785000	0.31869	0.480000	0.33159	4.637000	0.61346	1.410000	0.46936	0.502000	0.49764	CGT		0.547	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3		
RNF219	79596	broad.mit.edu	37	13	79190225	79190225	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:79190225G>A	ENST00000282003.6	-	6	1729	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	557	Ser-rich.						zinc ion binding (GO:0008270)	p.N557N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		ACTTAAAACCGTTATTACAAG	0.413																																					p.N557N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1671T	13						.						142.0	143.0	143.0					13																	79190225		2203	4300	6503	78088226	SO:0001819	synonymous_variant	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1671C>T	13.37:g.79190225G>A			78088226	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	CCDS31997.1																																																																																				0.413	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
RNF219	79596	broad.mit.edu	37	13	79191193	79191193	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:79191193G>A	ENST00000282003.6	-	6	761	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	235							zinc ion binding (GO:0008270)	p.R235C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCTTGAGGCGATTGGTTTCA	0.383																																					p.R235C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C703T	13						.						107.0	102.0	103.0					13																	79191193		2203	4300	6503	78089194	SO:0001583	missense	79596	exon6			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.703C>T	13.37:g.79191193G>A	ENSP00000282003:p.Arg235Cys		78089194	NM_024546	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533362	0.64972	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	6.17	0.99709	.	0.121708	0.56097	D	0.000037	T	0.64405	0.2595	M	0.61703	1.905	0.54753	D	0.999989	D	0.65815	0.995	P	0.49387	0.609	T	0.67503	-0.5654	9	0.87932	D	0	-10.8595	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	235	Q5W0B1	RN219_HUMAN	C	235	.	ENSP00000282003:R235C	R	-	1	0	RNF219	78089194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.941000	0.99782	0.655000	0.94253	CGC		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546	
DCT	1638	broad.mit.edu	37	13	95118826	95118826	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:95118826C>T	ENST00000377028.5	-	3	1095	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	DCT_ENST00000446125.1_Missense_Mutation_p.E228K|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	228					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.E228K(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)		AGATCTCTTTCCAGACACAAC	0.378																																					p.E228K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G682A	13						.						66.0	66.0	66.0					13																	95118826		2203	4300	6503	93916827	SO:0001583	missense	1638	exon3			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.682G>A	13.37:g.95118826C>T	ENSP00000366227:p.Glu228Lys		93916827	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492439	0.96339	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99825	-6.97;-6.97	5.7	5.7	0.88788	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.043611	0.85682	D	0.000000	D	0.99896	0.9950	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96538	0.9398	10	0.87932	D	0	-20.5965	19.8418	0.96692	0.0:1.0:0.0:0.0	.	228;228	Q09GT4;P40126	.;TYRP2_HUMAN	K	228	ENSP00000366227:E228K;ENSP00000392762:E228K	ENSP00000366227:E228K	E	-	1	0	DCT	93916827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.685000	0.91497	0.561000	0.74099	GAA		0.378	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DZIP1	22873	broad.mit.edu	37	13	96246324	96246324	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:96246324C>T	ENST00000376829.2	-	16	2405	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	DZIP1_ENST00000361156.3_Silent_p.Q499Q|DZIP1_ENST00000361396.2_Silent_p.Q499Q|DZIP1_ENST00000347108.3_Silent_p.Q518Q	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	518					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.Q499Q(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)			TATTTAATTTCTGTTCATTTT	0.333																																					p.Q499Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1497A	13						.						130.0	108.0	115.0					13																	96246324		2203	4300	6503	95044325	SO:0001819	synonymous_variant	22873	exon15			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.1554G>A	13.37:g.96246324C>T			95044325	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.333	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
TM9SF2	9375	broad.mit.edu	37	13	100172322	100172322	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:100172322G>A	ENST00000376387.4	+	3	462	c.272G>A	c.(271-273)cGc>cAc	p.R91H	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	91					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R91H(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GAAGGAAAGCGCCCATCTGAA	0.343																																					p.R91H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G272A	13						.						81.0	80.0	80.0					13																	100172322		2203	4300	6503	98970323	SO:0001583	missense	9375	exon3			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.272G>A	13.37:g.100172322G>A	ENSP00000365567:p.Arg91His		98970323	NM_004800	A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874852	0.51695	.	.	ENSG00000125304	ENST00000376387	T	0.41400	1.0	5.75	5.75	0.90469	.	0.095027	0.64402	D	0.000001	T	0.33059	0.0850	N	0.21097	0.63	0.53005	D	0.999963	B;B	0.31655	0.223;0.334	B;B	0.29663	0.038;0.105	T	0.05435	-1.0885	10	0.29301	T	0.29	-1.8324	19.9911	0.97363	0.0:0.0:1.0:0.0	.	91;91	E9PHW5;Q99805	.;TM9S2_HUMAN	H	91	ENSP00000365567:R91H	ENSP00000365567:R91H	R	+	2	0	TM9SF2	98970323	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.083000	0.89515	2.734000	0.93682	0.585000	0.79938	CGC		0.343	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3		
CLYBL	171425	broad.mit.edu	37	13	100515340	100515340	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:100515340T>G	ENST00000376360.1	+	4	561	c.534T>G	c.(532-534)aaT>aaG	p.N178K	CLYBL_ENST00000339105.4_Missense_Mutation_p.N178K|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	178						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.N178K(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTTTGCTCAATTTTAAGGTAA	0.308																																					p.N178K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T534G	13						.						66.0	67.0	67.0					13																	100515340		2203	4300	6503	99313341	SO:0001583	missense	171425	exon4			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.534T>G	13.37:g.100515340T>G	ENSP00000365538:p.Asn178Lys		99313341	NM_206808	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402915	0.83230	.	.	ENSG00000125246	ENST00000376360;ENST00000339105;ENST00000416504	T;T;T	0.46451	0.87;0.87;0.87	5.42	5.42	0.78866	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.041017	0.85682	D	0.000000	T	0.61110	0.2321	M	0.85859	2.78	0.80722	D	1	D	0.56968	0.978	P	0.57846	0.828	T	0.66775	-0.5838	10	0.59425	D	0.04	-14.0302	10.1731	0.42922	0.0:0.0748:0.0:0.9252	.	178	Q8N0X4	CLYBL_HUMAN	K	178;178;95	ENSP00000365538:N178K;ENSP00000342991:N178K;ENSP00000403408:N95K	ENSP00000342991:N178K	N	+	3	2	CLYBL	99313341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.635000	0.61332	2.180000	0.69256	0.460000	0.39030	AAT		0.308	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
CDC16	8881	broad.mit.edu	37	13	115007715	115007715	+	Silent	SNP	C	C	T	rs145297166	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr13:115007715C>T	ENST00000356221.3	+	6	609	c.501C>T	c.(499-501)ttC>ttT	p.F167F	CDC16_ENST00000252458.6_Silent_p.F73F|CDC16_ENST00000360383.3_Silent_p.F167F|CDC16_ENST00000375312.3_Silent_p.F73F|CDC16_ENST00000375308.1_Silent_p.F73F|CDC16_ENST00000375310.1_Silent_p.F73F|CDC16_ENST00000252457.5_Silent_p.F166F|MIR548AR_ENST00000582191.1_RNA			Q13042	CDC16_HUMAN	cell division cycle 16	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.F166F(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTGAAGCGTTCGATCTTTTAA	0.373													c|||	2	0.000399361	0.0008	0.0	5008	,	,		19028	0.0		0.001	False		,,,				2504	0.0				p.F167F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	13						.	T	,	1,4405	826.1+/-416.6	0,1,2202	127.0	125.0	126.0		501,501	2.0	1.0	13	dbSNP_134	126	2,8598	819.1+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous	CDC16	NM_001078645.1,NM_003903.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	167/621,167/621	115007715	3,13003	2203	4300	6503	114025817	SO:0001819	synonymous_variant	8881	exon6			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.501C>T	13.37:g.115007715C>T			114025817	NM_001078645	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																				0.373	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
HPSE2	60495	broad.mit.edu	37	10	100242526	100242526	+	Missense_Mutation	SNP	G	G	A	rs144545292		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:100242526G>A	ENST00000370552.3	-	11	1539	c.1480C>T	c.(1480-1482)Cgt>Tgt	p.R494C	HPSE2_ENST00000404542.1_Missense_Mutation_p.R382C|HPSE2_ENST00000370546.1_Missense_Mutation_p.R494C|HPSE2_ENST00000370549.1_Missense_Mutation_p.R436C	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	494					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.R494C(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATGGACCCACGAACGTAGTTG	0.403																																					p.R494C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1480T	10						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	90.0	80.0	84.0		1306,1144,1480,1480	5.3	1.0	10	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	HPSE2	NM_001166244.1,NM_001166245.1,NM_001166246.1,NM_021828.4	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	436/535,382/481,494/549,494/593	100242526	1,13005	2203	4300	6503	100232516	SO:0001583	missense	60495	exon11			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.1480C>T	10.37:g.100242526G>A	ENSP00000359583:p.Arg494Cys		100232516	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765044	0.69878	0.0	1.16E-4	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.48836	0.8;0.82;1.36;0.83	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.989;0.997;0.99	T	0.64723	-0.6340	10	0.66056	D	0.02	-4.6739	14.3001	0.66341	0.0:0.0:0.8515:0.1484	.	382;494;436;494	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	C	494;436;494;382	ENSP00000359583:R494C;ENSP00000359580:R436C;ENSP00000359577:R494C;ENSP00000384384:R382C	ENSP00000359577:R494C	R	-	1	0	HPSE2	100232516	1.000000	0.71417	0.987000	0.45799	0.832000	0.47134	5.457000	0.66672	2.677000	0.91161	0.655000	0.94253	CGT		0.403	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
ABCC2	1244	broad.mit.edu	37	10	101591537	101591537	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:101591537C>A	ENST00000370449.4	+	22	3166	c.3053C>A	c.(3052-3054)tCt>tAt	p.S1018Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1018	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.S1018Y(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)	TATCCAGCATCTCAGAGGGAC	0.473																																					p.S1018Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3053A	10						.						112.0	109.0	110.0					10																	101591537		2203	4300	6503	101581527	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.3053C>A	10.37:g.101591537C>A	ENSP00000359478:p.Ser1018Tyr		101581527	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	C	9.203	1.028977	0.19512	.	.	ENSG00000023839	ENST00000370449	D	0.89617	-2.54	5.64	5.64	0.86602	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.392641	0.30752	N	0.008953	D	0.91613	0.7350	L	0.60845	1.875	0.26995	N	0.965041	D	0.55605	0.972	P	0.56788	0.806	D	0.86687	0.1920	10	0.54805	T	0.06	-13.2759	15.3886	0.74723	0.1479:0.8521:0.0:0.0	.	1018	Q92887	MRP2_HUMAN	Y	1018	ENSP00000359478:S1018Y	ENSP00000359478:S1018Y	S	+	2	0	ABCC2	101581527	0.127000	0.22367	0.995000	0.50966	0.035000	0.12851	1.922000	0.40045	2.661000	0.90470	0.591000	0.81541	TCT		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
PPRC1	23082	broad.mit.edu	37	10	103899315	103899315	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:103899315G>A	ENST00000278070.2	+	5	1089	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	PPRC1_ENST00000413464.2_Silent_p.G350G|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	350					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.G350G(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGATTGTGGGGCAGGCAGCCA	0.597																																					p.G350G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1050A	10						.						114.0	114.0	114.0					10																	103899315		2203	4300	6503	103889305	SO:0001819	synonymous_variant	23082	exon5			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1050G>A	10.37:g.103899315G>A			103889305	NM_015062	Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	CCDS7529.1																																																																																				0.597	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	
CFAP43	80217	broad.mit.edu	37	10	105903290	105903290	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:105903290G>T	ENST00000357060.3	-	32	4167	c.4052C>A	c.(4051-4053)gCt>gAt	p.A1351D	WDR96_ENST00000428666.1_Missense_Mutation_p.A1323D|WDR96_ENST00000479392.1_5'Flank	NM_025145.5	NP_079421.5												p.A1351D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCATCCATAGCTTTCATTAA	0.433																																					p.A1351D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4052A	10						.						142.0	133.0	136.0					10																	105903290		2203	4300	6503	105893280	SO:0001583	missense	80217	exon32																														ENST00000357060.3:c.4052C>A	10.37:g.105903290G>T	ENSP00000349568:p.Ala1351Asp		105893280	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.881326|3.881326	0.72294|0.72294	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.16457|.	2.37;2.34|.	6.02|6.02	5.11|5.11	0.69529|0.69529	.|.	0.153716|.	0.64402|.	D|.	0.000017|.	T|T	0.72938|0.72938	0.3523|0.3523	M|M	0.71581|0.71581	2.175|2.175	0.44295|0.44295	D|D	0.997162|0.997162	P;D|.	0.65815|.	0.948;0.995|.	P;D|.	0.65323|.	0.66;0.934|.	T|T	0.71790|0.71790	-0.4486|-0.4486	10|5	0.26408|.	T|.	0.33|.	.|.	14.3797|14.3797	0.66902|0.66902	0.0709:0.0:0.9291:0.0|0.0709:0.0:0.9291:0.0	.|.	1323;1351|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	D|I	1351;1323|200;683	ENSP00000349568:A1351D;ENSP00000400289:A1323D|.	ENSP00000349568:A1351D|.	A|L	-|-	2|1	0|2	WDR96|WDR96	105893280|105893280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.161000|5.161000	0.64935|0.64935	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCT|CTA		0.433	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CFAP43	80217	broad.mit.edu	37	10	105920835	105920835	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:105920835T>C	ENST00000357060.3	-	27	3615	c.3500A>G	c.(3499-3501)aAa>aGa	p.K1167R	WDR96_ENST00000428666.1_Missense_Mutation_p.K1168R	NM_025145.5	NP_079421.5												p.K1167R(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCTTTACTTTTTTCTCATA	0.328																																					p.K1167R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3500G	10						.						121.0	112.0	115.0					10																	105920835		2203	4300	6503	105910825	SO:0001583	missense	80217	exon27																														ENST00000357060.3:c.3500A>G	10.37:g.105920835T>C	ENSP00000349568:p.Lys1167Arg		105910825	NM_025145		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.571609|4.571609	0.86542|0.86542	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000457071;ENST00000434629|ENST00000357060;ENST00000428666	T|T;T	0.53206|0.18960	0.63|2.18;2.2	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.49133|0.49133	0.1539|0.1539	M|M	0.82056|0.82056	2.57|2.57	0.45216|0.45216	D|D	0.998223|0.998223	.|D;D	.|0.76494	.|0.963;0.999	.|D;D	.|0.77557	.|0.909;0.99	T|T	0.48364|0.48364	-0.9042|-0.9042	8|10	0.87932|0.41790	D|T	0|0.15	.|.	15.8596|15.8596	0.79012|0.79012	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1168;1167	.|G5E9L1;Q8NDM7	.|.;WDR96_HUMAN	E|R	16;528|1167;1168	ENSP00000391364:K528E|ENSP00000349568:K1167R;ENSP00000400289:K1168R	ENSP00000391364:K528E|ENSP00000349568:K1167R	K|K	-|-	1|2	0|0	WDR96|WDR96	105910825|105910825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.638000|4.638000	0.61353|0.61353	2.226000|2.226000	0.72624|0.72624	0.533000|0.533000	0.62120|0.62120	AAG|AAA		0.328	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CFAP58	159686	broad.mit.edu	37	10	106118308	106118308	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:106118308G>T	ENST00000369704.3	+	2	353	c.219G>T	c.(217-219)gtG>gtT	p.V73V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		73						extracellular space (GO:0005615)		p.V73V(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)		AGATTGTAGTGAATTCTGCGA	0.433																																					p.V73V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G219T	10						.						86.0	74.0	78.0					10																	106118308		2203	4300	6503	106108298	SO:0001819	synonymous_variant	159686	exon2																														ENST00000369704.3:c.219G>T	10.37:g.106118308G>T			106108298	NM_001008723	D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	CCDS31282.1																																																																																				0.433	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
SORCS3	22986	broad.mit.edu	37	10	106907522	106907522	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:106907522C>A	ENST00000369701.3	+	9	1677	c.1450C>A	c.(1450-1452)Cta>Ata	p.L484I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	484					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.L484I(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)		CAGCAGAGGTCTAATGGGGAA	0.433																																					p.L484I	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1450A	10						.						196.0	158.0	171.0					10																	106907522		2203	4299	6502	106897512	SO:0001583	missense	22986	exon9			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.1450C>A	10.37:g.106907522C>A	ENSP00000358715:p.Leu484Ile		106897512	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265410	0.23136	.	.	ENSG00000156395	ENST00000369701	T	0.22134	1.97	5.42	5.42	0.78866	VPS10 (1);	0.227351	0.38326	N	0.001737	T	0.18087	0.0434	L	0.36672	1.1	0.35973	D	0.835441	B	0.20780	0.048	B	0.18871	0.023	T	0.10847	-1.0612	9	.	.	.	.	15.1218	0.72450	0.0:0.859:0.141:0.0	.	484	Q9UPU3	SORC3_HUMAN	I	484	ENSP00000358715:L484I	.	L	+	1	2	SORCS3	106897512	0.190000	0.23276	1.000000	0.80357	0.930000	0.56654	2.070000	0.41491	2.716000	0.92895	0.650000	0.86243	CTA		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SMC3	9126	broad.mit.edu	37	10	112343972	112343972	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:112343972C>A	ENST00000361804.4	+	13	1249	c.1123C>A	c.(1123-1125)Ctt>Att	p.L375I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	375					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.L375I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGAACGGATCTTTATGCAAA	0.368																																					p.L375I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123A	10						.						106.0	106.0	106.0					10																	112343972		2203	4300	6503	112333962	SO:0001583	missense	9126	exon13			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1123C>A	10.37:g.112343972C>A	ENSP00000354720:p.Leu375Ile		112333962	NM_005445	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286171	0.80803	.	.	ENSG00000108055	ENST00000361804	T	0.79454	-1.27	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87390	0.6165	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	P	0.62649	0.905	D	0.86473	0.1786	10	0.46703	T	0.11	.	19.973	0.97292	0.0:1.0:0.0:0.0	.	375	Q9UQE7	SMC3_HUMAN	I	375	ENSP00000354720:L375I	ENSP00000354720:L375I	L	+	1	0	SMC3	112333962	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.973000	0.49264	2.725000	0.93324	0.460000	0.39030	CTT		0.368	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:115406696C>T	ENST00000359988.3	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_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	
DCLRE1A	9937	broad.mit.edu	37	10	115609288	115609288	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:115609288A>C	ENST00000361384.2	-	2	2493	c.1576T>G	c.(1576-1578)Ttg>Gtg	p.L526V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.L526V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	526	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.L526V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTACTAGACAAGTTTTCTGTA	0.363								Other identified genes with known or suspected DNA repair function																													p.L526V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1576G	10						.						104.0	107.0	106.0					10																	115609288		2203	4300	6503	115599278	SO:0001583	missense	9937	exon2				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1576T>G	10.37:g.115609288A>C	ENSP00000355185:p.Leu526Val		115599278	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	A	9.411	1.080626	0.20309	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.63096	-0.02;-0.02	5.7	-3.28	0.05033	.	3.154460	0.00481	N	0.000136	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08785	-1.0705	10	0.16896	T	0.51	4.4748	2.0998	0.03677	0.3255:0.3817:0.1697:0.1231	.	526	Q6PJP8	DCR1A_HUMAN	V	526	ENSP00000355185:L526V;ENSP00000358311:L526V	ENSP00000355185:L526V	L	-	1	2	DCLRE1A	115599278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.110000	0.10824	-0.898000	0.03906	-0.446000	0.05623	TTG		0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
GFRA1	2674	broad.mit.edu	37	10	117824003	117824003	+	Nonsense_Mutation	SNP	G	G	T	rs76681527		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:117824003G>T	ENST00000355422.6	-	11	1854	c.1304C>A	c.(1303-1305)tCa>tAa	p.S435*	GFRA1_ENST00000439649.3_Nonsense_Mutation_p.S430*|GFRA1_ENST00000369236.1_Nonsense_Mutation_p.S430*|GFRA1_ENST00000544592.1_Nonsense_Mutation_p.S314*	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	435					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.S430*(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AGCAGCCATTGATTTTGTGGT	0.453																																					p.S430X	Ovarian(128;329 1725 45498 46808 50759)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1289A	10						.						178.0	140.0	153.0					10																	117824003		2203	4300	6503	117813993	SO:0001587	stop_gained	2674	exon10			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1304C>A	10.37:g.117824003G>T	ENSP00000347591:p.Ser435*		117813993	NM_001145453	A8KA21|O15507|O43912	Nonsense_Mutation	SNP	ENST00000355422.6	37	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	G	43	10.125228	0.99342	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	.	.	.	6.06	6.06	0.98353	.	0.205947	0.43110	D	0.000607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7696	18.8014	0.92018	0.0:0.0:1.0:0.0	.	.	.	.	X	435;430;430;314;430	.	ENSP00000347591:S430X	S	-	2	0	GFRA1	117813993	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.069000	0.71209	2.882000	0.98803	0.655000	0.94253	TCA		0.453	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793	
UPF2	26019	broad.mit.edu	37	10	12077252	12077252	+	Missense_Mutation	SNP	C	C	A	rs113169760		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:12077252C>A	ENST00000356352.2	-	1	644	c.171G>T	c.(169-171)aaG>aaT	p.K57N	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000397053.2_Missense_Mutation_p.K57N|UPF2_ENST00000357604.5_Missense_Mutation_p.K57N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	57	Glu/Lys-rich.				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.K57N(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)				CCAGTCTCTTCTTCTTGTCTT	0.453																																					p.K57N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171T	10						.						230.0	208.0	215.0					10																	12077252		2203	4300	6503	12117258	SO:0001583	missense	26019	exon2			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.171G>T	10.37:g.12077252C>A	ENSP00000348708:p.Lys57Asn		12117258	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605160	0.66445	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.15372	2.43;2.43;2.43	5.78	4.88	0.63580	.	0.062614	0.64402	D	0.000008	T	0.16385	0.0394	L	0.34521	1.04	0.40752	D	0.982925	P	0.37781	0.608	B	0.37943	0.261	T	0.03684	-1.1013	10	0.72032	D	0.01	.	14.905	0.70711	0.0:0.9315:0.0:0.0685	.	57	Q9HAU5	RENT2_HUMAN	N	57	ENSP00000348708:K57N;ENSP00000350221:K57N;ENSP00000380244:K57N	ENSP00000348708:K57N	K	-	3	2	UPF2	12117258	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.370000	0.52372	1.589000	0.49982	0.591000	0.81541	AAG		0.453	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
PNLIPRP3	119548	broad.mit.edu	37	10	118225646	118225646	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:118225646C>A	ENST00000369230.3	+	8	1039	c.893C>A	c.(892-894)gCt>gAt	p.A298D		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	298					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.A298D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCATTTATTGCTTATCCTTGT	0.318																																					p.A298D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C893A	10						.						121.0	116.0	118.0					10																	118225646		2201	4299	6500	118215636	SO:0001583	missense	119548	exon8			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.893C>A	10.37:g.118225646C>A	ENSP00000358232:p.Ala298Asp		118215636	NM_001011709		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768174	0.31320	.	.	ENSG00000203837	ENST00000369230	D	0.93426	-3.22	4.93	3.0	0.34707	Lipase, N-terminal (1);	0.259771	0.24752	N	0.035900	D	0.96907	0.8990	M	0.93978	3.48	0.23984	N	0.996263	D	0.89917	1.0	D	0.81914	0.995	D	0.90720	0.4634	10	0.87932	D	0	.	9.2461	0.37527	0.0:0.5849:0.3259:0.0892	.	298	Q17RR3	LIPR3_HUMAN	D	298	ENSP00000358232:A298D	ENSP00000358232:A298D	A	+	2	0	PNLIPRP3	118215636	0.981000	0.34729	0.982000	0.44146	0.775000	0.43874	1.942000	0.40243	1.325000	0.45301	0.655000	0.94253	GCT		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
TIAL1	7073	broad.mit.edu	37	10	121341983	121341983	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:121341983T>G	ENST00000436547.2	-	3	260	c.216A>C	c.(214-216)aaA>aaC	p.K72N	TIAL1_ENST00000369093.2_Missense_Mutation_p.K89N|TIAL1_ENST00000369092.4_5'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K89N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TTCCCAAAATTTTTCTCCCAT	0.363																																					p.K89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A267C	10						.						131.0	143.0	139.0					10																	121341983		2203	4298	6501	121331973	SO:0001583	missense	7073	exon3			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.216A>C	10.37:g.121341983T>G	ENSP00000394902:p.Lys72Asn		121331973	NM_001033925	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134355	0.56828	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	N	0.16016	0.355	0.80722	D	1	B;D	0.89917	0.135;1.0	B;D	0.79108	0.204;0.992	T	0.10683	-1.0619	10	0.35671	T	0.21	-21.4618	16.542	0.84395	0.0:0.0:0.0:1.0	.	89;72	A8K4L9;Q01085	.;TIAR_HUMAN	N	89;72;33;33	ENSP00000358089:K89N;ENSP00000394902:K72N;ENSP00000403573:K33N;ENSP00000358082:K33N	ENSP00000358082:K33N	K	-	3	2	TIAL1	121331973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.210000	0.51129	2.304000	0.77564	0.528000	0.53228	AAA		0.363	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	
WDR11	55717	broad.mit.edu	37	10	122649475	122649475	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:122649475T>G	ENST00000263461.6	+	18	2543	c.2297T>G	c.(2296-2298)tTa>tGa	p.L766*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.L766*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AATCAAAAATTAATAGCAATG	0.388																																					p.L766X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T2297G	10						.						116.0	110.0	112.0					10																	122649475		2203	4300	6503	122639465	SO:0001587	stop_gained	55717	exon18			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2297T>G	10.37:g.122649475T>G	ENSP00000263461:p.Leu766*		122639465	NM_018117	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000263461.6	37	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	t	43	10.101035	0.99337	.	.	ENSG00000120008	ENST00000263461	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0903	15.8895	0.79286	0.0:0.0:0.0:1.0	.	.	.	.	X	766	.	ENSP00000263461:L766X	L	+	2	0	WDR11	122639465	1.000000	0.71417	0.893000	0.35052	0.996000	0.88848	7.508000	0.81686	2.207000	0.71202	0.533000	0.62120	TTA		0.388	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2		
FGFR2	2263	broad.mit.edu	37	10	123310820	123310820	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:123310820C>T	ENST00000358487.5	-	5	880	c.608G>A	c.(607-609)cGc>cAc	p.R203H	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Missense_Mutation_p.R203H|FGFR2_ENST00000369059.1_Missense_Mutation_p.R88H|FGFR2_ENST00000357555.5_Missense_Mutation_p.R114H|FGFR2_ENST00000369060.4_Missense_Mutation_p.R203H|FGFR2_ENST00000360144.3_Missense_Mutation_p.R114H|FGFR2_ENST00000356226.4_Missense_Mutation_p.R88H|FGFR2_ENST00000359354.2_Missense_Mutation_p.R203H|FGFR2_ENST00000457416.2_Missense_Mutation_p.R203H|FGFR2_ENST00000351936.6_Missense_Mutation_p.R203H|FGFR2_ENST00000346997.2_Missense_Mutation_p.R203H|FGFR2_ENST00000369061.4_Missense_Mutation_p.R203H	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	203	Ig-like C2-type 2.		R -> C (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R203H(2)|p.R114H(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GCCTCCAATGCGATGCTCCTG	0.448		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																												p.R88H			Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	FGFR2,breast,NS,Substitution - Missense,-1	.	3	Substitution - Missense(3)	large_intestine(3)	c.G263A	10						.						126.0	121.0	123.0					10																	123310820		2203	4300	6503	123300810	SO:0001583	missense	2263	exon2	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.608G>A	10.37:g.123310820C>T	ENSP00000351276:p.Arg203His		123300810	NM_001144916	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810627	0.90707	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	D;D;D;D;D;D;D;D;D;D;D;D;D;T	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;1.19	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.921;1.0	D;D;D;D;D;D;D;D;D;D;B;D	0.97110	1.0;1.0;0.993;1.0;0.998;0.993;0.982;1.0;0.997;0.997;0.304;0.998	D	0.92996	0.6419	10	0.56958	D	0.05	.	18.0697	0.89402	0.0:1.0:0.0:0.0	.	222;222;88;203;222;203;114;88;203;222;114;203	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	H	114;203;203;203;88;203;88;203;203;203;114;203;203;114;203	ENSP00000350166:R114H;ENSP00000358057:R203H;ENSP00000351276:R203H;ENSP00000348559:R88H;ENSP00000358056:R203H;ENSP00000358055:R88H;ENSP00000263451:R203H;ENSP00000410294:R203H;ENSP00000309878:R203H;ENSP00000353262:R114H;ENSP00000358052:R203H;ENSP00000358054:R203H;ENSP00000337665:R114H;ENSP00000352309:R203H	ENSP00000337665:R114H	R	-	2	0	FGFR2	123300810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.714000	0.84703	2.255000	0.74692	0.609000	0.83330	CGC		0.448	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
ATE1	11101	broad.mit.edu	37	10	123670624	123670624	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:123670624T>G	ENST00000224652.6	-	5	465	c.380A>C	c.(379-381)gAc>gCc	p.D127A	ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.D12A|ATE1_ENST00000540606.1_Missense_Mutation_p.D120A|ATE1_ENST00000369040.3_Missense_Mutation_p.D31A|ATE1_ENST00000369043.3_Missense_Mutation_p.D127A	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	127					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.D127A(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CAATGCAAAGTCACCCGCAAC	0.353																																					p.D127A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A380C	10						.						116.0	120.0	119.0					10																	123670624		2203	4300	6503	123660614	SO:0001583	missense	11101	exon5			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.380A>C	10.37:g.123670624T>G	ENSP00000224652:p.Asp127Ala		123660614	NM_001001976	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.40|14.40	2.523845|2.523845	0.44866|0.44866	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447;ENST00000455628|ENST00000423243	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.377633|.	0.29369|.	N|.	0.012348|.	T|.	0.64560|.	0.2609|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.41624|.	0.046;0.757;0.376;0.082|.	B;B;B;B|.	0.39185|.	0.036;0.293;0.164;0.036|.	T|.	0.65364|.	-0.6186|.	9|.	0.33141|.	T|.	0.24|.	-14.9234|-14.9234	8.9282|8.9282	0.35655|0.35655	0.0:0.1257:0.0:0.8743|0.0:0.1257:0.0:0.8743	.|.	120;31;127;127|.	F5GXE4;B4E107;O95260;O95260-2|.	.;.;ATE1_HUMAN;.|.	A|C	127;127;31;120;12;120|123	.|.	ENSP00000224652:D127A|.	D|X	-|-	2|3	0|0	ATE1|ATE1	123660614|123660614	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	1.436000|1.436000	0.34980|0.34980	2.207000|2.207000	0.71202|0.71202	0.460000|0.460000	0.39030|0.39030	GAC|TGA		0.353	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	
CUZD1	50624	broad.mit.edu	37	10	124598705	124598705	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:124598705G>T	ENST00000368904.1	-	5	1225	c.276C>A	c.(274-276)gtC>gtA	p.V92V	CUZD1_ENST00000392790.1_Silent_p.V92V|CUZD1_ENST00000545804.1_Silent_p.V92V					CUB and zona pellucida-like domains 1									p.V92V(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTCCGTCAAAGACTTTAATGT	0.443																																					p.V92V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C276A	10						.						171.0	158.0	162.0					10																	124598705		2203	4300	6503	124588695	SO:0001819	synonymous_variant	50624	exon3			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.276C>A	10.37:g.124598705G>T			124588695	NM_022034		Silent	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																				0.443	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
CPXM2	119587	broad.mit.edu	37	10	125557552	125557552	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:125557552A>G	ENST00000241305.3	-	6	983	c.829T>C	c.(829-831)Tcc>Ccc	p.S277P	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	277	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S277P(1)|p.S277A(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)		TCAAACCAGGACTGAGGGTTT	0.537																																					p.S277P												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.T829C	10						.						125.0	104.0	111.0					10																	125557552		2203	4300	6503	125547542	SO:0001583	missense	119587	exon6			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.829T>C	10.37:g.125557552A>G	ENSP00000241305:p.Ser277Pro		125547542	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207311	0.39003	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.98455	-4.94	4.46	3.28	0.37604	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.061433	0.64402	D	0.000002	D	0.98764	0.9584	M	0.89163	3.01	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	D	0.98894	1.0774	10	0.87932	D	0	-5.8711	9.0236	0.36215	0.7061:0.0:0.0:0.2939	.	277	Q8N436	CPXM2_HUMAN	P	277;110;277	ENSP00000241305:S277P	ENSP00000241305:S277P	S	-	1	0	CPXM2	125547542	0.997000	0.39634	0.918000	0.36340	0.067000	0.16453	3.567000	0.53813	0.700000	0.31782	0.455000	0.32223	TCC		0.537	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
FAM175B	23172	broad.mit.edu	37	10	126519950	126519950	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:126519950A>G	ENST00000298492.5	+	8	741	c.696A>G	c.(694-696)cgA>cgG	p.R232R		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	232					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.R232R(1)		NS(1)	1						AGAGTGAGCGAGTTGTTGAAT	0.373																																					p.R232R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A696G	10						.						98.0	86.0	90.0					10																	126519950		2203	4300	6503	126509940	SO:0001819	synonymous_variant	23172	exon8			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.696A>G	10.37:g.126519950A>G			126509940	NM_032182	B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	CCDS31308.2																																																																																				0.373	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182	
FANK1	92565	broad.mit.edu	37	10	127668864	127668864	+	Nonsense_Mutation	SNP	G	G	T	rs146106149	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:127668864G>T	ENST00000368693.1	+	2	252	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	FANK1_ENST00000368689.1_Nonsense_Mutation_p.E44*|FANK1_ENST00000368695.1_Nonsense_Mutation_p.E44*|FANK1_ENST00000449042.2_Nonsense_Mutation_p.E44*			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	50	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E50*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GTTCTCGATTGAAGAAGAAGA	0.443																																					p.E50X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G148T	10						.						112.0	106.0	108.0					10																	127668864		2203	4300	6503	127658854	SO:0001587	stop_gained	92565	exon2			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.148G>T	10.37:g.127668864G>T	ENSP00000357682:p.Glu50*		127658854	NM_145235	Q6UXY9|Q6X7T6	Nonsense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354475	0.95830	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000449042;ENST00000417114;ENST00000445510;ENST00000368691;ENST00000368689;ENST00000368692	.	.	.	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.5901	17.1173	0.86692	0.0:0.0:1.0:0.0	.	.	.	.	X	44;50;44;44;44;44;44;50	.	ENSP00000357678:E44X	E	+	1	0	FANK1	127658854	1.000000	0.71417	0.692000	0.30179	0.936000	0.57629	6.054000	0.71096	2.313000	0.78055	0.563000	0.77884	GAA		0.443	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
DIP2C	22982	broad.mit.edu	37	10	461734	461734	+	Silent	SNP	G	G	A	rs140437755		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:461734G>A	ENST00000280886.6	-	7	921	c.834C>T	c.(832-834)gtC>gtT	p.V278V	DIP2C_ENST00000381496.3_Silent_p.V171V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	278						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.V278V(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAAAGTCATCGACAAAGAATT	0.418																																					p.V278V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C834T	10						.	G		0,4406		0,0,2203	161.0	155.0	157.0		834	-5.3	1.0	10	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		278/1557	461734	1,13005	2203	4300	6503	451734	SO:0001819	synonymous_variant	22982	exon7			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.834C>T	10.37:g.461734G>A			451734	NM_014974	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1																																																																																				0.418	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
AKR1C2	1646	broad.mit.edu	37	10	5043729	5043729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:5043729C>A	ENST00000380753.4	-	2	416	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	AKR1C2_ENST00000421196.3_Nonsense_Mutation_p.E77*|AKR1C2_ENST00000455190.1_Nonsense_Mutation_p.E77*|AKR1C2_ENST00000407674.1_Nonsense_Mutation_p.E77*	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	77					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.E77*(2)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	AATATGTCTTCTCTCTTCACA	0.448																																					p.E77X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G229T	10						.						142.0	118.0	126.0					10																	5043729		2203	4297	6500	5033729	SO:0001587	stop_gained	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.229G>T	10.37:g.5043729C>A	ENSP00000370129:p.Glu77*		5033729	NM_205845	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	Nonsense_Mutation	SNP	ENST00000380753.4	37	CCDS7062.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462356	0.63513	.	.	ENSG00000151632	ENST00000380753;ENST00000421196;ENST00000407674;ENST00000455190	.	.	.	2.35	1.43	0.22495	.	0.103283	0.39544	N	0.001339	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.8629	0.24077	0.0:0.8443:0.0:0.1557	.	.	.	.	X	77	.	ENSP00000370129:E77X	E	-	1	0	AKR1C2	5033729	1.000000	0.71417	0.994000	0.49952	0.312000	0.27988	2.103000	0.41806	0.527000	0.28560	0.205000	0.17691	GAA		0.448	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046531.1	NM_001354	
AKR1C3	8644	broad.mit.edu	37	10	5149674	5149674	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:5149674T>C	ENST00000380554.3	+	9	1603	c.951T>C	c.(949-951)taT>taC	p.Y317Y	AKR1C3_ENST00000605149.1_Silent_p.Y294Y|AKR1C3_ENST00000439082.2_Silent_p.Y198Y	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	317					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.Y317Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ACCCTAATTATCCATATTCAG	0.413																																					p.Y317Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T951C	10						.						94.0	89.0	90.0					10																	5149674		2203	4300	6503	5139674	SO:0001819	synonymous_variant	8644	exon9			L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.951T>C	10.37:g.5149674T>C			5139674	NM_003739	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	CCDS7063.1																																																																																				0.413	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739	
AKR1C4	1109	broad.mit.edu	37	10	5260709	5260709	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:5260709T>G	ENST00000380448.1	+	11	1211	c.958T>G	c.(958-960)Tca>Gca	p.S320A	AKR1C4_ENST00000263126.1_Missense_Mutation_p.S320A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	320					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.S320A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						TTATCCATTTTCAGATGAATA	0.408																																					p.S320A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T958G	10						.						143.0	120.0	128.0					10																	5260709		2203	4300	6503	5250709	SO:0001583	missense	1109	exon9			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.958T>G	10.37:g.5260709T>G	ENSP00000369814:p.Ser320Ala		5250709	NM_001818	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	T	6.032	0.374325	0.11409	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.25085	1.82;1.82	2.83	-5.67	0.02444	NADP-dependent oxidoreductase domain (2);	2.924460	0.01494	N	0.017234	T	0.13798	0.0334	L	0.33189	0.99	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14420	-1.0473	10	0.14252	T	0.57	.	0.4419	0.00487	0.31:0.1189:0.2068:0.3643	.	320	P17516	AK1C4_HUMAN	A	320	ENSP00000369814:S320A;ENSP00000263126:S320A	ENSP00000263126:S320A	S	+	1	0	AKR1C4	5250709	0.001000	0.12720	0.002000	0.10522	0.065000	0.16274	-0.714000	0.05002	-0.585000	0.05905	0.260000	0.18958	TCA		0.408	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	
ITIH2	3698	broad.mit.edu	37	10	7786819	7786819	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:7786819C>A	ENST00000358415.4	+	19	2640	c.2474C>A	c.(2473-2475)tCt>tAt	p.S825Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.S814Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	825					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S825Y(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATGTCCTTTTCTGTTTTACTT	0.428																																					p.S825Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2474A	10						.						152.0	141.0	145.0					10																	7786819		2203	4300	6503	7826825	SO:0001583	missense	3698	exon19			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2474C>A	10.37:g.7786819C>A	ENSP00000351190:p.Ser825Tyr		7826825	NM_002216	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655116	0.67472	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11930	2.73;2.73	5.79	5.79	0.91817	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.235571	0.40469	N	0.001083	T	0.27349	0.0671	M	0.76838	2.35	0.29132	N	0.879586	P	0.52316	0.952	P	0.54815	0.761	T	0.28554	-1.0040	10	0.37606	T	0.19	-8.3691	7.5955	0.28046	0.0:0.8047:0.0:0.1953	.	825	P19823	ITIH2_HUMAN	Y	825;814	ENSP00000351190:S825Y;ENSP00000368906:S814Y	ENSP00000351190:S825Y	S	+	2	0	ITIH2	7826825	1.000000	0.71417	0.989000	0.46669	0.831000	0.47069	2.906000	0.48735	2.737000	0.93849	0.591000	0.81541	TCT		0.428	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
PHYH	5264	broad.mit.edu	37	10	13336521	13336521	+	Silent	SNP	C	C	T	rs115198308	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:13336521C>T	ENST00000263038.4	-	4	379	c.321G>A	c.(319-321)tcG>tcA	p.S107S	PHYH_ENST00000396913.2_Silent_p.S7S|PHYH_ENST00000396920.3_Silent_p.S88S	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	107					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.S107S(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ATTCGGATTTCGAAATGGTCA	0.403													C|||	25	0.00499201	0.0182	0.0014	5008	,	,		20846	0.0		0.0	False		,,,				2504	0.0				p.S7S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|pancreas(1)	c.G21A	10						.	C	,	44,4362	46.7+/-81.2	0,44,2159	157.0	132.0	140.0		21,321	-2.5	0.0	10	dbSNP_132	140	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	PHYH	NM_001037537.1,NM_006214.3	,	0,47,6456	TT,TC,CC		0.0349,0.9986,0.3614	,	7/239,107/339	13336521	47,12959	2203	4300	6503	13376527	SO:0001819	synonymous_variant	5264	exon3				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.321G>A	10.37:g.13336521C>T			13376527	NM_001037537	A8MTS8|B1ALH5	Silent	SNP	ENST00000263038.4	37	CCDS7097.1																																																																																				0.403	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		
PRPF18	8559	broad.mit.edu	37	10	13656058	13656058	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:13656058A>C	ENST00000378572.3	+	8	924	c.764A>C	c.(763-765)aAa>aCa	p.K255T		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	255					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)	p.K255T(1)		central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GATATTATTAAATTCATGTTG	0.284																																					p.K255T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A764C	10						.						54.0	57.0	56.0					10																	13656058		2203	4290	6493	13696064	SO:0001583	missense	8559	exon8			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.764A>C	10.37:g.13656058A>C	ENSP00000367835:p.Lys255Thr		13696064	NM_003675	Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796792	0.90453	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000378544	.	.	.	5.51	5.51	0.81932	Prp18 (3);	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	L	0.60904	1.88	0.80722	D	1	P	0.44281	0.831	P	0.53035	0.716	T	0.74680	-0.3584	9	0.87932	D	0	-30.4584	15.6147	0.76756	1.0:0.0:0.0:0.0	.	255	Q99633	PRP18_HUMAN	T	255;249;249	.	ENSP00000367805:K249T	K	+	2	0	PRPF18	13696064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.316000	0.96319	2.104000	0.64026	0.477000	0.44152	AAA		0.284	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1		
DCLRE1C	64421	broad.mit.edu	37	10	14996006	14996006	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:14996006T>G	ENST00000378278.2	-	1	41	c.4A>C	c.(4-6)Agt>Cgt	p.S2R	DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.S2R|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	2					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S2R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCGAAAGAACTCATAGCGCCG	0.642								Non-homologous end-joining																													p.S2R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4C	10						.						47.0	52.0	51.0					10																	14996006		2203	4300	6503	15036012	SO:0001583	missense	64421	exon1			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.4A>C	10.37:g.14996006T>G	ENSP00000367527:p.Ser2Arg		15036012	NM_001033855	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	32	5.163607	0.94727	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	D;D	0.85013	-1.56;-1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91385	0.7282	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92281	0.5833	10	0.87932	D	0	.	15.6303	0.76904	0.0:0.0:0.0:1.0	.	2;2	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	R	2	ENSP00000367538:S2R;ENSP00000367527:S2R	ENSP00000367527:S2R	S	-	1	0	DCLRE1C	15036012	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	6.998000	0.76277	2.234000	0.73211	0.459000	0.35465	AGT		0.642	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487	
ITGA8	8516	broad.mit.edu	37	10	15726040	15726040	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:15726040G>T	ENST00000378076.3	-	4	884	c.531C>A	c.(529-531)aaC>aaA	p.N177K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	177					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.N177K(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						AGGCGCTGAAGTTCTGAATTG	0.453																																					p.N177K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C531A	10						.						108.0	107.0	107.0					10																	15726040		2203	4300	6503	15766046	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.531C>A	10.37:g.15726040G>T	ENSP00000367316:p.Asn177Lys		15766046	NM_003638	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961110	0.74016	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.54675	0.56	6.03	-1.73	0.08081	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.69358	2.11	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66408	-0.5931	10	0.59425	D	0.04	.	12.1049	0.53807	0.4607:0.0:0.5393:0.0	.	177;177	F5H818;P53708	.;ITA8_HUMAN	K	177	ENSP00000367316:N177K	ENSP00000367316:N177K	N	-	3	2	ITGA8	15766046	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	1.098000	0.31000	-0.080000	0.12685	-0.302000	0.09304	AAC		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
VIM	7431	broad.mit.edu	37	10	17277192	17277192	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:17277192C>T	ENST00000224237.5	+	6	1178	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	VIM_ENST00000544301.1_Missense_Mutation_p.R345C|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	345	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.R345C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGCCAGATGCGTGAAATGGA	0.478																																					p.R345C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	10						.						101.0	89.0	93.0					10																	17277192		2203	4300	6503	17317198	SO:0001583	missense	7431	exon7			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1033C>T	10.37:g.17277192C>T	ENSP00000224237:p.Arg345Cys		17317198	NM_003380	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658455	0.88154	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.89810	-2.57;-2.57	5.91	5.91	0.95273	Filament (1);	0.000000	0.47455	D	0.000221	D	0.95175	0.8436	M	0.83692	2.655	0.80722	D	1	P;P;D;P	0.89917	0.726;0.68;1.0;0.726	P;B;D;P	0.76575	0.528;0.393;0.988;0.528	D	0.95036	0.8174	10	0.87932	D	0	.	20.2904	0.98542	0.0:1.0:0.0:0.0	.	345;332;345;345	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	C	345;345;332	ENSP00000446007:R345C;ENSP00000224237:R345C	ENSP00000224237:R345C	R	+	1	0	VIM	17317198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.930000	0.63462	2.788000	0.95919	0.643000	0.83706	CGT		0.478	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380	
DNAJC1	64215	broad.mit.edu	37	10	22217461	22217461	+	Silent	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:22217461A>C	ENST00000376980.3	-	3	635	c.345T>G	c.(343-345)gtT>gtG	p.V115V	DNAJC1_ENST00000376946.1_Intron	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	115	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.V115V(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CATCCTTTAAAACTTCATAAA	0.313																																					p.V115V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T345G	10						.						97.0	99.0	99.0					10																	22217461		2203	4299	6502	22257467	SO:0001819	synonymous_variant	64215	exon3			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.345T>G	10.37:g.22217461A>C			22257467	NM_022365	B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	A	5.250	0.231545	0.09969	.	.	ENSG00000136770	ENST00000447548	.	.	.	5.33	4.18	0.49190	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53920	-0.8370	4	.	.	.	-7.162	7.6671	0.28437	0.7144:0.1461:0.0:0.1395	.	.	.	.	V	104	.	.	F	-	1	0	DNAJC1	22257467	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.972000	0.40540	0.954000	0.37851	-0.313000	0.08912	TTT		0.313	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365	
GPR158	57512	broad.mit.edu	37	10	25701216	25701216	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:25701216A>T	ENST00000376351.3	+	4	1508	c.1149A>T	c.(1147-1149)aaA>aaT	p.K383N		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	383					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.K383N(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAGTACAAAAGATGTGTCAG	0.458																																					p.K383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1149T	10						.						187.0	178.0	181.0					10																	25701216		2203	4300	6503	25741222	SO:0001583	missense	57512	exon4			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1149A>T	10.37:g.25701216A>T	ENSP00000365529:p.Lys383Asn		25741222	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299720	0.23650	.	.	ENSG00000151025	ENST00000376351	T	0.60171	0.21	5.44	-1.16	0.09678	.	0.230975	0.35495	N	0.003178	T	0.36331	0.0963	L	0.29908	0.895	0.30964	N	0.723273	B	0.20887	0.049	B	0.25759	0.063	T	0.16305	-1.0407	10	0.22706	T	0.39	.	5.0973	0.14740	0.3305:0.1047:0.4621:0.1026	.	383	Q5T848	GP158_HUMAN	N	383	ENSP00000365529:K383N	ENSP00000365529:K383N	K	+	3	2	GPR158	25741222	0.733000	0.28132	0.881000	0.34555	0.776000	0.43924	0.107000	0.15375	-0.263000	0.09378	-0.248000	0.11899	AAA		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
WAC	51322	broad.mit.edu	37	10	28884882	28884882	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:28884882G>T	ENST00000354911.4	+	7	992	c.831G>T	c.(829-831)aaG>aaT	p.K277N	WAC_ENST00000347934.4_Intron|WAC_ENST00000375664.4_Missense_Mutation_p.K232N|WAC_ENST00000428935.1_Missense_Mutation_p.K232N|WAC_ENST00000375646.1_Intron	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	277					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.K277N(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						ACCAGCCAAAGAAATCATTTG	0.448																																					p.K277N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G831T	10						.						133.0	122.0	126.0					10																	28884882		2203	4300	6503	28924888	SO:0001583	missense	51322	exon7			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.831G>T	10.37:g.28884882G>T	ENSP00000346986:p.Lys277Asn		28924888	NM_016628	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013367	0.54468	.	.	ENSG00000095787	ENST00000375664;ENST00000354911;ENST00000428935;ENST00000424454;ENST00000538000;ENST00000414108	T;T;T;T	0.51817	1.86;1.86;1.41;0.69	5.28	5.28	0.74379	.	0.236011	0.42821	D	0.000644	T	0.59770	0.2218	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.61080	0.989;0.981	D;D	0.72625	0.978;0.95	T	0.54403	-0.8299	10	0.29301	T	0.29	-0.9824	18.895	0.92420	0.0:0.0:1.0:0.0	.	232;277	Q9BTA9-2;Q9BTA9	.;WAC_HUMAN	N	232;277;232;232;232;232	ENSP00000364816:K232N;ENSP00000346986:K277N;ENSP00000399706:K232N;ENSP00000415645:K232N	ENSP00000346986:K277N	K	+	3	2	WAC	28924888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.565000	0.67365	2.464000	0.83262	0.455000	0.32223	AAG		0.448	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	
CCDC7	79741	broad.mit.edu	37	10	32740795	32740795	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:32740795G>T	ENST00000362006.5	+	2	768	c.225G>T	c.(223-225)aaG>aaT	p.K75N	CCDC7_ENST00000535327.1_Missense_Mutation_p.K75N|CCDC7_ENST00000545067.1_Missense_Mutation_p.K75N|CCDC7_ENST00000277657.6_Missense_Mutation_p.K75N|CCDC7_ENST00000539197.1_Missense_Mutation_p.K75N|CCDC7_ENST00000537047.1_Missense_Mutation_p.K75N	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	75								p.K75N(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GTAAGACAAAGAACTTACTAC	0.393																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	10						.						67.0	61.0	63.0					10																	32740795		2203	4300	6503	32780801	SO:0001583	missense	221016	exon2			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.225G>T	10.37:g.32740795G>T	ENSP00000355078:p.Lys75Asn		32780801	NM_145023	Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	6.776	0.512077	0.12944	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.44	-1.33	0.09172	.	.	.	.	.	T	0.29976	0.0750	L	0.34521	1.04	0.09310	N	1	B;B	0.27882	0.019;0.192	B;B	0.23018	0.015;0.043	T	0.20840	-1.0263	9	0.56958	D	0.05	-35.2717	3.8645	0.09010	0.2368:0.0:0.3555:0.4077	.	75;75	A6YT98;Q96M83	.;CCDC7_HUMAN	N	75	ENSP00000277657:K75N;ENSP00000355078:K75N;ENSP00000439930:K75N;ENSP00000441041:K75N;ENSP00000440632:K75N;ENSP00000442531:K75N	ENSP00000277657:K75N	K	+	3	2	CCDC7	32780801	0.065000	0.20965	0.002000	0.10522	0.028000	0.11728	0.038000	0.13862	-0.211000	0.10124	-0.136000	0.14681	AAG		0.393	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	
ZNF248	57209	broad.mit.edu	37	10	38121585	38121585	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:38121585T>G	ENST00000395867.3	-	6	1248	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZNF248_ENST00000357328.4_Missense_Mutation_p.K233T|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000494133.1_Intron|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	233					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.K233T(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CTGAGATCTCTTATTTGTAAA	0.358																																					p.K233T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698C	10						.						59.0	58.0	59.0					10																	38121585		2203	4299	6502	38161591	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.698A>C	10.37:g.38121585T>G	ENSP00000379208:p.Lys233Thr		38161591	NM_021045	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.497001	0.26861	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.15372	2.43;2.43	4.65	4.65	0.58169	.	0.286881	0.25094	N	0.033183	T	0.11239	0.0274	N	0.17474	0.49	0.24688	N	0.993324	B	0.31125	0.309	B	0.27608	0.081	T	0.20174	-1.0283	10	0.87932	D	0	.	12.3245	0.55003	0.0:0.0:0.0:1.0	.	233	Q8NDW4	ZN248_HUMAN	T	233	ENSP00000379208:K233T;ENSP00000349882:K233T	ENSP00000349882:K233T	K	-	2	0	ZNF248	38161591	0.005000	0.15991	0.989000	0.46669	0.795000	0.44927	-0.037000	0.12164	2.082000	0.62665	0.460000	0.39030	AAG		0.358	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
ZNF33A	7581	broad.mit.edu	37	10	38343562	38343562	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:38343562T>G	ENST00000458705.2	+	5	665	c.507T>G	c.(505-507)ttT>ttG	p.F169L	ZNF33A_ENST00000432900.2_Missense_Mutation_p.F176L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.F169L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.F170L|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	169					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.F169L(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTGATGAATTTAATGCCTGTG	0.318																																					p.F170L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T510G	10						.						63.0	64.0	63.0					10																	38343562		2203	4299	6502	38383568	SO:0001583	missense	7581	exon5			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.507T>G	10.37:g.38343562T>G	ENSP00000387713:p.Phe169Leu		38383568	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354513	0.24512	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	2.26	2.26	0.28386	.	0.444320	0.16836	N	0.197543	T	0.17023	0.0409	N	0.14661	0.345	0.19775	N	0.999951	B;B;B	0.15141	0.004;0.001;0.012	B;B;B	0.11329	0.006;0.003;0.006	T	0.17501	-1.0367	10	0.52906	T	0.07	.	8.0427	0.30532	0.0:0.0:0.0:1.0	.	176;169;170	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	170;176;169;169	ENSP00000363747:F170L;ENSP00000402467:F176L;ENSP00000387713:F169L;ENSP00000304268:F169L	ENSP00000304268:F169L	F	+	3	2	ZNF33A	38383568	0.003000	0.15002	0.998000	0.56505	0.514000	0.34195	0.885000	0.28227	1.021000	0.39600	0.377000	0.23210	TTT		0.318	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF33A	7581	broad.mit.edu	37	10	38344089	38344089	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:38344089G>A	ENST00000458705.2	+	5	1192	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q	ZNF33A_ENST00000432900.2_Missense_Mutation_p.R352Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.R345Q|ZNF33A_ENST00000374618.3_Missense_Mutation_p.R346Q|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R345Q(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CATCTCACTCGACATCAGAGG	0.403																																					p.R346Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	10						.						121.0	112.0	115.0					10																	38344089		2203	4300	6503	38384095	SO:0001583	missense	7581	exon5			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1034G>A	10.37:g.38344089G>A	ENSP00000387713:p.Arg345Gln		38384095	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	1.478	-0.557926	0.03967	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.26223	3.21;1.75;3.21;3.21	2.05	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.389279	0.15551	N	0.256394	T	0.08358	0.0208	N	0.13235	0.315	0.09310	N	1	P;P;P	0.48089	0.905;0.703;0.7	B;B;B	0.28638	0.075;0.092;0.076	T	0.28004	-1.0057	10	0.13108	T	0.6	.	7.9186	0.29833	0.0:0.2575:0.7425:0.0	.	352;345;346	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Q	346;352;345;345	ENSP00000363747:R346Q;ENSP00000402467:R352Q;ENSP00000387713:R345Q;ENSP00000304268:R345Q	ENSP00000304268:R345Q	R	+	2	0	ZNF33A	38384095	0.000000	0.05858	0.972000	0.41901	0.815000	0.46073	-1.771000	0.01789	1.117000	0.41842	0.460000	0.39030	CGA		0.403	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:43088932C>A	ENST00000359467.3	-	5	1580	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	489					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.R489I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403																																					p.R489I	Melanoma(137;1247 1767 16772 25727 43810)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1466T	10						.						98.0	92.0	94.0					10																	43088932		2203	4299	6502	42408938	SO:0001583	missense	7582	exon5			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.1466G>T	10.37:g.43088932C>A	ENSP00000352444:p.Arg489Ile		42408938	NM_006955	Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453187	0.26161	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.24908	1.83	2.58	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240647	0.21572	N	0.072393	T	0.19127	0.0459	L	0.53671	1.685	0.36585	D	0.873766	B	0.26876	0.162	B	0.21708	0.036	T	0.11717	-1.0576	10	0.49607	T	0.09	.	3.204	0.06659	0.2641:0.5903:0.0:0.1456	.	489	Q06732	ZN33B_HUMAN	I	489;455	ENSP00000352444:R489I	ENSP00000352444:R489I	R	-	2	0	ZNF33B	42408938	0.000000	0.05858	0.997000	0.53966	0.760000	0.43138	-0.204000	0.09425	0.639000	0.30564	0.416000	0.27883	AGA		0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955	
BMS1	9790	broad.mit.edu	37	10	43288429	43288429	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:43288429A>G	ENST00000374518.5	+	8	989	c.926A>G	c.(925-927)gAc>gGc	p.D309G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	309					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.D309G(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						GCCGTGAGTGACATCAGTTTC	0.473																																					p.D309G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A926G	10						.						129.0	130.0	130.0					10																	43288429		2203	4300	6503	42608435	SO:0001583	missense	9790	exon8			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.926A>G	10.37:g.43288429A>G	ENSP00000363642:p.Asp309Gly		42608435	NM_014753	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	a	16.05	3.014052	0.54468	.	.	ENSG00000165733	ENST00000374518	T	0.44083	0.93	5.51	5.51	0.81932	AARP2CN (2);	0.044609	0.85682	D	0.000000	T	0.58538	0.2129	L	0.54908	1.71	0.58432	D	0.999995	D	0.59357	0.985	D	0.65010	0.931	T	0.58999	-0.7536	10	0.51188	T	0.08	.	15.7626	0.78096	1.0:0.0:0.0:0.0	.	309	Q14692	BMS1_HUMAN	G	309	ENSP00000363642:D309G	ENSP00000363642:D309G	D	+	2	0	BMS1	42608435	1.000000	0.71417	0.956000	0.39512	0.754000	0.42855	8.743000	0.91592	2.129000	0.65627	0.467000	0.42956	GAC		0.473	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
HNRNPF	3185	broad.mit.edu	37	10	43882996	43882996	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:43882996C>T	ENST00000544000.1	-	4	744	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	HNRNPF_ENST00000356053.3_Missense_Mutation_p.V113M|HNRNPF_ENST00000357065.4_Missense_Mutation_p.V113M|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.V113M|HNRNPF_ENST00000337970.3_Missense_Mutation_p.V113M	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.V113M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CGAAGCCGCACGAAGCCATCG	0.517																																					p.V113M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G337A	10						.						138.0	113.0	121.0					10																	43882996		2203	4300	6503	43203002	SO:0001583	missense	3185	exon3				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.337G>A	10.37:g.43882996C>T	ENSP00000438061:p.Val113Met		43203002	NM_001098208	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368863	0.42003	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.04	3.14	0.36123	RNA recognition motif domain (2);	0.059234	0.64402	D	0.000003	T	0.70561	0.3238	H	0.97874	4.095	0.58432	D	0.999997	D	0.76494	0.999	D	0.75484	0.986	T	0.78602	-0.2140	10	0.87932	D	0	-27.1198	10.0601	0.42270	0.0:0.8991:0.0:0.1009	.	113	P52597	HNRPF_HUMAN	M	113;113;113;113;113;36	ENSP00000438061:V113M;ENSP00000400433:V113M;ENSP00000348345:V113M;ENSP00000349573:V113M;ENSP00000338477:V113M	ENSP00000338477:V113M	V	-	1	0	HNRNPF	43203002	1.000000	0.71417	0.994000	0.49952	0.772000	0.43724	4.234000	0.58658	1.293000	0.44690	-0.136000	0.14681	GTG		0.517	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
GDF2	2658	broad.mit.edu	37	10	48414022	48414022	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:48414022G>A	ENST00000249598.1	-	2	1005	c.846C>T	c.(844-846)agC>agT	p.S282S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	282					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TCTTGAGCACGCTCTCTTGTT	0.577																																					p.S282S												.	.	0			c.C846T	10						.						94.0	78.0	83.0					10																	48414022		2203	4300	6503	48034028	SO:0001819	synonymous_variant	2658	exon2			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.846C>T	10.37:g.48414022G>A			48034028	NM_016204	Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	CCDS7219.1																																																																																				0.577	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204	
MAPK8	5599	broad.mit.edu	37	10	49618104	49618104	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:49618104C>A	ENST00000374189.1	+	5	524	c.343C>A	c.(343-345)Ctt>Att	p.L115I	MAPK8_ENST00000374182.3_Missense_Mutation_p.L115I|MAPK8_ENST00000374174.1_Missense_Mutation_p.L115I|MAPK8_ENST00000395611.3_Missense_Mutation_p.L115I|MAPK8_ENST00000360332.3_Missense_Mutation_p.L115I			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	115	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.L115I(1)|p.L115F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GGATGCAAATCTTTGCCAAGT	0.383																																					p.L115I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C343A	10						.						177.0	163.0	168.0					10																	49618104		2203	4300	6503	49288110	SO:0001583	missense	5599	exon4			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.343C>A	10.37:g.49618104C>A	ENSP00000363304:p.Leu115Ile		49288110	NM_002750	B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716924	0.89205	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.97583	1.0112	10	0.87932	D	0	.	19.547	0.95302	0.0:1.0:0.0:0.0	.	115;115;115;115;115	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	I	115;32;115;115;115;115;115;115;115;115	ENSP00000387936:L115I;ENSP00000393223:L32I;ENSP00000363304:L115I;ENSP00000397729:L115I;ENSP00000363297:L115I;ENSP00000363294:L115I;ENSP00000353483:L115I;ENSP00000363291:L115I;ENSP00000363289:L115I;ENSP00000378974:L115I	ENSP00000353483:L115I	L	+	1	0	MAPK8	49288110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.927000	0.63440	2.695000	0.91970	0.650000	0.86243	CTT		0.383	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1		
CHAT	1103	broad.mit.edu	37	10	50859978	50859978	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:50859978G>A	ENST00000337653.2	+	11	1713	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	CHAT_ENST00000395559.2_Silent_p.G402G|CHAT_ENST00000339797.1_Silent_p.G402G|CHAT_ENST00000351556.3_Silent_p.G402G|CHAT_ENST00000395562.2_Silent_p.G438G|CHAT_ENST00000455728.2_Silent_p.G402G	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	520	Coenzyme A binding.				adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.G520G(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ACAACTATGGGAAAACATTCA	0.413																																					p.G402G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1206A	10						.						68.0	64.0	65.0					10																	50859978		2203	4300	6503	50529984	SO:0001819	synonymous_variant	1103	exon11			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1560G>A	10.37:g.50859978G>A			50529984	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	CCDS7232.1																																																																																				0.413	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
PRKG1	5592	broad.mit.edu	37	10	53564439	53564439	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:53564439A>C	ENST00000401604.2	+	4	836	c.642A>C	c.(640-642)gaA>gaC	p.E214D	PRKG1_ENST00000373980.4_Missense_Mutation_p.E229D|PRKG1_ENST00000373985.1_Missense_Mutation_p.E202D			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	214	cGMP-binding, high affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)	p.E229D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGTATATGGAATTTTTAAAAA	0.383																																					p.E229D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A687C	10						.						86.0	79.0	82.0					10																	53564439		2203	4300	6503	53234445	SO:0001583	missense	5592	exon4				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.642A>C	10.37:g.53564439A>C	ENSP00000384200:p.Glu214Asp		53234445	NM_006258	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	A	6.260	0.416108	0.11870	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.29	0.147	0.14838	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.058843	0.64402	D	0.000003	T	0.09512	0.0234	N	0.01874	-0.695	0.39931	D	0.974285	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23084	-1.0198	10	0.13108	T	0.6	-21.7804	8.9779	0.35946	0.5754:0.0:0.4246:0.0	.	229;214	Q13976-2;Q13976	.;KGP1_HUMAN	D	214;202;229;87	ENSP00000384200:E214D;ENSP00000363097:E202D;ENSP00000363092:E229D;ENSP00000363087:E87D	ENSP00000363087:E87D	E	+	3	2	PRKG1	53234445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.798000	0.38814	0.069000	0.16605	0.402000	0.26972	GAA		0.383	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
DKK1	22943	broad.mit.edu	37	10	54076398	54076398	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:54076398A>C	ENST00000373970.3	+	4	771	c.632A>C	c.(631-633)aAa>aCa	p.K211T	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	211	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						AAGATCTGTAAACCTGTCCTG	0.463																																					p.K211T												.	.	0			c.A632C	10						.						129.0	118.0	121.0					10																	54076398		2203	4300	6503	53746404	SO:0001583	missense	22943	exon4				CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.632A>C	10.37:g.54076398A>C	ENSP00000363081:p.Lys211Thr		53746404	NM_012242	B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546344	0.86022	.	.	ENSG00000107984	ENST00000373970	T	0.60299	0.2	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	L	0.50993	1.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69569	-0.5110	10	0.39692	T	0.17	.	15.8392	0.78831	1.0:0.0:0.0:0.0	.	211	O94907	DKK1_HUMAN	T	211	ENSP00000363081:K211T	ENSP00000363081:K211T	K	+	2	0	DKK1	53746404	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.160000	0.77495	2.225000	0.72522	0.459000	0.35465	AAA		0.463	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
PCDH15	65217	broad.mit.edu	37	10	55582852	55582852	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:55582852C>A	ENST00000320301.6	-	33	5028	c.4634G>T	c.(4633-4635)aGa>aTa	p.R1545I	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1542I|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1522I|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1476I|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1505I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1547I|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1545					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.R1552I(2)|p.R1545I(2)|p.R1552K(1)|p.R1545K(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)				AAAATCTGTTCTCTGTGAAAT	0.393										HNSCC(58;0.16)																											p.R1505I												.	.	6	Substitution - Missense(6)	large_intestine(4)|upper_aerodigestive_tract(2)	c.G4514T	10						.						86.0	93.0	90.0					10																	55582852		2203	4297	6500	55252858	SO:0001583	missense	65217	exon31			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.4634G>T	10.37:g.55582852C>A	ENSP00000322604:p.Arg1545Ile		55252858	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	5.722	0.317719	0.10845	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.59906	0.28;0.26;0.3;0.27;0.26;0.23	5.91	0.533	0.17121	.	.	.	.	.	T	0.60534	0.2276	M	0.65498	2.005	0.39324	D	0.965307	P;B;B;B;B;P;P;B	0.49090	0.919;0.04;0.047;0.04;0.399;0.7;0.859;0.022	P;B;B;B;B;B;P;B	0.49708	0.62;0.018;0.04;0.018;0.071;0.288;0.62;0.018	T	0.60850	-0.7181	9	0.48119	T	0.1	.	10.663	0.45712	0.0:0.5206:0.0:0.4794	.	1522;1545;1547;1552;1476;1505;1542;1545	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	I	1505;1547;1522;1545;1542;1552;1476	ENSP00000378820:R1505I;ENSP00000354950:R1547I;ENSP00000378821:R1522I;ENSP00000322604:R1545I;ENSP00000378818:R1542I;ENSP00000412628:R1476I	ENSP00000322604:R1545I	R	-	2	0	PCDH15	55252858	0.939000	0.31865	0.008000	0.14137	0.030000	0.12068	1.257000	0.32932	-0.147000	0.11254	-0.157000	0.13467	AGA		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
ANK3	288	broad.mit.edu	37	10	61834043	61834043	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:61834043G>T	ENST00000280772.2	-	37	6787	c.6596C>A	c.(6595-6597)aCt>aAt	p.T2199N	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2199					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.T2199N(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						TTCCATAAAAGTAGGTGAAGG	0.448																																					p.T2199N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6596A	10						.						123.0	123.0	123.0					10																	61834043		2203	4300	6503	61504049	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.6596C>A	10.37:g.61834043G>T	ENSP00000280772:p.Thr2199Asn		61504049	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	6.538	0.467546	0.12402	.	.	ENSG00000151150	ENST00000280772	T	0.63255	-0.03	6.05	6.05	0.98169	.	0.546643	0.15276	N	0.270975	T	0.55000	0.1893	N	0.22421	0.69	0.41184	D	0.986254	B	0.27068	0.167	B	0.26310	0.068	T	0.52019	-0.8631	10	0.56958	D	0.05	.	20.6032	0.99464	0.0:0.0:1.0:0.0	.	2199	Q12955	ANK3_HUMAN	N	2199	ENSP00000280772:T2199N	ENSP00000280772:T2199N	T	-	2	0	ANK3	61504049	0.512000	0.26186	0.009000	0.14445	0.982000	0.71751	3.816000	0.55658	2.875000	0.98604	0.643000	0.83706	ACT		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ARID5B	84159	broad.mit.edu	37	10	63817044	63817044	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:63817044A>G	ENST00000279873.7	+	6	1425	c.1015A>G	c.(1015-1017)Ata>Gta	p.I339V	ARID5B_ENST00000309334.5_Missense_Mutation_p.I96V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	339	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.I339V(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GAAAACGCCGATAGAACGAAT	0.368																																					p.I339V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1015G	10						.						104.0	112.0	109.0					10																	63817044		2203	4300	6503	63487050	SO:0001583	missense	84159	exon6			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1015A>G	10.37:g.63817044A>G	ENSP00000279873:p.Ile339Val		63487050	NM_032199	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283872	0.80803	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.64085	-0.08;-0.08	5.96	5.96	0.96718	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.62209	1.925	0.80722	D	1	P;P	0.50943	0.94;0.761	P;P	0.61003	0.882;0.822	T	0.75408	-0.3328	10	0.49607	T	0.09	-16.4409	16.4484	0.83959	1.0:0.0:0.0:0.0	.	96;339	Q14865-2;Q14865	.;ARI5B_HUMAN	V	339;96	ENSP00000279873:I339V;ENSP00000308862:I96V	ENSP00000279873:I339V	I	+	1	0	ARID5B	63487050	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	8.962000	0.93254	2.285000	0.76669	0.533000	0.62120	ATA		0.368	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
TET1	80312	broad.mit.edu	37	10	70333934	70333934	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:70333934G>T	ENST00000373644.4	+	2	2048	c.1839G>T	c.(1837-1839)aaG>aaT	p.K613N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	613	Sufficient for binding to genomic CpG islands.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.K613N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGAACAGAAAGAACAGCCATC	0.458																																					p.K613N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1839T	10						.						81.0	86.0	84.0					10																	70333934		2203	4300	6503	70003940	SO:0001583	missense	80312	exon2			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1839G>T	10.37:g.70333934G>T	ENSP00000362748:p.Lys613Asn		70003940	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973686	0.53720	.	.	ENSG00000138336	ENST00000373644	T	0.09911	2.93	5.27	2.0	0.26442	Zinc finger, CXXC-type (2);	0.169907	0.36665	N	0.002474	T	0.24160	0.0585	M	0.66939	2.045	0.27877	N	0.939828	D	0.89917	1.0	D	0.85130	0.997	T	0.02683	-1.1124	10	0.72032	D	0.01	.	4.9337	0.13930	0.5335:0.0:0.4665:0.0	.	613	Q8NFU7	TET1_HUMAN	N	613	ENSP00000362748:K613N	ENSP00000362748:K613N	K	+	3	2	TET1	70003940	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.212000	0.32394	0.613000	0.30089	0.467000	0.42956	AAG		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
TET1	80312	broad.mit.edu	37	10	70451194	70451194	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:70451194G>A	ENST00000373644.4	+	12	6243	c.6034G>A	c.(6034-6036)Gca>Aca	p.A2012T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2012					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.A2012T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTGGCCATCGCACCTGCTCA	0.552																																					p.A2012T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6034A	10						.						131.0	123.0	126.0					10																	70451194		2203	4300	6503	70121200	SO:0001583	missense	80312	exon12			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6034G>A	10.37:g.70451194G>A	ENSP00000362748:p.Ala2012Thr		70121200	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496312	0.85069	.	.	ENSG00000138336	ENST00000373644	T	0.14766	2.48	5.6	5.6	0.85130	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.299915	0.36134	N	0.002768	T	0.39332	0.1074	M	0.78049	2.395	0.42665	D	0.993495	D	0.89917	1.0	D	0.91635	0.999	T	0.15350	-1.0440	10	0.87932	D	0	.	14.7863	0.69806	0.0:0.0:0.8557:0.1443	.	2012	Q8NFU7	TET1_HUMAN	T	2012	ENSP00000362748:A2012T	ENSP00000362748:A2012T	A	+	1	0	TET1	70121200	1.000000	0.71417	0.668000	0.29813	0.657000	0.38888	7.406000	0.80017	2.806000	0.96561	0.655000	0.94253	GCA		0.552	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
PALD1	27143	broad.mit.edu	37	10	72294540	72294540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:72294540G>T	ENST00000263563.6	+	10	1436	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	390						cytosol (GO:0005829)		p.E390*(1)									TGACCTGAAAGAAGTGGTCTT	0.577																																					p.E390X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1168T	10						.						72.0	67.0	69.0					10																	72294540		2203	4300	6503	71964546	SO:0001587	stop_gained	27143	exon10			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1168G>T	10.37:g.72294540G>T	ENSP00000263563:p.Glu390*		71964546	NM_014431	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Nonsense_Mutation	SNP	ENST00000263563.6	37	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	38	7.235509	0.98154	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	.	.	.	5.34	4.44	0.53790	.	0.099226	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.3082	13.7744	0.63044	0.0747:0.0:0.9253:0.0	.	.	.	.	X	390	.	ENSP00000263563:E390X	E	+	1	0	KIAA1274	71964546	1.000000	0.71417	0.394000	0.26270	0.449000	0.32228	6.118000	0.71583	1.385000	0.46445	0.563000	0.77884	GAA		0.577	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431	
CDH23	64072	broad.mit.edu	37	10	73326600	73326600	+	Missense_Mutation	SNP	C	C	A	rs371933124		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:73326600C>A	ENST00000224721.6	+	6	551	c.546C>A	c.(544-546)ttC>ttA	p.F182L	CDH23_ENST00000398809.4_Missense_Mutation_p.F177L|CDH23_ENST00000299366.7_Missense_Mutation_p.F222L|CDH23_ENST00000461841.3_Missense_Mutation_p.F222L|CDH23_ENST00000398842.3_Missense_Mutation_p.F177L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.F177L(2)|p.F182L(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTCCCAATTCTTCGCCATTG	0.617																																					p.F177L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C531A	10						.						48.0	51.0	50.0					10																	73326600		2031	4183	6214	72996606	SO:0001583	missense	64072	exon7			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.546C>A	10.37:g.73326600C>A	ENSP00000224721:p.Phe182Leu		72996606	NM_052836	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	C	13.13	2.144130	0.37825	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01665	4.7;4.7	5.43	3.2	0.36748	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.02156	0.0067	N	0.04090	-0.28	0.80722	D	1	B;D;B;D	0.69078	0.419;0.997;0.029;0.997	B;D;B;D	0.78314	0.168;0.91;0.01;0.991	T	0.68735	-0.5330	10	0.11485	T	0.65	.	7.956	0.30042	0.1397:0.716:0.0:0.1443	.	177;177;177;177	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	L	182;177;177;177;177;182;182;118	ENSP00000381789:F177L;ENSP00000381822:F177L	ENSP00000224721:F182L	F	+	3	2	CDH23	72996606	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	1.909000	0.39917	1.277000	0.44412	0.561000	0.74099	TTC		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73461952	73461952	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:73461952C>T	ENST00000224721.6	+	22	2591	c.2586C>T	c.(2584-2586)gtC>gtT	p.V862V	CDH23_ENST00000299366.7_Silent_p.V902V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	857	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V862V(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCAAAATCGTCGTCTCTGTTA	0.652																																					p.V857V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2571T	10						.						118.0	137.0	130.0					10																	73461952		2125	4202	6327	73131958	SO:0001819	synonymous_variant	64072	exon22			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2586C>T	10.37:g.73461952C>T			73131958	NM_022124	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73560498	73560498	+	Missense_Mutation	SNP	G	G	A	rs41281336	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:73560498G>A	ENST00000224721.6	+	52	7488	c.7483G>A	c.(7483-7485)Gaa>Aaa	p.E2495K	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E250K	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2490	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.E2495K(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACCGTCGCGAAAATTCAGT	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18715	0.0		0.002	False		,,,				2504	0.0				p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	10						.	G	LYS/GLU,LYS/GLU,LYS/GLU	1,3991		0,1,1995	51.0	55.0	54.0		748,748,7468	5.5	1.0	10	dbSNP_127	54	4,8296		0,4,4146	yes	missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	56,56,56	0,5,6141	AA,AG,GG		0.0482,0.0251,0.0407	probably-damaging,probably-damaging,probably-damaging	250/1115,250/1080,2490/3355	73560498	5,12287	1996	4150	6146	73230504	SO:0001583	missense	64072	exon6			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7483G>A	10.37:g.73560498G>A	ENSP00000224721:p.Glu2495Lys		73230504	NM_001171933	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		6	0.0027472527472527475	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	2	0.002638522427440633	G	35	5.422533	0.96111	2.51E-4	4.82E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.53857	0.6	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.80764	0.994;0.895	T	0.50154	-0.8861	10	0.11794	T	0.64	.	19.3982	0.94617	0.0:0.0:1.0:0.0	rs41281336	2490;2490	E9PEX1;Q9H251	.;CAD23_HUMAN	K	2495;2490;2493;250	ENSP00000381768:E250K	ENSP00000224721:E2495K	E	+	1	0	CDH23	73230504	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.199000	0.95003	2.584000	0.87258	0.585000	0.79938	GAA		0.562	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
OIT3	170392	broad.mit.edu	37	10	74684270	74684270	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:74684270T>G	ENST00000334011.5	+	7	1453	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	412	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L412R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACCCTCAAGCTTCGTGACTCC	0.542																																					p.L412R	Colon(7;19 345 13446 17537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1235G	10						.						131.0	120.0	124.0					10																	74684270		2203	4300	6503	74354276	SO:0001583	missense	170392	exon7				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1235T>G	10.37:g.74684270T>G	ENSP00000333900:p.Leu412Arg		74354276	NM_152635	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322532	0.81580	.	.	ENSG00000138315	ENST00000334011	D	0.86030	-2.06	5.26	5.26	0.73747	Zona pellucida sperm-binding protein (3);	0.000000	0.50627	D	0.000116	D	0.92087	0.7492	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93146	0.6545	10	0.87932	D	0	-16.1712	15.1596	0.72771	0.0:0.0:0.0:1.0	.	412	Q8WWZ8	OIT3_HUMAN	R	412	ENSP00000333900:L412R	ENSP00000333900:L412R	L	+	2	0	OIT3	74354276	1.000000	0.71417	0.918000	0.36340	0.962000	0.63368	7.739000	0.84976	1.989000	0.58080	0.460000	0.39030	CTT		0.542	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
P4HA1	5033	broad.mit.edu	37	10	74831898	74831898	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:74831898T>G	ENST00000307116.2	-	4	330	c.214A>C	c.(214-216)Aaa>Caa	p.K72Q	P4HA1_ENST00000373008.2_Missense_Mutation_p.K72Q|P4HA1_ENST00000394890.2_Missense_Mutation_p.K72Q|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000263556.3_Missense_Mutation_p.K72Q|P4HA1_ENST00000440381.1_Missense_Mutation_p.K72Q|P4HA1_ENST00000412021.2_Missense_Mutation_p.K72Q			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	72					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.K72Q(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)	TCTGGATCTTTTGTCGCTGTA	0.358																																					p.K72Q	Colon(147;367 2405 2662 52127)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A214C	10						.						150.0	148.0	148.0					10																	74831898		2203	4300	6503	74501904	SO:0001583	missense	5033	exon5				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.214A>C	10.37:g.74831898T>G	ENSP00000307318:p.Lys72Gln		74501904	NM_001142595	C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37		.	.	.	.	.	.	.	.	.	.	T	12.67	2.007306	0.35415	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.44482	0.93;0.92;0.93;0.93;0.92;0.93	5.21	2.87	0.33458	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.147775	0.64402	D	0.000010	T	0.23289	0.0563	N	0.13098	0.295	0.43593	D	0.995941	B;B;B	0.19583	0.018;0.016;0.037	B;B;B	0.21360	0.021;0.034;0.034	T	0.04386	-1.0955	10	0.21540	T	0.41	-14.3861	9.3069	0.37881	0.0:0.1459:0.0:0.8541	.	72;72;72	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Q	72	ENSP00000307318:K72Q;ENSP00000362099:K72Q;ENSP00000411688:K72Q;ENSP00000378353:K72Q;ENSP00000263556:K72Q;ENSP00000414464:K72Q	ENSP00000263556:K72Q	K	-	1	0	P4HA1	74501904	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.104000	0.57790	0.446000	0.26666	0.402000	0.26972	AAA		0.358	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917	
NUDT13	25961	broad.mit.edu	37	10	74881983	74881983	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:74881983G>A	ENST00000357321.4	+	4	392	c.274G>A	c.(274-276)Gat>Aat	p.D92N	NUDT13_ENST00000544879.1_5'UTR|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.D92N|NUDT13_ENST00000349051.5_Missense_Mutation_p.D92N|NUDT13_ENST00000488223.1_3'UTR	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13									p.D92N(1)		large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					AAGAATAGAAGATTCTGTGCT	0.433																																					p.D92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	10						.						177.0	167.0	171.0					10																	74881983		2203	4300	6503	74551989	SO:0001583	missense	25961	exon4			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.274G>A	10.37:g.74881983G>A	ENSP00000349874:p.Asp92Asn		74551989	NM_015901		Missense_Mutation	SNP	ENST00000357321.4	37	CCDS31220.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551129	0.86127	.	.	ENSG00000166321	ENST00000357321;ENST00000349051;ENST00000372997	T;T;T	0.28666	1.6;1.6;1.6	6.08	4.12	0.48240	NADH pyrophosphatase-like, N-terminal (1);	0.296331	0.41712	D	0.000825	T	0.38081	0.1027	L	0.60455	1.87	0.80722	D	1	D;D;B	0.55172	0.96;0.97;0.163	P;P;B	0.53401	0.648;0.725;0.122	T	0.17501	-1.0367	10	0.49607	T	0.09	.	7.238	0.26079	0.0771:0.1352:0.6644:0.1233	.	92;92;92	Q86X67-2;Q5SQM6;Q86X67	.;.;NUD13_HUMAN	N	92	ENSP00000349874:D92N;ENSP00000335326:D92N;ENSP00000362088:D92N	ENSP00000335326:D92N	D	+	1	0	NUDT13	74551989	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.430000	0.44766	1.578000	0.49821	0.655000	0.94253	GAT		0.433	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048614.1	NM_015901	
ECD	11319	broad.mit.edu	37	10	74897827	74897827	+	Splice_Site	SNP	C	C	A	rs34313575	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:74897827C>A	ENST00000372979.4	-	12	1629	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	ECD_ENST00000454759.2_Splice_Site_p.E432*|ECD_ENST00000430082.2_Splice_Site_p.E508*	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	475					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.E475*(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)					TCAGAAGGTTCTCTGCAATAT	0.313																																					p.E432X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1294T	10						.						47.0	46.0	46.0					10																	74897827		2203	4300	6503	74567833	SO:0001630	splice_region_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.1422-1G>T	10.37:g.74897827C>A			74567833	NM_001135753	C9JX46|E9PAW8	Nonsense_Mutation	SNP	ENST00000372979.4	37	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	C	38	6.825452	0.97865	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	.	.	.	5.96	4.11	0.48088	.	0.809523	0.12132	N	0.496645	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-2.7707	10.0653	0.42299	0.0:0.8384:0.0:0.1616	.	.	.	.	X	475;508;432	.	ENSP00000362070:E475X	E	-	1	0	ECD	74567833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.879000	0.28146	1.511000	0.48818	0.650000	0.86243	GAA		0.313	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	Nonsense_Mutation
MYOZ1	58529	broad.mit.edu	37	10	75397517	75397517	+	Missense_Mutation	SNP	G	G	T	rs139515548		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:75397517G>T	ENST00000359322.4	-	3	601	c.237C>A	c.(235-237)ttC>ttA	p.F79L		NM_021245.3	NP_067068.1			myozenin 1									p.F79L(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					AGCTGTCAGAGAAAACATCAG	0.483																																					p.F79L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C237A	10						.	G	LEU/PHE	0,4406		0,0,2203	137.0	128.0	131.0		237	1.3	1.0	10	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOZ1	NM_021245.2	22	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	79/300	75397517	1,13005	2203	4300	6503	75067523	SO:0001583	missense	58529	exon3			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.237C>A	10.37:g.75397517G>T	ENSP00000352272:p.Phe79Leu		75067523	NM_021245		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137475	0.77775	0.0	1.16E-4	ENSG00000177791	ENST00000359322	T	0.63417	-0.04	6.17	1.28	0.21552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.71581	2.175	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	T	0.71523	-0.4567	10	0.56958	D	0.05	-13.3648	9.312	0.37910	0.3941:0.0:0.6059:0.0	.	79	Q9NP98	MYOZ1_HUMAN	L	79	ENSP00000352272:F79L	ENSP00000352272:F79L	F	-	3	2	MYOZ1	75067523	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.780000	0.55386	0.192000	0.20272	-0.793000	0.03317	TTC		0.483	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
KAT6B	23522	broad.mit.edu	37	10	76788342	76788342	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:76788342C>T	ENST00000287239.4	+	18	4249	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	KAT6B_ENST00000372725.1_Missense_Mutation_p.R962C|KAT6B_ENST00000372714.1_Missense_Mutation_p.R962C|KAT6B_ENST00000372711.1_Missense_Mutation_p.R1071C|KAT6B_ENST00000372724.1_Missense_Mutation_p.R962C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1254					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1254C(1)									AGGAACAAAGCGCGGTCTATC	0.443																																					p.R1254C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3760T	10						.						80.0	79.0	80.0					10																	76788342		2203	4300	6503	76458348	SO:0001583	missense	23522	exon18			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3760C>T	10.37:g.76788342C>T	ENSP00000287239:p.Arg1254Cys		76458348	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352834	0.41700	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.84442	-1.79;-1.79;-1.85;-1.79;-1.8	5.22	5.22	0.72569	.	0.280615	0.25596	N	0.029581	D	0.86104	0.5853	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.976;0.996	P;P;P	0.56916	0.809;0.644;0.65	D	0.88078	0.2805	10	0.87932	D	0	-1.5229	16.9383	0.86209	0.0:1.0:0.0:0.0	.	1071;962;1254	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	C	962;962;1254;962;1071	ENSP00000361810:R962C;ENSP00000361809:R962C;ENSP00000287239:R1254C;ENSP00000361799:R962C;ENSP00000361796:R1071C	ENSP00000287239:R1254C	R	+	1	0	KAT6B	76458348	1.000000	0.71417	0.963000	0.40424	0.557000	0.35523	6.914000	0.75764	2.437000	0.82529	0.491000	0.48974	CGC		0.443	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KCNMA1	3778	broad.mit.edu	37	10	78785210	78785210	+	Intron	SNP	C	C	T	rs372858979		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:78785210C>T	ENST00000286628.8	-	16	1928				KCNMA1_ENST00000406533.3_Intron|KCNMA1_ENST00000372440.1_Intron|KCNMA1_ENST00000286627.5_Intron|KCNMA1_ENST00000354353.5_Intron|KCNMA1_ENST00000372443.1_Intron|KCNMA1_ENST00000404857.1_Intron|KCNMA1_ENST00000404771.3_Intron	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATACCGCTTTCGGCTTCTGCA	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10725	0.0		0.0	False		,,,				2504	0.0				p.R645Q												.	.	0			c.G1934A	10						.	C	GLN/ARG,,,	1,3671		0,1,1835	84.0	82.0	82.0		1934,,,	5.9	1.0	10		82	0,8162		0,0,4081	no	missense,intron,intron,intron	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	43,,,	0,1,5916	TT,TC,CC		0.0,0.0272,0.0085	,,,	645/1183,,,	78785210	1,11833	1836	4081	5917	78455216	SO:0001627	intron_variant	3778	exon17			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.1928+2370G>A	10.37:g.78785210C>T			78455216	NM_001014797	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37																																																																																					0.373	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
ANXA11	311	broad.mit.edu	37	10	81923335	81923335	+	Silent	SNP	G	G	A	rs574331613		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:81923335G>A	ENST00000438331.1	-	11	1466	c.984C>T	c.(982-984)agC>agT	p.S328S	ANXA11_ENST00000535999.1_Silent_p.S328S|ANXA11_ENST00000265447.4_Silent_p.S328S|ANXA11_ENST00000372231.3_Silent_p.S328S|ANXA11_ENST00000422982.3_Silent_p.S328S|ANXA11_ENST00000360615.4_Silent_p.S328S|ANXA11_ENST00000537102.1_Silent_p.S295S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	328					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.S328S(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTGATGTGTCGCTTCGAATGG	0.527													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17266	0.0		0.0	False		,,,				2504	0.0				p.S328S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C984T	10						.						44.0	46.0	46.0					10																	81923335		2198	4290	6488	81913315	SO:0001819	synonymous_variant	311	exon11			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.984C>T	10.37:g.81923335G>A			81913315	NM_145869	B4DVE7	Silent	SNP	ENST00000438331.1	37	CCDS7364.1																																																																																				0.527	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869	
PTEN	5728	broad.mit.edu	37	10	89624245	89624245	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:89624245G>T	ENST00000371953.3	+	1	1376	c.19G>T	c.(19-21)Gag>Tag	p.E7*	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	7					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.E7*(9)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CATCATCAAAGAGATCGTTAG	0.488		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																											p.E7X		yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	PTEN,central_nervous_system,brain,Substitution - Nonsense,0	.	60	Whole gene deletion(37)|Unknown(13)|Substitution - Nonsense(9)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|endometrium(5)|ovary(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	c.G19T	10						.						162.0	159.0	160.0					10																	89624245		2203	4300	6503	89614225	SO:0001587	stop_gained	5728	exon1	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.19G>T	10.37:g.89624245G>T	ENSP00000361021:p.Glu7*		89614225	NM_000314	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	49	15.654251	0.99841	.	.	ENSG00000171862	ENST00000371953	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.2094	16.4773	0.84136	0.0:0.0:1.0:0.0	.	.	.	.	X	7	.	.	E	+	1	0	PTEN	89614225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.961000	0.76042	2.160000	0.67779	0.561000	0.74099	GAG		0.488	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
LIPF	8513	broad.mit.edu	37	10	90427393	90427393	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:90427393T>G	ENST00000238983.4	+	3	219	c.173T>G	c.(172-174)aTt>aGt	p.I58S	LIPF_ENST00000394375.3_Missense_Mutation_p.I68S|LIPF_ENST00000355843.2_Missense_Mutation_p.I68S|LIPF_ENST00000608620.1_Missense_Mutation_p.I58S	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	58					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.I58S(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	GATGGTTATATTCTTGAAGTC	0.333																																					p.I58S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T173G	10						.						86.0	102.0	96.0					10																	90427393		2203	4295	6498	90417373	SO:0001583	missense	8513	exon3			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.173T>G	10.37:g.90427393T>G	ENSP00000238983:p.Ile58Ser		90417373	NM_004190	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405959	0.62288	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;T	0.88509	-2.39;-2.39;-0.51	4.64	4.64	0.57946	Partial AB-hydrolase lipase domain (1);	0.000000	0.53938	D	0.000047	D	0.96250	0.8777	H	0.97635	4.045	0.47819	D	0.999522	P;D;D;D;D	0.89917	0.952;1.0;1.0;0.996;1.0	D;D;D;D;D	0.81914	0.958;0.994;0.993;0.977;0.995	D	0.97222	0.9878	10	0.66056	D	0.02	-14.5144	13.1566	0.59520	0.0:0.0:0.0:1.0	.	58;68;68;68;58	Q5VXI8;F5H1P4;B7Z723;Q658L8;P07098	.;.;.;.;LIPG_HUMAN	S	68;58;58	ENSP00000377900:I68S;ENSP00000238983:I58S;ENSP00000348101:I58S	ENSP00000238983:I58S	I	+	2	0	LIPF	90417373	0.989000	0.36119	0.942000	0.38095	0.713000	0.41058	4.767000	0.62286	1.942000	0.56320	0.528000	0.53228	ATT		0.333	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
LIPF	8513	broad.mit.edu	37	10	90438396	90438396	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:90438396T>G	ENST00000238983.4	+	10	1201	c.1155T>G	c.(1153-1155)gtT>gtG	p.V385V	LIPF_ENST00000394375.3_Silent_p.V395V|LIPF_ENST00000355843.2_Silent_p.V362V|LIPF_ENST00000608620.1_Silent_p.V352V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	385					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.V385V(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTCAAGAAGTTTACAATGACA	0.338																																					p.V385V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1155G	10						.						62.0	67.0	65.0					10																	90438396		2203	4300	6503	90428376	SO:0001819	synonymous_variant	8513	exon10			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1155T>G	10.37:g.90438396T>G			90428376	NM_004190	B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	ENST00000238983.4	37	CCDS7389.1																																																																																				0.338	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1		
FAS	355	broad.mit.edu	37	10	90767572	90767572	+	Silent	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:90767572T>C	ENST00000355279.2	+	3	312	c.312T>C	c.(310-312)tgT>tgC	p.C104C	FAS_ENST00000357339.2_Silent_p.C104C|FAS_ENST00000355740.2_Silent_p.C104C|FAS_ENST00000352159.4_Silent_p.C104C|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C104C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	GCAGAAGATGTAGATTGTGTG	0.413																																					p.C104C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T312C	10						.						145.0	136.0	139.0					10																	90767572		2203	4300	6503	90757552	SO:0001819	synonymous_variant	355	exon3			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.312T>C	10.37:g.90767572T>C			90757552	NM_000043	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000355279.2	37	CCDS7395.1																																																																																				0.413	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2		
FAS	355	broad.mit.edu	37	10	90774124	90774124	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:90774124A>C	ENST00000355740.2	+	9	1145	c.925A>C	c.(925-927)Aaa>Caa	p.K309Q	RP11-399O19.9_ENST00000562983.1_RNA|FAS_ENST00000357339.2_Missense_Mutation_p.K288Q|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000355279.2_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K309Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TCTTGCAGAGAAAATTCAGAC	0.348																																					p.K309Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A925C	10						.						66.0	69.0	68.0					10																	90774124		2203	4299	6502	90764104	SO:0001583	missense	355	exon9			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355740.2:c.925A>C	10.37:g.90774124A>C	ENSP00000347979:p.Lys309Gln		90764104	NM_000043	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000355740.2	37	CCDS7393.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678318	0.29783	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000357339	D;D	0.86562	-2.14;-2.14	4.55	2.19	0.27852	Death (3);DEATH-like (2);	0.899723	0.09265	N	0.825966	D	0.87034	0.6077	M	0.70275	2.135	0.09310	N	1	P;D	0.58268	0.955;0.982	B;P	0.47827	0.422;0.558	T	0.76307	-0.3007	10	0.62326	D	0.03	-26.4853	5.6841	0.17792	0.7831:0.0:0.2169:0.0	.	288;309	P25445-6;P25445	.;TNR6_HUMAN	Q	336;309;288	ENSP00000347979:K309Q;ENSP00000349896:K288Q	ENSP00000347979:K309Q	K	+	1	0	FAS	90764104	0.001000	0.12720	0.004000	0.12327	0.071000	0.16799	0.960000	0.29253	0.806000	0.34183	0.528000	0.53228	AAA		0.348	FAS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049274.3		
KIF20B	9585	broad.mit.edu	37	10	91497519	91497519	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:91497519G>A	ENST00000371728.3	+	20	2986	c.2921G>A	c.(2920-2922)aGc>aAc	p.S974N	KIF20B_ENST00000416354.1_Missense_Mutation_p.S1004N|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S934N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S974N	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	974					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.S934N(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						GCTACAAGAAGCATTACAAAT	0.313																																					p.S934N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2801A	10						.						61.0	66.0	64.0					10																	91497519		2199	4294	6493	91487499	SO:0001583	missense	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2921G>A	10.37:g.91497519G>A	ENSP00000360793:p.Ser974Asn		91487499	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	0.166	-1.076487	0.01903	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.65732	-0.13;-0.12;-0.17;-0.1	5.69	-1.67	0.08238	.	0.605419	0.15605	N	0.253697	T	0.23370	0.0565	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29488	-1.0010	10	0.14252	T	0.57	-0.2533	6.0368	0.19712	0.364:0.3675:0.2685:0.0	.	974;934	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	N	934;1004;974;974	ENSP00000260753:S934N;ENSP00000411545:S1004N;ENSP00000377830:S974N;ENSP00000360793:S974N	ENSP00000260753:S934N	S	+	2	0	KIF20B	91487499	0.066000	0.20996	0.003000	0.11579	0.971000	0.66376	0.263000	0.18478	-0.281000	0.09141	0.591000	0.81541	AGC		0.313	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
ANKRD1	27063	broad.mit.edu	37	10	92677503	92677503	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:92677503C>T	ENST00000371697.3	-	5	786	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	180					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)	p.E180K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCACGGAATTCGATCTGGGCT	0.418																																					p.E180K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	10						.						88.0	81.0	83.0					10																	92677503		2203	4300	6503	92667483	SO:0001583	missense	27063	exon5			X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.538G>A	10.37:g.92677503C>T	ENSP00000360762:p.Glu180Lys		92667483	NM_014391	Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144267	0.94603	.	.	ENSG00000148677	ENST00000371697	T	0.64438	-0.1	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	L	0.53671	1.685	0.58432	D	0.999999	D	0.67145	0.996	D	0.63283	0.913	T	0.75536	-0.3283	10	0.59425	D	0.04	.	19.766	0.96342	0.0:1.0:0.0:0.0	.	180	Q15327	ANKR1_HUMAN	K	180	ENSP00000360762:E180K	ENSP00000360762:E180K	E	-	1	0	ANKRD1	92667483	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	6.758000	0.74929	2.743000	0.94032	0.585000	0.79938	GAA		0.418	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
HECTD2	143279	broad.mit.edu	37	10	93257924	93257924	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:93257924C>A	ENST00000298068.5	+	16	1834	c.1740C>A	c.(1738-1740)ttC>ttA	p.F580L	HECTD2_ENST00000371667.1_Missense_Mutation_p.F230L|HECTD2_ENST00000446394.1_Missense_Mutation_p.F584L|HECTD2_ENST00000536715.1_Missense_Mutation_p.F169L	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	580	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F580L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGAAGATTTCTATTCAACAT	0.299																																					p.F580L	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1740A	10						.						78.0	80.0	79.0					10																	93257924		2203	4295	6498	93247904	SO:0001583	missense	143279	exon16			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.1740C>A	10.37:g.93257924C>A	ENSP00000298068:p.Phe580Leu		93247904	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969676	0.53614	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.47	4.37	0.52481	HECT (4);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	N	0.11341	0.13	0.48762	D	0.999702	B;B	0.27971	0.196;0.03	B;B	0.38194	0.267;0.05	T	0.10941	-1.0608	10	0.41790	T	0.15	.	6.6339	0.22872	0.0:0.7419:0.0:0.2581	.	584;580	E7ERR3;Q5U5R9	.;HECD2_HUMAN	L	584;580;169;230	ENSP00000401023:F584L;ENSP00000298068:F580L;ENSP00000439687:F169L;ENSP00000360731:F230L	ENSP00000298068:F580L	F	+	3	2	HECTD2	93247904	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.244000	0.32778	2.572000	0.86782	0.555000	0.69702	TTC		0.299	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
BTAF1	9044	broad.mit.edu	37	10	93754333	93754333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:93754333G>T	ENST00000265990.6	+	23	3549	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*	BTAF1_ENST00000544642.1_5'Flank	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1081					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.E1081*(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)				CCCTGCTCAAGAATTGGTGAA	0.373																																					p.E1081X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3241T	10						.						66.0	69.0	68.0					10																	93754333		2203	4300	6503	93744313	SO:0001587	stop_gained	9044	exon23			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.3241G>T	10.37:g.93754333G>T	ENSP00000265990:p.Glu1081*		93744313	NM_003972	B4E0W6|O43578	Nonsense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	43	9.886801	0.99288	.	.	ENSG00000095564	ENST00000265990	.	.	.	5.87	5.87	0.94306	.	0.051193	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-22.7345	20.1991	0.98252	0.0:0.0:1.0:0.0	.	.	.	.	X	1081	.	ENSP00000265990:E1081X	E	+	1	0	BTAF1	93744313	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	9.038000	0.93771	2.775000	0.95449	0.650000	0.86243	GAA		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
IDE	3416	broad.mit.edu	37	10	94214254	94214254	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:94214254G>T	ENST00000265986.6	-	25	3063	c.3007C>A	c.(3007-3009)Cca>Aca	p.P1003T	IDE_ENST00000371581.5_Missense_Mutation_p.P448T|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1003					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.P1003T(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)"""	GGAAACAGTGGCAGACCACGC	0.413																																					p.P1003T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3007A	10						.						165.0	162.0	163.0					10																	94214254		2203	4300	6503	94204234	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.3007C>A	10.37:g.94214254G>T	ENSP00000265986:p.Pro1003Thr		94204234	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742142	0.69418	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.31510	1.52;1.49	5.9	5.9	0.94986	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.53729	1.69	0.80722	D	1	D;D	0.60160	0.987;0.977	B;P	0.46253	0.426;0.509	T	0.03957	-1.0989	10	0.31617	T	0.26	-10.0283	20.2789	0.98501	0.0:0.0:1.0:0.0	.	1003;448	P14735;B3KSB8	IDE_HUMAN;.	T	1003;448	ENSP00000265986:P1003T;ENSP00000360637:P448T	ENSP00000265986:P1003T	P	-	1	0	IDE	94204234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.009000	0.93606	2.788000	0.95919	0.650000	0.86243	CCA		0.413	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
KIF11	3832	broad.mit.edu	37	10	94407996	94407996	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:94407996A>C	ENST00000260731.3	+	19	2665	c.2575A>C	c.(2575-2577)Agt>Cgt	p.S859R		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	859					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.S859R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAGGCTTCAAGTTCAGACAT	0.323																																					p.S859R	Colon(47;212 1003 2764 4062 8431)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2575C	10						.						67.0	62.0	63.0					10																	94407996		2203	4300	6503	94397976	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.2575A>C	10.37:g.94407996A>C	ENSP00000260731:p.Ser859Arg		94397976	NM_004523	A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	1.772	-0.484138	0.04383	.	.	ENSG00000138160	ENST00000260731	T	0.72835	-0.69	5.67	-3.07	0.05363	.	0.639379	0.15882	N	0.239996	T	0.43166	0.1235	L	0.27053	0.805	0.09310	N	1	B	0.21688	0.059	B	0.18263	0.021	T	0.22173	-1.0224	10	0.15066	T	0.55	.	0.2718	0.00232	0.2883:0.2765:0.1669:0.2683	.	859	P52732	KIF11_HUMAN	R	859	ENSP00000260731:S859R	ENSP00000260731:S859R	S	+	1	0	KIF11	94397976	0.011000	0.17503	0.447000	0.26932	0.103000	0.19146	-1.001000	0.03690	-0.533000	0.06323	-0.331000	0.08364	AGT		0.323	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	
HHEX	3087	broad.mit.edu	37	10	94454506	94454506	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:94454506G>T	ENST00000282728.5	+	4	2593	c.794G>T	c.(793-795)aGc>aTc	p.S265I	HHEX_ENST00000492654.2_Missense_Mutation_p.S93I|HHEX_ENST00000472590.2_Missense_Mutation_p.S93I	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	265					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S265I(1)		kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						GGCGATAAAAGCTATTTTAAT	0.428																																					p.S265I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794T	10						.						67.0	67.0	67.0					10																	94454506		2203	4300	6503	94444486	SO:0001583	missense	3087	exon4			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.794G>T	10.37:g.94454506G>T	ENSP00000282728:p.Ser265Ile		94444486	NM_002729	B1AQ17|Q96CE9	Missense_Mutation	SNP	ENST00000282728.5	37	CCDS7423.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468961	0.63625	.	.	ENSG00000152804	ENST00000282728;ENST00000472590;ENST00000492654	D;D;D	0.90844	-2.74;-1.7;-1.7	5.44	5.44	0.79542	.	0.200515	0.42548	D	0.000691	D	0.85097	0.5619	N	0.14661	0.345	0.26227	N	0.979074	B	0.22480	0.07	B	0.25140	0.058	T	0.77046	-0.2733	10	0.72032	D	0.01	-4.0999	19.4568	0.94895	0.0:0.0:1.0:0.0	.	265	Q03014	HHEX_HUMAN	I	265;93;93	ENSP00000282728:S265I;ENSP00000450017:S93I;ENSP00000447953:S93I	ENSP00000282728:S265I	S	+	2	0	HHEX	94444486	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.448000	0.66612	2.832000	0.97577	0.655000	0.94253	AGC		0.428	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2		
NOC3L	64318	broad.mit.edu	37	10	96099655	96099655	+	Missense_Mutation	SNP	C	C	A	rs147634769		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:96099655C>A	ENST00000371361.3	-	17	1903	c.1803G>T	c.(1801-1803)gaG>gaT	p.E601D	NOC3L_ENST00000543788.1_Missense_Mutation_p.E339D|NOC3L_ENST00000371350.1_Missense_Mutation_p.E601D	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	601					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GGAGTACAATCTCAACACCTT	0.438																																					p.E601D												.	.	0			c.G1803T	10						.						87.0	81.0	83.0					10																	96099655		2203	4300	6503	96089645	SO:0001583	missense	64318	exon17			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1803G>T	10.37:g.96099655C>A	ENSP00000360412:p.Glu601Asp		96089645	NM_022451	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304129	0.23736	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.22539	1.95;1.95;1.95	5.5	3.26	0.37387	CCAAT-binding factor (1);	0.364448	0.31909	N	0.006876	T	0.10252	0.0251	N	0.12611	0.24	0.28675	N	0.905449	B	0.21821	0.061	B	0.26094	0.066	T	0.26643	-1.0097	10	0.14656	T	0.56	-13.0125	7.8136	0.29245	0.0:0.6722:0.0:0.3278	.	601	Q8WTT2	NOC3L_HUMAN	D	339;601;601	ENSP00000437838:E339D;ENSP00000360412:E601D;ENSP00000360401:E601D	ENSP00000360401:E601D	E	-	3	2	NOC3L	96089645	0.873000	0.30073	0.754000	0.31244	0.984000	0.73092	1.114000	0.31196	1.469000	0.48083	0.561000	0.74099	GAG		0.438	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
CYP2C18	1562	broad.mit.edu	37	10	96466604	96466604	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:96466604A>C	ENST00000285979.6	+	5	905	c.706A>C	c.(706-708)Aat>Cat	p.N236H	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	236					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)	p.N236H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	AATAGCTGAAAATTTTGCTTA	0.308																																					p.N236H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A706C	10						.						50.0	54.0	52.0					10																	96466604		2203	4300	6503	96456594	SO:0001583	missense	1562	exon5			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.706A>C	10.37:g.96466604A>C	ENSP00000285979:p.Asn236His		96456594	NM_000772	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	a	9.766	1.171343	0.21621	.	.	ENSG00000108242	ENST00000285979	T	0.69306	-0.39	3.65	3.65	0.41850	.	0.583461	0.16864	U	0.196382	T	0.60856	0.2301	M	0.77486	2.375	0.09310	N	0.99999	P	0.41624	0.757	B	0.35770	0.21	T	0.61327	-0.7085	10	0.56958	D	0.05	.	5.7004	0.17879	0.8774:0.0:0.1226:0.0	.	236	P33260	CP2CI_HUMAN	H	236	ENSP00000285979:N236H	ENSP00000285979:N236H	N	+	1	0	CYP2C18	96456594	0.293000	0.24371	0.018000	0.16275	0.043000	0.13939	3.070000	0.50033	1.652000	0.50683	0.255000	0.18592	AAT		0.308	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
BLNK	29760	broad.mit.edu	37	10	97951767	97951767	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:97951767C>A	ENST00000224337.5	-	17	1474	c.1333G>T	c.(1333-1335)Gat>Tat	p.D445Y	BLNK_ENST00000427367.2_Missense_Mutation_p.D410Y|BLNK_ENST00000371176.2_Missense_Mutation_p.D422Y|BLNK_ENST00000413476.2_Missense_Mutation_p.D393Y	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	445	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D445Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTGGTGGAATCTTTTGTGTTA	0.363																																					p.D445Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1333T	10						.						246.0	239.0	241.0					10																	97951767		2203	4300	6503	97941757	SO:0001583	missense	29760	exon17			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1333G>T	10.37:g.97951767C>A	ENSP00000224337:p.Asp445Tyr		97941757	NM_013314	O75498|O75499|Q2MD49	Missense_Mutation	SNP	ENST00000224337.5	37	CCDS7446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.249075|4.249075	0.80024|0.80024	.|.	.|.	ENSG00000095585|ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049;ENST00000393894|ENST00000393889	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	SH2 motif (2);|.	0.050121|.	0.85682|.	D|.	0.000000|.	T|T	0.73171|0.73171	0.3553|0.3553	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;0.998|.	D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.999;0.999;0.979|.	T|T	0.75921|0.75921	-0.3147|-0.3147	9|6	0.56958|0.87932	D|D	0.05|0	-26.8354|-26.8354	17.7201|17.7201	0.88349|0.88349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	370;393;422;288;422;445|.	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28|.	.;.;.;.;.;BLNK_HUMAN|.	Y|N	445;422;410;393;288;174|170	.|.	ENSP00000224337:D445Y|ENSP00000377467:K170N	D|K	-|-	1|3	0|2	BLNK|BLNK	97941757|97941757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.676000|4.676000	0.61627|0.61627	2.567000|2.567000	0.86603|0.86603	0.557000|0.557000	0.71058|0.71058	GAT|AAG		0.363	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314	
DNTT	1791	broad.mit.edu	37	10	98084064	98084064	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:98084064G>T	ENST00000371174.2	+	6	894	c.792G>T	c.(790-792)gaG>gaT	p.E264D	DNTT_ENST00000419175.1_Missense_Mutation_p.E264D			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	264	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.E264D(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)		AGACTTCTGAGAAGTGGTTCA	0.413																																					p.E264D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G792T	10						.						134.0	131.0	132.0					10																	98084064		2203	4300	6503	98074054	SO:0001583	missense	1791	exon6			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.792G>T	10.37:g.98084064G>T	ENSP00000360216:p.Glu264Asp		98074054	NM_004088	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	2.728	-0.264990	0.05754	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.43688	0.94;0.94	4.69	3.72	0.42706	DNA-directed DNA polymerase X (1);DNA polymerase lambda, fingers domain (2);	0.152645	0.64402	D	0.000019	T	0.16981	0.0408	N	0.05124	-0.11	0.42086	D	0.99127	B;B	0.15141	0.01;0.012	B;B	0.15484	0.008;0.013	T	0.13980	-1.0489	10	0.07482	T	0.82	-5.6016	7.5447	0.27759	0.0:0.178:0.6377:0.1843	.	264;264	P04053-2;P04053	.;TDT_HUMAN	D	264	ENSP00000401169:E264D;ENSP00000360216:E264D	ENSP00000360216:E264D	E	+	3	2	DNTT	98074054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.429000	0.34903	2.597000	0.87782	0.655000	0.94253	GAG		0.413	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088	
C10orf12	26148	broad.mit.edu	37	10	98744001	98744001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:98744001C>T	ENST00000286067.2	+	1	2961	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	952								p.R952*(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGCCAAATTTCGAGAGAATCC	0.463																																					p.R952X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2854T	10						.						87.0	98.0	95.0					10																	98744001		2203	4300	6503	98733991	SO:0001587	stop_gained	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2854C>T	10.37:g.98744001C>T	ENSP00000286067:p.Arg952*		98733991	NM_015652	Q9H945|Q9Y457	Nonsense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	35	5.561915	0.96527	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	.	.	.	5.71	4.79	0.61399	.	0.340768	0.20894	N	0.083762	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2512	9.3624	0.38203	0.1451:0.7835:0.0:0.0714	.	.	.	.	X	952;786	.	ENSP00000286067:R952X	R	+	1	2	C10orf12	98733991	0.611000	0.26992	0.999000	0.59377	0.224000	0.24922	1.326000	0.33735	1.393000	0.46605	0.655000	0.94253	CGA		0.463	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
ARHGAP19	84986	broad.mit.edu	37	10	99025838	99025838	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:99025838C>A	ENST00000358531.4	-	2	129	c.101G>T	c.(100-102)cGa>cTa	p.R34L	ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.R34L|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.R25L|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.R25L|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.R34L|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.R34L	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	34					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.R34L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GGGCTGACCTCGAAGGGAAGA	0.398																																					p.R34L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101T	10						.						82.0	81.0	81.0					10																	99025838		2203	4300	6503	99015828	SO:0001583	missense	84986	exon2			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.101G>T	10.37:g.99025838C>A	ENSP00000351333:p.Arg34Leu		99015828	NM_032900	A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791549	0.50102	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.10099	2.99;3.02;3.02;3.03;3.02;2.91	5.54	4.64	0.57946	.	0.311451	0.25416	U	0.030827	T	0.08358	0.0208	N	0.19112	0.55	0.32945	D	0.518952	B;B;B	0.24368	0.082;0.049;0.102	B;B;B	0.24541	0.039;0.018;0.054	T	0.06006	-1.0851	10	0.66056	D	0.02	-2.2584	11.489	0.50371	0.0:0.8554:0.0:0.1446	.	34;34;25	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	L	34;34;25;34;25;34	ENSP00000414774:R34L;ENSP00000324468:R34L;ENSP00000347526:R25L;ENSP00000351333:R34L;ENSP00000360066:R25L;ENSP00000351058:R34L	ENSP00000324468:R34L	R	-	2	0	ARHGAP19	99015828	0.946000	0.32159	1.000000	0.80357	0.994000	0.84299	0.505000	0.22642	1.326000	0.45319	0.557000	0.71058	CGA		0.398	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900	
DOCK1	1793	broad.mit.edu	37	10	129046280	129046280	+	Silent	SNP	C	C	T	rs548775401		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr10:129046280C>T	ENST00000280333.6	+	28	2902	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	931					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.F931F(1)		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)		AGGGAAACTTCGTGGCTTGCA	0.403																																					p.F931F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2793T	10						.						80.0	76.0	77.0					10																	129046280		1899	4121	6020	128936270	SO:0001819	synonymous_variant	1793	exon28			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.2793C>T	10.37:g.129046280C>T			128936270	NM_001380	A9Z1Z5	Silent	SNP	ENST00000280333.6	37																																																																																					0.403	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
ST8SIA4	7903	broad.mit.edu	37	5	100231434	100231434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:100231434G>A	ENST00000231461.5	-	2	479	c.169C>T	c.(169-171)Cga>Tga	p.R57*	ST8SIA4_ENST00000451528.2_Nonsense_Mutation_p.R57*	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	57					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R57*(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)		CCAGCCTTTCGAATGATTTTA	0.373																																					p.R57X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C169T	5						.						112.0	109.0	110.0					5																	100231434		2203	4299	6502	100259333	SO:0001587	stop_gained	7903	exon2			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.169C>T	5.37:g.100231434G>A	ENSP00000231461:p.Arg57*		100259333	NM_175052	A8KA07|G3V104|Q8N1F4|Q92693	Nonsense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	G	37	6.260157	0.97421	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	.	.	.	5.96	5.96	0.96718	.	0.083749	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	19.3963	0.94608	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000231461:R57X	R	-	1	2	ST8SIA4	100259333	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.235000	0.51328	2.814000	0.96858	0.655000	0.94253	CGA		0.373	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
SLCO6A1	133482	broad.mit.edu	37	5	101834231	101834231	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:101834231G>A	ENST00000506729.1	-	1	489	c.318C>T	c.(316-318)cgC>cgT	p.R106R	SLCO6A1_ENST00000513675.1_Silent_p.R106R|SLCO6A1_ENST00000514551.1_5'UTR|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379807.3_Silent_p.R106R|SLCO6A1_ENST00000379810.1_Silent_p.R106R|SLCO6A1_ENST00000389019.3_Silent_p.R106R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	106	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R106R(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)		TCATGAAGCAGCGAATGTTAT	0.552																																					p.R106R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	5						.						84.0	83.0	84.0					5																	101834231		2203	4300	6503	101862130	SO:0001819	synonymous_variant	133482	exon1			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.318C>T	5.37:g.101834231G>A			101862130	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	CCDS34206.1																																																																																				0.552	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
MAN2A1	4124	broad.mit.edu	37	5	109200797	109200797	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:109200797C>T	ENST00000261483.4	+	21	4284	c.3232C>T	c.(3232-3234)Cgg>Tgg	p.R1078W	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1078					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.R1078W(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GTTTGATTGTCGGTTCTCTAG	0.458																																					p.R1078W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3232T	5						.						161.0	142.0	149.0					5																	109200797		2202	4300	6502	109228696	SO:0001583	missense	4124	exon21				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3232C>T	5.37:g.109200797C>T	ENSP00000261483:p.Arg1078Trp		109228696	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438601	0.25900	.	.	ENSG00000112893	ENST00000261483	D	0.83755	-1.76	5.53	3.43	0.39272	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.343569	0.31685	N	0.007235	D	0.87857	0.6283	M	0.76328	2.33	0.33610	D	0.603421	D	0.69078	0.997	P	0.58970	0.849	D	0.91232	0.5015	9	.	.	.	-1.7191	12.4132	0.55480	0.6043:0.3957:0.0:0.0	.	1078	Q16706	MA2A1_HUMAN	W	1078	ENSP00000261483:R1078W	.	R	+	1	2	MAN2A1	109228696	1.000000	0.71417	0.777000	0.31699	0.037000	0.13140	2.031000	0.41117	1.417000	0.47077	-0.284000	0.09977	CGG		0.458	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
EPB41L4A	64097	broad.mit.edu	37	5	111504758	111504758	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:111504758C>T	ENST00000261486.5	-	21	2060	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	595				RS -> KL (in Ref. 3; BAB17229). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.R595Q(1)|p.R222Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GCGGTAACTTCGTGGCGAATG	0.498																																					p.R595Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1784A	5						.						133.0	139.0	137.0					5																	111504758		2098	4221	6319	111532657	SO:0001583	missense	64097	exon21			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1784G>A	5.37:g.111504758C>T	ENSP00000261486:p.Arg595Gln		111532657	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748368	0.89663	.	.	ENSG00000129595	ENST00000261486	D	0.84146	-1.81	5.86	5.86	0.93980	.	0.073620	0.52532	D	0.000076	D	0.88485	0.6449	L	0.29908	0.895	0.39264	D	0.96426	D;D	0.89917	0.995;1.0	P;D	0.83275	0.559;0.996	D	0.87468	0.2412	10	0.34782	T	0.22	.	18.9573	0.92664	0.0:1.0:0.0:0.0	.	595;222	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	Q	595	ENSP00000261486:R595Q	ENSP00000261486:R595Q	R	-	2	0	EPB41L4A	111532657	0.999000	0.42202	0.130000	0.21974	0.773000	0.43773	5.813000	0.69201	2.777000	0.95525	0.591000	0.81541	CGA		0.498	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
EPB41L4A	64097	broad.mit.edu	37	5	111576502	111576502	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:111576502G>A	ENST00000261486.5	-	10	1077	c.801C>T	c.(799-801)aaC>aaT	p.N267N	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.N267N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		ATGAGGTTTCGTTACACTAAG	0.368																																					p.N267N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C801T	5						.						57.0	54.0	55.0					5																	111576502		1812	4088	5900	111604401	SO:0001819	synonymous_variant	64097	exon10			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.801C>T	5.37:g.111576502G>A			111604401	NM_022140	A4FUI6	Silent	SNP	ENST00000261486.5	37	CCDS43350.1																																																																																				0.368	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
EPB41L4A	64097	broad.mit.edu	37	5	111754704	111754704	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:111754704A>C	ENST00000261486.5	-	1	309	c.33T>G	c.(31-33)ttT>ttG	p.F11L	EPB41L4A-AS2_ENST00000600409.1_5'Flank	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	11	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.F11L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTCGCAGTAAAATTCTTCCG	0.607																																					p.F11L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T33G	5						.						72.0	84.0	80.0					5																	111754704		1980	4181	6161	111782603	SO:0001583	missense	64097	exon1			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.33T>G	5.37:g.111754704A>C	ENSP00000261486:p.Phe11Leu		111782603	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313769	0.40996	.	.	ENSG00000129595	ENST00000261486	T	0.75260	-0.92	5.1	1.38	0.22167	Band 4.1 domain (1);FERM domain (1);	0.062767	0.64402	D	0.000006	T	0.69851	0.3157	L	0.31926	0.97	0.36997	D	0.895082	P	0.52842	0.956	P	0.62184	0.899	T	0.68142	-0.5487	10	0.02654	T	1	.	9.3474	0.38118	0.6287:0.0:0.3713:0.0	.	11	Q9HCS5	E41LA_HUMAN	L	11	ENSP00000261486:F11L	ENSP00000261486:F11L	F	-	3	2	EPB41L4A	111782603	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.309000	0.33539	0.010000	0.14839	-0.385000	0.06624	TTT		0.607	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
APC	324	broad.mit.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	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*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*			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	112174774	112174774	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:112174774T>G	ENST00000457016.1	+	16	3863	c.3483T>G	c.(3481-3483)aaT>aaG	p.N1161K	APC_ENST00000508376.2_Missense_Mutation_p.N1161K|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.N1161K			P25054	APC_HUMAN	adenomatous polyposis coli	1161	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.N1161K(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)		GACCAACAAATTATAGCATAA	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.N1143K	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.T3429G	5						.						58.0	61.0	60.0					5																	112174774		2202	4300	6502	112202673	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.3483T>G	5.37:g.112174774T>G	ENSP00000413133:p.Asn1161Lys		112202673	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089477	0.20390	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.76	3.38	0.38709	.	0.136255	0.50627	D	0.000117	T	0.77955	0.4208	N	0.12182	0.205	0.34142	D	0.666501	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.007	T	0.68872	-0.5294	9	.	.	.	-21.7039	5.8988	0.18955	0.0:0.1439:0.1394:0.7167	.	1163;1161	Q4LE70;P25054	.;APC_HUMAN	K	1161	ENSP00000413133:N1161K;ENSP00000257430:N1161K;ENSP00000427089:N1161K;ENSP00000423828:N1161K	.	N	+	3	2	APC	112202673	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.094000	0.30951	0.463000	0.27118	0.533000	0.62120	AAT		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
DCP2	167227	broad.mit.edu	37	5	112336790	112336790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:112336790G>T	ENST00000389063.2	+	5	640	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Nonsense_Mutation_p.E148*	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	148	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|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)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)	p.E148*(1)		endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GGTCTTTGAAGAAACTGGTTT	0.323																																					p.E148X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G442T	5						.						44.0	47.0	46.0					5																	112336790		2200	4297	6497	112364689	SO:0001587	stop_gained	167227	exon5			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.442G>T	5.37:g.112336790G>T	ENSP00000373715:p.Glu148*		112364689	NM_152624	C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Nonsense_Mutation	SNP	ENST00000389063.2	37	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.230232|5.230232	0.95207|0.95207	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063|ENST00000513585	.|.	.|.	.|.	5.63|5.63	4.77|4.77	0.60923|0.60923	.|.	0.043096|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70570	.|0.3239	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70252	.|-0.4923	.|4	0.87932|.	D|.	0|.	-20.4308|-20.4308	14.8369|14.8369	0.70190|0.70190	0.0691:0.0:0.9309:0.0|0.0691:0.0:0.9309:0.0	.|.	.|.	.|.	.|.	X|I	148|129	.|.	ENSP00000373715:E148X|.	E|R	+|+	1|2	0|0	DCP2|DCP2	112364689|112364689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.352000|9.352000	0.97076|0.97076	1.526000|1.526000	0.49068|0.49068	0.643000|0.643000	0.83706|0.83706	GAA|AGA		0.323	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624	
MCC	4163	broad.mit.edu	37	5	112399855	112399855	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:112399855G>A	ENST00000302475.4	-	12	2032	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	MCC_ENST00000408903.3_Missense_Mutation_p.S680L|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.S427L	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	490			S -> L (in a colorectal cancer sample). {ECO:0000269|PubMed:1651563}.		negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S680L(1)|p.S490L(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCATCCCCCGACTGGTCTCC	0.532																																					p.S680L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2039T	5						.						77.0	73.0	74.0					5																	112399855		2202	4300	6502	112427754	SO:0001583	missense	4163	exon14				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1469C>T	5.37:g.112399855G>A	ENSP00000305617:p.Ser490Leu		112427754	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137082	0.77775	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.36520	2.41;2.42;1.25	5.64	5.64	0.86602	.	0.427064	0.23779	N	0.044645	T	0.24275	0.0588	N	0.08118	0	0.47308	D	0.999384	B;B;B	0.22604	0.012;0.072;0.043	B;B;B	0.22386	0.007;0.039;0.012	T	0.06215	-1.0839	10	0.28530	T	0.3	-5.272	19.6921	0.96007	0.0:0.0:1.0:0.0	.	490;680;490	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	L	490;427;680	ENSP00000305617:S490L;ENSP00000421615:S427L;ENSP00000386227:S680L	ENSP00000305617:S490L	S	-	2	0	MCC	112427754	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.671000	0.61590	2.633000	0.89246	0.563000	0.77884	TCG		0.532	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
CCDC112	153733	broad.mit.edu	37	5	114611749	114611749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:114611749C>A	ENST00000512261.1	-	6	636	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	CCDC112_ENST00000506442.1_Nonsense_Mutation_p.E74*|CCDC112_ENST00000395557.4_Nonsense_Mutation_p.E74*|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000379611.5_Nonsense_Mutation_p.E157*			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	74								p.E157*(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)		TCCATCATTTCTCTGAGCTTC	0.284																																					p.E157X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G469T	5						.						72.0	77.0	75.0					5																	114611749		2199	4292	6491	114639648	SO:0001587	stop_gained	153733	exon5			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.220G>T	5.37:g.114611749C>A	ENSP00000423712:p.Glu74*		114639648	NM_001040440	Q6A334	Nonsense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	40	8.094487	0.98651	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	5.58	4.71	0.59529	.	0.203196	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-23.1116	13.8721	0.63626	0.0:0.9267:0.0:0.0733	.	.	.	.	X	157;74;74;74	.	ENSP00000368931:E157X	E	-	1	0	CCDC112	114639648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.894000	0.63206	2.618000	0.88619	0.460000	0.39030	GAA		0.284	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
CDO1	1036	broad.mit.edu	37	5	115146889	115146889	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:115146889G>T	ENST00000250535.4	-	3	928	c.372C>A	c.(370-372)gtC>gtA	p.V124V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	124					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)	p.V124V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TTTCCCTCAAGACTCTTTCAG	0.408																																					p.V124V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C372A	5						.						257.0	248.0	251.0					5																	115146889		2202	4300	6502	115174788	SO:0001819	synonymous_variant	1036	exon3				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.372C>A	5.37:g.115146889G>T			115174788	NM_001801	B2RAK4|P78513|Q6FHZ8|Q8TB64	Silent	SNP	ENST00000250535.4	37	CCDS4121.1																																																																																				0.408	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801	
DMXL1	1657	broad.mit.edu	37	5	118433743	118433743	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:118433743G>A	ENST00000311085.8	+	2	237	c.157G>A	c.(157-159)Gct>Act	p.A53T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A53T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	53								p.A53T(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)		AATCCCAGGAGCTAAACATGG	0.313																																					p.A53T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	5						.						130.0	133.0	132.0					5																	118433743		2202	4300	6502	118461642	SO:0001583	missense	1657	exon2			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.157G>A	5.37:g.118433743G>A	ENSP00000309690:p.Ala53Thr		118461642	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912226	0.92178	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.11277	2.83;2.79;2.83	5.98	5.11	0.69529	WD40 repeat-like-containing domain (1);	0.053356	0.85682	D	0.000000	T	0.15565	0.0375	M	0.66939	2.045	0.45415	D	0.998392	B;B	0.34200	0.441;0.314	B;B	0.33620	0.167;0.065	T	0.01436	-1.1355	10	0.46703	T	0.11	-12.7096	14.73	0.69374	0.0699:0.0:0.9301:0.0	.	53;53	F5H269;Q9Y485	.;DMXL1_HUMAN	T	53	ENSP00000427692:A53T;ENSP00000309690:A53T;ENSP00000439479:A53T	ENSP00000309690:A53T	A	+	1	0	DMXL1	118461642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.612000	0.74187	1.542000	0.49330	0.585000	0.79938	GCT		0.313	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
DMXL1	1657	broad.mit.edu	37	5	118506692	118506692	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:118506692C>T	ENST00000311085.8	+	24	6286	c.6206C>T	c.(6205-6207)gCt>gTt	p.A2069V	DMXL1_ENST00000539542.1_Missense_Mutation_p.A2069V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2069								p.A2069V(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)		GAGGTGATAGCTCTTCAGAGG	0.388																																					p.A2069V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6206T	5						.						90.0	89.0	89.0					5																	118506692		2202	4300	6502	118534591	SO:0001583	missense	1657	exon24			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.6206C>T	5.37:g.118506692C>T	ENSP00000309690:p.Ala2069Val		118534591	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	37	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466477	0.84425	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78481	-1.18;-1.18	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.86184	0.5872	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.977	D	0.85861	0.1410	10	0.51188	T	0.08	-16.3169	19.3932	0.94594	0.0:1.0:0.0:0.0	.	2069;2069	F5H269;Q9Y485	.;DMXL1_HUMAN	V	2069	ENSP00000309690:A2069V;ENSP00000439479:A2069V	ENSP00000309690:A2069V	A	+	2	0	DMXL1	118534591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.413000	0.80104	2.577000	0.86979	0.557000	0.71058	GCT		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
SRFBP1	153443	broad.mit.edu	37	5	121356324	121356324	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:121356324T>G	ENST00000339397.4	+	6	966	c.894T>G	c.(892-894)agT>agG	p.S298R	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1									p.S298R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGAAGGAAAGTAGTTGTCATT	0.383																																					p.S298R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T894G	5						.						97.0	86.0	89.0					5																	121356324		1867	4102	5969	121384223	SO:0001583	missense	153443	exon6			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.894T>G	5.37:g.121356324T>G	ENSP00000341324:p.Ser298Arg		121384223	NM_152546		Missense_Mutation	SNP	ENST00000339397.4	37	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903080	0.33628	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.57	2.01	0.26516	.	0.735512	0.14391	N	0.322506	T	0.31670	0.0804	M	0.61703	1.905	0.09310	N	0.999998	P	0.49961	0.93	B	0.39068	0.289	T	0.15407	-1.0438	9	0.40728	T	0.16	-4.1337	9.4774	0.38880	0.0:0.1976:0.0:0.8024	.	298	Q8NEF9	SRFB1_HUMAN	R	298	.	ENSP00000341324:S298R	S	+	3	2	SRFBP1	121384223	0.000000	0.05858	0.652000	0.29579	0.763000	0.43281	0.008000	0.13197	0.946000	0.37632	0.460000	0.39030	AGT		0.383	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546	
MEGF10	84466	broad.mit.edu	37	5	126676306	126676306	+	Silent	SNP	C	C	T	rs77203884	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:126676306C>T	ENST00000274473.6	+	5	570	c.303C>T	c.(301-303)agC>agT	p.S101S	MEGF10_ENST00000508365.1_Silent_p.S101S|MEGF10_ENST00000503335.2_Silent_p.S101S|MEGF10_ENST00000418761.2_Silent_p.S101S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	101	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|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.S101S(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)		TTTATGAAAGCGGGGAAATGT	0.458													c|||	14	0.00279553	0.0098	0.0014	5008	,	,		18687	0.0		0.0	False		,,,				2504	0.0				p.S101S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C303T	5						.	T		40,4366	42.3+/-75.8	0,40,2163	189.0	175.0	180.0		303	0.9	0.9	5	dbSNP_133	180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEGF10	NM_032446.2		0,41,6462	TT,TC,CC		0.0116,0.9079,0.3152		101/1141	126676306	41,12965	2203	4300	6503	126704205	SO:0001819	synonymous_variant	84466	exon5			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.303C>T	5.37:g.126676306C>T			126704205	NM_032446	Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	CCDS4142.1																																																																																				0.458	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
CTXN3	613212	broad.mit.edu	37	5	126993442	126993442	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:126993442G>A	ENST00000379445.3	+	3	780	c.229G>A	c.(229-231)Gac>Aac	p.D77N	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.D77N	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	77						integral component of membrane (GO:0016021)		p.D77N(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		AGGGCAGTTCGACCATGCCCT	0.502																																					p.D77N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	5						.						71.0	66.0	68.0					5																	126993442		2203	4300	6503	127021341	SO:0001583	missense	613212	exon3			AB219764	CCDS34221.1	5q23.2	2006-09-21				ENSG00000205279			31110	protein-coding gene	gene with protein product							Standard	NM_001048252		Approved		uc003kum.4	Q4LDR2		ENST00000379445.3:c.229G>A	5.37:g.126993442G>A	ENSP00000368758:p.Asp77Asn		127021341	NM_001048252	B2RV32|D3DQ82	Missense_Mutation	SNP	ENST00000379445.3	37	CCDS34221.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981674	0.93044	.	.	ENSG00000205279	ENST00000379445;ENST00000395322	T;T	0.37752	1.18;1.18	4.52	4.52	0.55395	.	0.154868	0.64402	D	0.000020	T	0.61324	0.2338	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.66476	-0.5914	9	0.87932	D	0	-34.2799	18.1587	0.89702	0.0:0.0:1.0:0.0	.	77	Q4LDR2	CTXN3_HUMAN	N	77	ENSP00000368758:D77N;ENSP00000378732:D77N	ENSP00000368758:D77N	D	+	1	0	CTXN3	127021341	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.042000	0.93793	2.793000	0.96121	0.655000	0.94253	GAC		0.502	CTXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372467.1	XM_932841	
SLC27A6	28965	broad.mit.edu	37	5	128326055	128326055	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:128326055G>T	ENST00000262462.4	+	4	1877	c.867G>T	c.(865-867)aaG>aaT	p.K289N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.K289N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.K289N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	289					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.K289N(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)		TGTTAAAGAAGAAATTTTCAG	0.358																																					p.K289N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G867T	5						.						145.0	139.0	141.0					5																	128326055		2203	4300	6503	128353954	SO:0001583	missense	28965	exon4			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.867G>T	5.37:g.128326055G>T	ENSP00000262462:p.Lys289Asn		128353954	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618939	0.46736	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.48201	2.89;0.82;0.82;0.82	4.59	3.72	0.42706	AMP-dependent synthetase/ligase (1);	0.093924	0.64402	D	0.000001	T	0.50905	0.1643	M	0.77486	2.375	0.58432	D	0.999996	B	0.27997	0.197	B	0.33295	0.161	T	0.52480	-0.8570	9	.	.	.	-16.4753	13.4713	0.61283	0.0765:0.0:0.9235:0.0	.	289	Q9Y2P4	S27A6_HUMAN	N	108;289;289;289	ENSP00000421759:K108N;ENSP00000262462:K289N;ENSP00000378684:K289N;ENSP00000421024:K289N	.	K	+	3	2	SLC27A6	128353954	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.406000	0.44557	1.529000	0.49120	0.650000	0.86243	AAG		0.358	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
SLC27A6	28965	broad.mit.edu	37	5	128351581	128351581	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:128351581G>A	ENST00000262462.4	+	5	1983	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	SLC27A6_ENST00000395266.1_Missense_Mutation_p.E325K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E325K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	325					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.E325K(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)		CTAACAGAGAGAAGGAGAAAA	0.308																																					p.E325K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	5						.						92.0	95.0	94.0					5																	128351581		2203	4300	6503	128379480	SO:0001583	missense	28965	exon5			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.973G>A	5.37:g.128351581G>A	ENSP00000262462:p.Glu325Lys		128379480	NM_001017372	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740225	0.49045	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.50001	2.89;0.76;0.76;0.76	3.92	3.92	0.45320	AMP-dependent synthetase/ligase (1);	0.325480	0.35040	N	0.003484	T	0.47173	0.1431	L	0.55834	1.745	0.49798	D	0.999822	B	0.24721	0.11	B	0.32022	0.139	T	0.43196	-0.9406	9	.	.	.	-0.0975	17.3065	0.87196	0.0:0.0:1.0:0.0	.	325	Q9Y2P4	S27A6_HUMAN	K	144;325;325;325	ENSP00000421759:E144K;ENSP00000262462:E325K;ENSP00000378684:E325K;ENSP00000421024:E325K	.	E	+	1	0	SLC27A6	128379480	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.002000	0.76304	2.499000	0.84300	0.461000	0.40582	GAA		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
ADAMTS19	171019	broad.mit.edu	37	5	128957999	128957999	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:128957999G>A	ENST00000274487.4	+	10	1855	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	570	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q570Q(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)		AACAATGCCAGATCCTTTTTG	0.448																																					p.Q570Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1710A	5						.						155.0	131.0	139.0					5																	128957999		2203	4300	6503	128985898	SO:0001819	synonymous_variant	171019	exon10			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.1710G>A	5.37:g.128957999G>A			128985898	NM_133638		Silent	SNP	ENST00000274487.4	37	CCDS4146.1																																																																																				0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
IL5	3567	broad.mit.edu	37	5	131877812	131877812	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:131877812G>A	ENST00000231454.1	-	3	244	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	67					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)	p.I67I(1)		endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TTCCCTGAAAGATTTCTTCAG	0.373																																					p.I67I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C201T	5						.						86.0	83.0	84.0					5																	131877812		2203	4300	6503	131905711	SO:0001819	synonymous_variant	3567	exon3			X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"""Interleukins and interleukin receptors"""	6016	protein-coding gene	gene with protein product	"""interleukin-5"", ""T-cell replacing factor"", ""B cell differentiation factor I"", ""eosinophil differentiation factor"", ""colony-stimulating factor, eosinophil"""	147850	"""interleukin 5 (colony-stimulating factor, eosinophil)"""			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.201C>T	5.37:g.131877812G>A			131905711	NM_000879	Q13840	Silent	SNP	ENST00000231454.1	37	CCDS4156.1																																																																																				0.373	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132339.1	NM_000879	
RAD50	10111	broad.mit.edu	37	5	131911585	131911585	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:131911585A>C	ENST00000265335.6	+	3	717	c.330A>C	c.(328-330)gaA>gaC	p.E110D	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	110					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.E110D(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGACAGAATTTAAAACTC	0.358								Homologous recombination																													p.E110D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A330C	5						.						82.0	80.0	80.0					5																	131911585		2203	4300	6503	131939484	SO:0001583	missense	10111	exon3			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.330A>C	5.37:g.131911585A>C	ENSP00000265335:p.Glu110Asp		131939484	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940456	0.52972	.	.	ENSG00000113522	ENST00000416135;ENST00000265335;ENST00000453394	T;T;T	0.23950	1.88;3.33;3.33	5.76	3.36	0.38483	.	0.152463	0.64402	D	0.000014	T	0.29355	0.0731	L	0.48877	1.53	0.80722	D	1	P	0.45634	0.863	P	0.49953	0.627	T	0.01375	-1.1371	10	0.30078	T	0.28	-23.4732	9.465	0.38806	0.8563:0.0:0.1437:0.0	.	110	Q92878	RAD50_HUMAN	D	11;110;110	ENSP00000389515:E11D;ENSP00000265335:E110D;ENSP00000400049:E110D	ENSP00000265335:E110D	E	+	3	2	RAD50	131939484	0.957000	0.32711	1.000000	0.80357	0.994000	0.84299	0.206000	0.17375	0.445000	0.26639	0.459000	0.35465	GAA		0.358	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
RAD50	10111	broad.mit.edu	37	5	131923370	131923370	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:131923370G>T	ENST00000265335.6	+	6	1260	c.873G>T	c.(871-873)gaG>gaT	p.E291D	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000378823.3_Missense_Mutation_p.E152D			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	291					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.E152D(1)|p.E291D(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AACTGGAAGAGAAAATGGAAA	0.323								Homologous recombination																													p.E291D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G873T	5						.						70.0	74.0	73.0					5																	131923370		2203	4298	6501	131951269	SO:0001583	missense	10111	exon6			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.873G>T	5.37:g.131923370G>T	ENSP00000265335:p.Glu291Asp		131951269	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215413	0.39102	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.07327	3.5;3.2;3.2	5.77	5.77	0.91146	.	0.265562	0.43579	D	0.000549	T	0.08358	0.0208	L	0.32530	0.975	0.41700	D	0.989396	B	0.14805	0.011	B	0.19666	0.026	T	0.28522	-1.0041	10	0.11794	T	0.64	-4.3721	17.1336	0.86733	0.0:0.0:1.0:0.0	.	291	Q92878	RAD50_HUMAN	D	152;291;291	ENSP00000368100:E152D;ENSP00000265335:E291D;ENSP00000400049:E291D	ENSP00000265335:E291D	E	+	3	2	RAD50	131951269	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.487000	0.60293	2.709000	0.92574	0.655000	0.94253	GAG		0.323	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
GDF9	2661	broad.mit.edu	37	5	132197607	132197607	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:132197607G>T	ENST00000378673.2	-	3	1905	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	GDF9_ENST00000296875.2_Missense_Mutation_p.L347I|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	347					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.L347I(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGGGAAGAAGAAATTGTCTG	0.488																																					p.L347I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1039A	5						.						69.0	70.0	70.0					5																	132197607		2203	4300	6503	132225506	SO:0001583	missense	2661	exon2				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.1039C>A	5.37:g.132197607G>T	ENSP00000367942:p.Leu347Ile		132225506	NM_005260	Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096164	0.20552	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.81163	-1.46;-1.46	6.13	2.4	0.29515	Transforming growth factor-beta, C-terminal (1);	0.504141	0.21565	N	0.072516	T	0.78464	0.4287	M	0.85373	2.75	0.26428	N	0.975985	D	0.54207	0.965	B	0.43658	0.426	T	0.68168	-0.5480	10	0.26408	T	0.33	.	4.3303	0.11060	0.1184:0.2467:0.5201:0.1148	.	347	O60383	GDF9_HUMAN	I	347	ENSP00000367942:L347I;ENSP00000296875:L347I	ENSP00000296875:L347I	L	-	1	0	GDF9	132225506	0.053000	0.20554	0.371000	0.25978	0.207000	0.24258	0.543000	0.23237	0.170000	0.19704	-0.139000	0.14373	CTT		0.488	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260	
HSPA4	3308	broad.mit.edu	37	5	132424110	132424110	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:132424110G>A	ENST00000304858.2	+	9	1289	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	334					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.D334N(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)			AAAGAAAGAAGATATTTATGC	0.308																																					p.D334N	Colon(114;1299 1588 6063 12302 48757)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1000A	5						.						50.0	47.0	48.0					5																	132424110		2203	4300	6503	132452009	SO:0001583	missense	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.1000G>A	5.37:g.132424110G>A	ENSP00000302961:p.Asp334Asn		132452009	NM_002154	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759406	0.89932	.	.	ENSG00000170606	ENST00000304858;ENST00000537974	T	0.01145	5.27	6.02	4.23	0.50019	.	0.042199	0.85682	D	0.000000	T	0.03263	0.0095	M	0.82716	2.605	0.80722	D	1	B	0.23442	0.085	B	0.34093	0.175	T	0.19844	-1.0293	10	0.49607	T	0.09	-20.1391	11.9268	0.52825	0.0653:0.1228:0.8119:0.0	.	334	P34932	HSP74_HUMAN	N	334	ENSP00000302961:D334N	ENSP00000302961:D334N	D	+	1	0	HSPA4	132452009	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	0.868000	0.35678	-0.181000	0.13052	GAT		0.308	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	
FSTL4	23105	broad.mit.edu	37	5	132648367	132648367	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:132648367G>T	ENST00000265342.7	-	6	955	c.706C>A	c.(706-708)Cgc>Agc	p.R236S		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	236						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R236S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGAACTCGCGGAGGGTCAGG	0.527																																					p.R236S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706A	5						.						146.0	126.0	133.0					5																	132648367		2203	4300	6503	132676266	SO:0001583	missense	23105	exon6			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.706C>A	5.37:g.132648367G>T	ENSP00000265342:p.Arg236Ser		132676266	NM_015082	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	G	7.092	0.572438	0.13623	.	.	ENSG00000053108	ENST00000265342	T	0.58940	0.3	5.67	3.83	0.44106	EF-hand-like domain (1);	0.787684	0.12634	N	0.451950	T	0.38295	0.1035	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.17098	0.017	T	0.18429	-1.0337	10	0.23891	T	0.37	-6.9576	13.7267	0.62763	0.0:0.3057:0.6943:0.0	.	236	Q6MZW2	FSTL4_HUMAN	S	236	ENSP00000265342:R236S	ENSP00000265342:R236S	R	-	1	0	FSTL4	132676266	0.952000	0.32445	0.042000	0.18584	0.422000	0.31414	6.106000	0.71511	0.693000	0.31634	0.655000	0.94253	CGC		0.527	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786	
PKD2L2	27039	broad.mit.edu	37	5	137257338	137257338	+	Nonsense_Mutation	SNP	C	C	T	rs201700977		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:137257338C>T	ENST00000508883.1	+	9	1368	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	PKD2L2_ENST00000290431.5_Nonsense_Mutation_p.R448*|PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000502810.1_Nonsense_Mutation_p.R426*|PKD2L2_ENST00000350250.4_Nonsense_Mutation_p.R414*			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	448					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.R448*(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)			TGCACAATTTCGAATTGTTCT	0.323																																					p.R448X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1342T	5						.	C	stop/ARG	0,3592		0,0,1796	123.0	111.0	114.0		1342	5.9	1.0	5		114	2,8142		0,2,4070	yes	stop-gained	PKD2L2	NM_014386.2		0,2,5866	TT,TC,CC		0.0246,0.0,0.017		448/614	137257338	2,11734	1796	4072	5868	137285237	SO:0001587	stop_gained	27039	exon9			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.1342C>T	5.37:g.137257338C>T	ENSP00000424725:p.Arg448*		137285237	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Nonsense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	C	37	6.213939	0.97380	0.0	2.46E-4	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	.	.	.	5.89	5.89	0.94794	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7685	19.8512	0.96741	0.0:1.0:0.0:0.0	.	.	.	.	X	414;426;448;448	.	ENSP00000290431:R448X	R	+	1	2	PKD2L2	137285237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.215000	0.65241	2.797000	0.96272	0.563000	0.77884	CGA		0.323	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
FAM13B	51306	broad.mit.edu	37	5	137281985	137281985	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:137281985G>T	ENST00000033079.3	-	18	2561	c.2110C>A	c.(2110-2112)Cat>Aat	p.H704N	FAM13B_ENST00000425075.2_Intron|FAM13B_ENST00000420893.2_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	704					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.H704N(1)		endometrium(4)|kidney(2)|lung(5)	11						TCTACCAAATGATCTTTGGTC	0.294																																					p.H704N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2110A	5						.						52.0	59.0	57.0					5																	137281985		2200	4290	6490	137309884	SO:0001583	missense	51306	exon18			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2110C>A	5.37:g.137281985G>T	ENSP00000033079:p.His704Asn		137309884	NM_016603	D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432798	0.43224	.	.	ENSG00000031003	ENST00000033079	T	0.08193	3.12	5.71	4.83	0.62350	.	0.230194	0.44483	D	0.000442	T	0.07503	0.0189	L	0.34521	1.04	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.14420	-1.0473	10	0.59425	D	0.04	-7.1086	8.97	0.35901	0.0686:0.0:0.6683:0.2631	.	704	Q9NYF5	FA13B_HUMAN	N	704	ENSP00000033079:H704N	ENSP00000033079:H704N	H	-	1	0	FAM13B	137309884	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.978000	0.70501	1.395000	0.46643	0.467000	0.42956	CAT		0.294	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1		
BRD8	10902	broad.mit.edu	37	5	137488269	137488269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:137488269C>A	ENST00000254900.5	-	21	3129	c.2758G>T	c.(2758-2760)Gaa>Taa	p.E920*		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	920					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.E920*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACTAGGTTCTCTCTCCGGG	0.547																																					p.E920X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2758T	5						.						212.0	214.0	213.0					5																	137488269		2203	4300	6503	137516168	SO:0001587	stop_gained	10902	exon21			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2758G>T	5.37:g.137488269C>A	ENSP00000254900:p.Glu920*		137516168	NM_139199	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	44	11.046822	0.99507	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	.	.	.	5.39	5.39	0.77823	.	0.000000	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	0.3052	16.0138	0.80422	0.0:1.0:0.0:0.0	.	.	.	.	X	920;26	.	ENSP00000254900:E920X	E	-	1	0	BRD8	137516168	0.961000	0.32948	1.000000	0.80357	0.923000	0.55619	2.918000	0.48829	2.795000	0.96236	0.655000	0.94253	GAA		0.547	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
ETF1	2107	broad.mit.edu	37	5	137847186	137847186	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:137847186G>T	ENST00000360541.5	-	7	1061	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ETF1_ENST00000499810.2_Missense_Mutation_p.F247L|ETF1_ENST00000503014.1_Missense_Mutation_p.F266L	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	280					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.F280L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTCTTGAATGAATTTCACGT	0.348																																					p.F280L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C840A	5						.						83.0	80.0	81.0					5																	137847186		2202	4299	6501	137875085	SO:0001583	missense	2107	exon7			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.840C>A	5.37:g.137847186G>T	ENSP00000353741:p.Phe280Leu		137875085	NM_004730	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700897	0.48307	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	.	.	.	5.74	2.05	0.26809	eRF1 domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.59436	1.845	0.80722	D	1	B;B;B	0.25169	0.119;0.002;0.031	B;B;B	0.23275	0.045;0.007;0.04	T	0.27297	-1.0078	9	0.24483	T	0.36	-5.8356	8.8681	0.35298	0.3526:0.0:0.6474:0.0	.	266;247;280	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	L	247;280;266	.	ENSP00000353741:F280L	F	-	3	2	ETF1	137875085	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.899000	0.48679	0.100000	0.17581	-0.140000	0.14226	TTC		0.348	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
ETF1	2107	broad.mit.edu	37	5	137848478	137848478	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:137848478A>C	ENST00000360541.5	-	6	928	c.707T>G	c.(706-708)cTa>cGa	p.L236R	ETF1_ENST00000499810.2_Missense_Mutation_p.L203R|ETF1_ENST00000503014.1_Missense_Mutation_p.L222R	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	236					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.L236R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGATTGACTTAGTTCAGTTTT	0.428																																					p.L236R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T707G	5						.						72.0	71.0	71.0					5																	137848478		2203	4300	6503	137876377	SO:0001583	missense	2107	exon6			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.707T>G	5.37:g.137848478A>C	ENSP00000353741:p.Leu236Arg		137876377	NM_004730	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612050	0.87258	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	T;T;T	0.56444	0.46;0.46;0.46	5.48	5.48	0.80851	eRF1 domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.991;0.995;0.997	D	0.90457	0.4443	10	0.87932	D	0	-0.2475	15.2674	0.73672	1.0:0.0:0.0:0.0	.	222;203;236	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	R	203;236;222	ENSP00000421288:L203R;ENSP00000353741:L236R;ENSP00000422203:L222R	ENSP00000353741:L236R	L	-	2	0	ETF1	137876377	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.225000	0.95219	2.081000	0.62600	0.533000	0.62120	CTA		0.428	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730	
LRRTM2	26045	broad.mit.edu	37	5	138210120	138210120	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:138210120G>A	ENST00000274711.6	-	2	508	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000518785.1_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000355078.5_Intron|LRRTM2_ENST00000523537.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	44	LRRNT.				long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L44F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGTAGAAGAGCAGCTTCTCG	0.552																																					p.L44F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C130T	5						.						41.0	41.0	41.0					5																	138210120		2003	4157	6160	138238019	SO:0001583	missense	26045	exon2			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.130C>T	5.37:g.138210120G>A	ENSP00000274711:p.Leu44Phe		138238019	NM_015564	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440801	0.25900	.	.	ENSG00000146006	ENST00000274711	T	0.04502	3.61	5.14	5.14	0.70334	Leucine-rich repeat-containing N-terminal (1);	0.085592	0.51477	D	0.000093	T	0.02888	0.0086	N	0.14661	0.345	0.47819	D	0.999522	B	0.24721	0.11	B	0.20577	0.03	T	0.42783	-0.9431	10	0.07030	T	0.85	.	11.82	0.52232	0.0805:0.0:0.9195:0.0	.	44	O43300	LRRT2_HUMAN	F	44	ENSP00000274711:L44F	ENSP00000274711:L44F	L	-	1	0	LRRTM2	138238019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.491000	0.73649	2.675000	0.91044	0.655000	0.94253	CTC		0.552	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2		
DNAJC18	202052	broad.mit.edu	37	5	138760743	138760743	+	Missense_Mutation	SNP	C	C	T	rs201230885		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:138760743C>T	ENST00000302060.5	-	5	700	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	207						integral component of membrane (GO:0016021)		p.R207Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTCTCATGTCGGTGCCGTCG	0.458																																					p.R207Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G620A	5						.						269.0	245.0	253.0					5																	138760743		2203	4300	6503	138788642	SO:0001583	missense	202052	exon5			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.620G>A	5.37:g.138760743C>T	ENSP00000302843:p.Arg207Gln		138788642	NM_152686		Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946856	0.73672	.	.	ENSG00000170464	ENST00000302060;ENST00000508445	T;T	0.58940	0.3;0.86	5.72	5.72	0.89469	.	0.062425	0.64402	D	0.000005	T	0.67382	0.2887	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.61686	-0.7012	10	0.22706	T	0.39	0.0921	11.8524	0.52419	0.0:0.9196:0.0:0.0804	.	207	Q9H819	DJC18_HUMAN	Q	207;40	ENSP00000302843:R207Q;ENSP00000426338:R40Q	ENSP00000302843:R207Q	R	-	2	0	DNAJC18	138788642	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	2.812000	0.47994	2.699000	0.92147	0.563000	0.77884	CGA		0.458	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
DNAH5	1767	broad.mit.edu	37	5	13885136	13885136	+	Missense_Mutation	SNP	C	C	T	rs200704983		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:13885136C>T	ENST00000265104.4	-	19	3049	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	982	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.R982H(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATACGTTTGCGAATGGCCTC	0.443									Kartagener syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		16035	0.001		0.0	False		,,,				2504	0.0				p.R982H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2945A	5						.						126.0	118.0	121.0					5																	13885136		2203	4300	6503	13938136	SO:0001583	missense	1767	exon19	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.2945G>A	5.37:g.13885136C>T	ENSP00000265104:p.Arg982His		13938136	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	22.0	4.237217	0.79800	.	.	ENSG00000039139	ENST00000265104	T	0.25579	1.79	5.73	5.73	0.89815	.	0.056303	0.64402	D	0.000001	T	0.35885	0.0947	M	0.78049	2.395	0.80722	D	1	B	0.30179	0.271	B	0.26310	0.068	T	0.21109	-1.0255	10	0.59425	D	0.04	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	982	Q8TE73	DYH5_HUMAN	H	982	ENSP00000265104:R982H	ENSP00000265104:R982H	R	-	2	0	DNAH5	13938136	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.251000	0.78297	2.722000	0.93159	0.655000	0.94253	CGC		0.443	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
NRG2	9542	broad.mit.edu	37	5	139245195	139245195	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:139245195G>T	ENST00000361474.1	-	5	1352	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L	NRG2_ENST00000545385.1_Intron|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000340391.3_Missense_Mutation_p.F173L|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000289422.7_Missense_Mutation_p.F376L|NRG2_ENST00000394770.1_Missense_Mutation_p.F376L|NRG2_ENST00000358522.3_Intron	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	376	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.F376L(1)|p.F284L(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTCCGAAGAATCCATTTG	0.433																																					p.F376L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1128A	5						.						86.0	82.0	84.0					5																	139245195		2203	4300	6503	139225379	SO:0001583	missense	9542	exon5				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1128C>A	5.37:g.139245195G>T	ENSP00000354910:p.Phe376Leu		139225379	NM_013982		Missense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667984	0.67814	.	.	ENSG00000158458	ENST00000289422;ENST00000361474;ENST00000446269;ENST00000394770;ENST00000340391;ENST00000544729;ENST00000378238	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.93	5.93	0.95920	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.242522	0.36444	N	0.002597	T	0.47040	0.1424	M	0.89163	3.01	0.58432	D	0.999991	B;B	0.32188	0.245;0.359	B;B	0.33620	0.08;0.167	T	0.53436	-0.8439	10	0.87932	D	0	-19.2332	18.5214	0.90954	0.0:0.0:1.0:0.0	.	376;376	O14511;O14511-3	NRG2_HUMAN;.	L	376;376;376;376;173;284;376	ENSP00000289422:F376L;ENSP00000354910:F376L;ENSP00000378251:F376L;ENSP00000342660:F173L;ENSP00000367483:F376L	ENSP00000289422:F376L	F	-	3	2	NRG2	139225379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.576000	0.90770	2.814000	0.96858	0.655000	0.94253	TTC		0.433	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
ANKHD1	54882	broad.mit.edu	37	5	139838784	139838784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:139838784G>T	ENST00000360839.2	+	9	1670	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E506*|ANKHD1_ENST00000394723.3_Nonsense_Mutation_p.E506*|ANKHD1_ENST00000394722.3_Nonsense_Mutation_p.E495*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.E506*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	506						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E506*(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)			AGAAACTCAAGAAACTGCTCT	0.363																																					p.E506X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1516T	5						.						74.0	75.0	75.0					5																	139838784		2203	4300	6503	139818968	SO:0001587	stop_gained	404734	exon9			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.1516G>T	5.37:g.139838784G>T	ENSP00000354085:p.Glu506*		139818968	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	40	8.504266	0.98841	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.4165	0.94703	0.0:0.0:1.0:0.0	.	.	.	.	X	506;520;506;506;21;506;506;495;506	.	ENSP00000432016:E506X	E	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139818968	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.612000	0.98347	2.604000	0.88044	0.555000	0.69702	GAA		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
ANKHD1	54882	broad.mit.edu	37	5	139866564	139866564	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:139866564A>G	ENST00000360839.2	+	14	2318	c.2164A>G	c.(2164-2166)Aca>Gca	p.T722A	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.T722A|ANKHD1_ENST00000297183.6_Missense_Mutation_p.T722A	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	722						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T722A(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)			GCCAACGCATACACTTGCCAT	0.413																																					p.T722A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2164G	5						.						87.0	80.0	83.0					5																	139866564		2203	4300	6503	139846748	SO:0001583	missense	404734	exon14			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.2164A>G	5.37:g.139866564A>G	ENSP00000354085:p.Thr722Ala		139846748	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	5.573	0.290619	0.10567	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.65364	0.09;0.05;0.07;-0.15;0.05	5.03	3.89	0.44902	Ankyrin repeat-containing domain (1);	0.131318	0.51477	D	0.000092	T	0.30792	0.0776	N	0.04203	-0.255	0.43141	D	0.994899	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.28332	-1.0047	10	0.02654	T	1	.	7.8085	0.29217	0.8205:0.0:0.1795:0.0	.	722;722;722	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	A	722;755;722;722;256;741;128;722	ENSP00000354085:T722A;ENSP00000297183:T722A;ENSP00000394489:T741A;ENSP00000405602:T128A;ENSP00000432016:T722A	ENSP00000432016:T722A	T	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139846748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.848000	0.62874	1.882000	0.54519	0.459000	0.35465	ACA		0.413	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHA2	56146	broad.mit.edu	37	5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	562	Cadherin 5. {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.A562T(4)		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)			GAACGACAACGCGCCGGCACT	0.697																																					p.A562T												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.G1684A	5						.						86.0	84.0	85.0					5																	140176233		2203	4298	6501	140156417	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.1684G>A	5.37:g.140176233G>A	ENSP00000431748:p.Ala562Thr		140156417	NM_018905	O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	19.52	3.842971	0.71488	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.43294	0.95;0.95;0.95	4.05	3.1	0.35709	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.39475	U	0.001345	T	0.52661	0.1748	M	0.65975	2.015	0.32499	N	0.539106	D;P;D	0.60160	0.965;0.609;0.987	P;B;P	0.54140	0.743;0.082;0.743	T	0.67133	-0.5747	10	0.54805	T	0.06	.	13.8621	0.63566	0.0:0.1536:0.8464:0.0	.	562;562;562	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	T	562	ENSP00000430584:A562T;ENSP00000367372:A562T;ENSP00000431748:A562T	ENSP00000367372:A562T	A	+	1	0	PCDHA2	140156417	0.887000	0.30362	0.998000	0.56505	0.724000	0.41520	1.626000	0.37039	1.989000	0.58080	0.644000	0.83932	GCG		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
PCDHA3	56145	broad.mit.edu	37	5	140183257	140183257	+	Intron	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140183257A>C	ENST00000522353.2	+	1	2394				PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Splice_Site_p.*825Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						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.*825Y(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATACATTAATAGTTAAGTA	0.294																																					p.X825Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A2475C	5						.						22.0	27.0	25.0					5																	140183257		2143	4283	6426	140163441	SO:0001627	intron_variant	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+81A>C	5.37:g.140183257A>C			140163441	NM_031497	O75286	Read-through	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	13.05	2.122194	0.37436	.	.	ENSG00000255408	ENST00000532566	.	.	.	3.88	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3436	0.11122	0.7198:0.0:0.104:0.1761	.	.	.	.	Y	825	.	.	X	+	3	2	PCDHA3	140163441	0.000000	0.05858	0.014000	0.15608	0.132000	0.20833	0.713000	0.25794	1.528000	0.49103	0.433000	0.28618	TAA		0.294	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA12	56137	broad.mit.edu	37	5	140255868	140255868	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140255868G>A	ENST00000398631.2	+	1	811	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	271	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.E271K(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATCCAGACGAAGGACTTAA	0.388																																					p.E271K	Pancreas(113;759 1672 13322 24104 50104)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G811A	5						.						108.0	111.0	110.0					5																	140255868		1866	4099	5965	140236052	SO:0001583	missense	56137	exon1			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.811G>A	5.37:g.140255868G>A	ENSP00000381628:p.Glu271Lys		140236052	NM_031864	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631655	0.67015	.	.	ENSG00000251664	ENST00000398631	T	0.52295	0.67	5.07	3.26	0.37387	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.67599	0.2910	M	0.90650	3.135	0.28968	N	0.88941	P;P	0.47191	0.867;0.891	P;P	0.55011	0.52;0.766	T	0.65307	-0.6200	9	0.72032	D	0.01	.	11.1018	0.48179	0.1546:0.0:0.8454:0.0	.	271;271	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	K	271	ENSP00000381628:E271K	ENSP00000381628:E271K	E	+	1	0	PCDHA12	140236052	0.959000	0.32827	0.673000	0.29887	0.775000	0.43874	2.839000	0.48207	1.134000	0.42165	0.591000	0.81541	GAA		0.388	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PCDHB3	56132	broad.mit.edu	37	5	140481307	140481307	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140481307G>T	ENST00000231130.2	+	1	1074	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	358	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.E358D(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)			CTATTCCTGAGAACTCGGGAG	0.483																																					p.E358D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1074T	5						.						88.0	84.0	85.0					5																	140481307		2203	4300	6503	140461491	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.1074G>T	5.37:g.140481307G>T	ENSP00000231130:p.Glu358Asp		140461491	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835209	0.50951	.	.	ENSG00000113205	ENST00000231130	T	0.75367	-0.93	4.93	1.91	0.25777	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.92001	0.7466	H	0.99935	4.985	0.33467	D	0.585708	D	0.89917	1.0	D	0.91635	0.999	D	0.92750	0.6215	9	0.87932	D	0	.	10.4207	0.44348	0.3118:0.0:0.6882:0.0	.	358	Q9Y5E6	PCDB3_HUMAN	D	358	ENSP00000231130:E358D	ENSP00000231130:E358D	E	+	3	2	PCDHB3	140461491	0.000000	0.05858	0.997000	0.53966	0.637000	0.38172	-1.126000	0.03254	0.495000	0.27882	0.655000	0.94253	GAG		0.483	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB3	56132	broad.mit.edu	37	5	140481863	140481863	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140481863G>A	ENST00000231130.2	+	1	1630	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	544	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)			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)			TTTGAGCAGCGAGGCGCTGGT	0.697																																					p.E544K												.	.	0			c.G1630A	5						.						37.0	40.0	39.0					5																	140481863		2200	4296	6496	140462047	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.1630G>A	5.37:g.140481863G>A	ENSP00000231130:p.Glu544Lys		140462047	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311619	0.23821	.	.	ENSG00000113205	ENST00000231130	T	0.01705	4.68	4.14	-0.842	0.10748	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01627	0.0052	N	0.05351	-0.065	0.28741	N	0.901959	P	0.39903	0.694	B	0.42343	0.384	T	0.47686	-0.9098	9	0.52906	T	0.07	.	14.6033	0.68456	0.1088:0.2359:0.6553:0.0	.	544	Q9Y5E6	PCDB3_HUMAN	K	544	ENSP00000231130:E544K	ENSP00000231130:E544K	E	+	1	0	PCDHB3	140462047	0.958000	0.32768	0.994000	0.49952	0.042000	0.13812	0.454000	0.21827	-0.343000	0.08351	-0.974000	0.02594	GAG		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB3	56132	broad.mit.edu	37	5	140482476	140482476	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140482476G>A	ENST00000231130.2	+	1	2243	c.2243G>A	c.(2242-2244)aGc>aAc	p.S748N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	748					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.S748N(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)			CTGTCCCAGAGCTACCAGTAC	0.627																																					p.S748N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2243A	5						.						30.0	32.0	31.0					5																	140482476		2153	4249	6402	140462660	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.2243G>A	5.37:g.140482476G>A	ENSP00000231130:p.Ser748Asn		140462660	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	5.112	0.206291	0.09704	.	.	ENSG00000113205	ENST00000231130	T	0.13657	2.57	4.33	4.33	0.51752	.	.	.	.	.	T	0.13927	0.0337	L	0.52905	1.665	0.22968	N	0.998494	B	0.19200	0.034	B	0.20384	0.029	T	0.10314	-1.0635	9	0.42905	T	0.14	.	6.5759	0.22567	0.1003:0.1845:0.7152:0.0	.	748	Q9Y5E6	PCDB3_HUMAN	N	748	ENSP00000231130:S748N	ENSP00000231130:S748N	S	+	2	0	PCDHB3	140462660	0.000000	0.05858	1.000000	0.80357	0.080000	0.17528	-0.350000	0.07721	2.099000	0.63709	0.491000	0.48974	AGC		0.627	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB7	56129	broad.mit.edu	37	5	140553866	140553866	+	Missense_Mutation	SNP	G	G	A	rs200942040	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140553866G>A	ENST00000231137.3	+	1	1624	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	484	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.A484T(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCACCAACGCCCAGGTCAT	0.642													G|||	4	0.000798722	0.0	0.0	5008	,	,		16191	0.004		0.0	False		,,,				2504	0.0				p.A484T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1450A	5						.						103.0	101.0	102.0					5																	140553866		2203	4300	6503	140534050	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1450G>A	5.37:g.140553866G>A	ENSP00000231137:p.Ala484Thr		140534050	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	g	18.01	3.526939	0.64860	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.52295	0.67	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69780	0.3149	M	0.93197	3.39	0.43043	D	0.994631	D	0.76494	0.999	D	0.71656	0.974	T	0.82914	-0.0221	9	0.87932	D	0	.	16.8701	0.86038	0.0:0.0:1.0:0.0	.	484	Q9Y5E2	PCDB7_HUMAN	T	484;267	ENSP00000231137:A484T	ENSP00000231137:A484T	A	+	1	0	PCDHB7	140534050	0.996000	0.38824	1.000000	0.80357	0.133000	0.20885	6.176000	0.71955	2.112000	0.64535	0.552000	0.68991	GCC		0.642	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB8	56128	broad.mit.edu	37	5	140558318	140558318	+	Missense_Mutation	SNP	G	G	A	rs146359786		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140558318G>A	ENST00000239444.2	+	1	948	c.703G>A	c.(703-705)Gat>Aat	p.D235N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	235	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.D235N(2)		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)			TGAAGTTGTCGATGTCAATGA	0.512																																					p.D235N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G703A	5						.	G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	184.0	230.0	214.0		703	4.2	0.0	5	dbSNP_134	214	0,8566		0,0,4283	no	missense	PCDHB8	NM_019120.3	23	0,1,6485	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	235/802	140558318	1,12971	2203	4283	6486	140538502	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.703G>A	5.37:g.140558318G>A	ENSP00000239444:p.Asp235Asn		140538502	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	14.96	2.691508	0.48097	2.27E-4	0.0	ENSG00000120322	ENST00000239444	T	0.74209	-0.82	4.25	4.25	0.50352	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89136	0.6629	M	0.92459	3.31	0.47584	D	0.999465	D	0.89917	1.0	D	0.97110	1.0	D	0.92309	0.5856	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	235	Q9UN66	PCDB8_HUMAN	N	235	ENSP00000239444:D235N	ENSP00000239444:D235N	D	+	1	0	PCDHB8	140538502	1.000000	0.71417	0.042000	0.18584	0.003000	0.03518	9.809000	0.99208	1.911000	0.55334	0.585000	0.79938	GAT		0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHGA2	56113	broad.mit.edu	37	5	140719984	140719984	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:140719984C>T	ENST00000394576.2	+	1	1446	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	482	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.N482N(2)		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)			CCGACAGCAACGACAATGCTC	0.537																																					p.N482N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1446T	5						.						98.0	102.0	100.0					5																	140719984		2203	4300	6503	140700168	SO:0001819	synonymous_variant	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1446C>T	5.37:g.140719984C>T			140700168	NM_032009	Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.537	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
FCHSD1	89848	broad.mit.edu	37	5	141024217	141024217	+	Missense_Mutation	SNP	C	C	T	rs558644593		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:141024217C>T	ENST00000435817.2	-	16	1615	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R448Q	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	522	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.R522Q(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGAGATATCGCTCAGGGAC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15956	0.0		0.0	False		,,,				2504	0.0				p.R522Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1565A	5						.						71.0	75.0	74.0					5																	141024217		1998	4169	6167	141004401	SO:0001583	missense	89848	exon16			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1565G>A	5.37:g.141024217C>T	ENSP00000399259:p.Arg522Gln		141004401	NM_033449	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535704	0.64972	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.13420	2.59;2.59;2.59	5.56	4.69	0.59074	Src homology-3 domain (3);	0.310909	0.23930	N	0.043153	T	0.13713	0.0332	N	0.20845	0.615	0.80722	D	1	D;P	0.65815	0.995;0.821	P;B	0.51170	0.661;0.266	T	0.03157	-1.1066	10	0.59425	D	0.04	-18.5861	9.4746	0.38864	0.0:0.7953:0.0:0.2047	.	202;522	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	Q	522;448;205	ENSP00000399259:R522Q;ENSP00000428677:R448Q;ENSP00000430448:R205Q	ENSP00000399259:R522Q	R	-	2	0	FCHSD1	141004401	0.897000	0.30589	0.997000	0.53966	0.972000	0.66771	1.482000	0.35486	1.362000	0.46000	0.551000	0.68910	CGA		0.552	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	
NDFIP1	80762	broad.mit.edu	37	5	141515304	141515304	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:141515304T>G	ENST00000253814.4	+	4	762	c.292T>G	c.(292-294)Ttt>Gtt	p.F98V		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	98					cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)	p.F98V(1)		large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGAGGATTTTGTGGGTCG	0.333																																					p.F98V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T292G	5						.						178.0	168.0	171.0					5																	141515304		2203	4300	6503	141495488	SO:0001583	missense	80762	exon4			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.292T>G	5.37:g.141515304T>G	ENSP00000253814:p.Phe98Val		141495488	NM_030571	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	Missense_Mutation	SNP	ENST00000253814.4	37	CCDS4273.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189155	0.78789	.	.	ENSG00000131507	ENST00000253814	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	L	0.52759	1.655	0.80722	D	1	D	0.53619	0.961	P	0.48270	0.572	T	0.54070	-0.8348	9	0.18276	T	0.48	-1.0569	15.3691	0.74548	0.0:0.0:0.0:1.0	.	98	Q9BT67	NFIP1_HUMAN	V	98	.	ENSP00000253814:F98V	F	+	1	0	NDFIP1	141495488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.654000	0.83653	2.122000	0.65172	0.397000	0.26171	TTT		0.333	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251859.2	NM_030571	
TCERG1	10915	broad.mit.edu	37	5	145838593	145838593	+	Silent	SNP	G	G	A	rs140816235	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:145838593G>A	ENST00000296702.5	+	4	623	c.585G>A	c.(583-585)gcG>gcA	p.A195A	TCERG1_ENST00000394421.2_Silent_p.A195A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	195	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.A195A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcgcaggctcagg	0.667																																					p.A195A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G585A	5						.	G	,	1,4403		0,1,2201	29.0	31.0	30.0		585,585	-6.7	0.9	5	dbSNP_134	30	5,8593	3.7+/-12.6	0,5,4294	no	coding-synonymous,coding-synonymous	TCERG1	NM_001040006.1,NM_006706.3	,	0,6,6495	AA,AG,GG		0.0582,0.0227,0.0461	,	195/1078,195/1099	145838593	6,12996	2202	4299	6501	145818786	SO:0001819	synonymous_variant	10915	exon4			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.585G>A	5.37:g.145838593G>A			145818786	NM_001040006	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.667	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
PPP2R2B	5521	broad.mit.edu	37	5	145980011	145980011	+	Missense_Mutation	SNP	G	G	A	rs148423117		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:145980011G>A	ENST00000394413.3	-	7	1373	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PPP2R2B_ENST00000336640.6_Missense_Mutation_p.P271L|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.P334L|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.P268L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.P326L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.P268L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.P274L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.P268L|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.P257L|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.P257L|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	268					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P271L(3)|p.P326L(2)|p.P268L(1)|p.P257L(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTTCCGGCTCTTCAAA	0.413																																					p.P268L												.	.	7	Substitution - Missense(7)	kidney(4)|large_intestine(3)	c.C803T	5						.	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		803,803,803,803,812,743,770	5.8	1.0	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	98,98,98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	268/444,268/444,268/444,268/444,271/447,248/424,257/433	145980011	1,13005	2203	4300	6503	145960204	SO:0001583	missense	5521	exon8			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.803C>T	5.37:g.145980011G>A	ENSP00000377935:p.Pro268Leu		145960204	NM_001127381	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928122	0.73327	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.79475	2.455	0.80722	D	1	P;P;P;P;P;P	0.43750	0.816;0.816;0.816;0.664;0.705;0.816	B;B;B;B;B;B	0.34590	0.13;0.186;0.134;0.13;0.035;0.186	T	0.43637	-0.9379	10	0.51188	T	0.08	-22.597	20.0467	0.97609	0.0:0.0:1.0:0.0	.	326;274;257;334;271;268	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	L	268;257;334;268;268;268;257;271;274;326	ENSP00000377935:P268L;ENSP00000431320:P257L;ENSP00000377936:P334L;ENSP00000377933:P268L;ENSP00000349283:P268L;ENSP00000398779:P268L;ENSP00000377932:P257L;ENSP00000336591:P271L;ENSP00000421396:P274L;ENSP00000377931:P326L	ENSP00000336591:P271L	P	-	2	0	AC011357.1	145960204	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	CCG		0.413	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678	
SPINK5	11005	broad.mit.edu	37	5	147493943	147493943	+	Missense_Mutation	SNP	C	C	T	rs376918928		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:147493943C>T	ENST00000256084.7	+	21	1948	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	SPINK5_ENST00000398454.1_Missense_Mutation_p.R636W|SPINK5_ENST00000359874.3_Missense_Mutation_p.R636W	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	636	Kazal-like 10. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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.R636W(2)		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)			CGATGAATTTCGGAGACTTTT	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17527	0.0		0.0	False		,,,				2504	0.0				p.R636W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1906T	5						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,3656		0,0,1828	61.0	58.0	59.0		1906,1906,1906	3.6	1.0	5		59	2,8176		0,2,4087	no	missense,missense,missense	SPINK5	NM_001127698.1,NM_001127699.1,NM_006846.3	101,101,101	0,2,5915	TT,TC,CC		0.0245,0.0,0.0169	probably-damaging,probably-damaging,probably-damaging	636/1095,636/917,636/1065	147493943	2,11832	1828	4089	5917	147474136	SO:0001583	missense	11005	exon21			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.1906C>T	5.37:g.147493943C>T	ENSP00000256084:p.Arg636Trp		147474136	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684151	0.47991	0.0	2.45E-4	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.42	3.58	0.41010	Proteinase inhibitor I1, Kazal (1);	0.406582	0.20305	N	0.094945	T	0.25644	0.0624	M	0.73430	2.235	0.23848	N	0.996672	P;D;D;D	0.89917	0.826;1.0;1.0;1.0	B;D;D;D	0.72338	0.327;0.977;0.95;0.977	T	0.03706	-1.1011	10	0.44086	T	0.13	-3.814	11.1562	0.48489	0.3354:0.6646:0.0:0.0	.	617;636;636;636	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	W	636;636;617;636	ENSP00000381472:R636W;ENSP00000352936:R636W;ENSP00000421519:R617W;ENSP00000256084:R636W	ENSP00000256084:R636W	R	+	1	2	SPINK5	147474136	0.998000	0.40836	0.998000	0.56505	0.669000	0.39330	0.764000	0.26532	0.724000	0.32296	-0.181000	0.13052	CGG		0.408	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
SPINK5	11005	broad.mit.edu	37	5	147503468	147503468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:147503468C>T	ENST00000256084.7	+	27	2653	c.2611C>T	c.(2611-2613)Cga>Tga	p.R871*	SPINK5_ENST00000398454.1_Nonsense_Mutation_p.R871*|SPINK5_ENST00000359874.3_Nonsense_Mutation_p.R871*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	871	Kazal-like 13. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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.R871*(2)		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)			TAACCCTGTTCGAGGCCCATA	0.388																																					p.R871X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2611T	5						.						109.0	108.0	108.0					5																	147503468		1885	4122	6007	147483661	SO:0001587	stop_gained	11005	exon27			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.2611C>T	5.37:g.147503468C>T	ENSP00000256084:p.Arg871*		147483661	NM_001127699	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398593	0.83120	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	.	.	.	4.36	3.48	0.39840	.	0.000000	0.39475	N	0.001359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-6.1463	9.7341	0.40377	0.206:0.794:0.0:0.0	.	.	.	.	X	871;871;852;871	.	ENSP00000256084:R871X	R	+	1	2	SPINK5	147483661	0.221000	0.23642	1.000000	0.80357	0.244000	0.25665	1.667000	0.37471	1.417000	0.47077	0.585000	0.79938	CGA		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698	
FBXO38	81545	broad.mit.edu	37	5	147790243	147790243	+	Silent	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:147790243C>A	ENST00000340253.5	+	9	1176	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	FBXO38_ENST00000513826.1_Silent_p.V336V|FBXO38_ENST00000394370.3_Silent_p.V336V|FBXO38_ENST00000296701.6_Silent_p.V336V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	336					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V336V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTGTCTTTTCTGCCC	0.393																																					p.V336V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008A	5						.						172.0	169.0	170.0					5																	147790243		2203	4300	6503	147770436	SO:0001819	synonymous_variant	81545	exon9			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1008C>A	5.37:g.147790243C>A			147770436	NM_205836	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37																																																																																					0.393	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
PDE6A	5145	broad.mit.edu	37	5	149324027	149324027	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:149324027C>A	ENST00000255266.5	-	1	329	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	70					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.E70D(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	TCTGTAAATTCTCCTGAAAGT	0.532																																					p.E70D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G210T	5						.						71.0	71.0	71.0					5																	149324027		2203	4300	6503	149304220	SO:0001583	missense	5145	exon1				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.210G>T	5.37:g.149324027C>A	ENSP00000255266:p.Glu70Asp		149304220	NM_000440	Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384781	0.25031	.	.	ENSG00000132915	ENST00000255266	T	0.69561	-0.41	5.47	-0.983	0.10263	.	1.092800	0.06873	N	0.801119	T	0.50429	0.1615	L	0.39633	1.23	0.35569	D	0.805298	B	0.14805	0.011	B	0.17979	0.02	T	0.46965	-0.9153	10	0.08179	T	0.78	.	5.7177	0.17970	0.0:0.328:0.3747:0.2973	.	70	P16499	PDE6A_HUMAN	D	70	ENSP00000255266:E70D	ENSP00000255266:E70D	E	-	3	2	PDE6A	149304220	0.859000	0.29813	0.835000	0.33067	0.838000	0.47535	0.079000	0.14782	-0.196000	0.10366	0.561000	0.74099	GAG		0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2		
SLC26A2	1836	broad.mit.edu	37	5	149360114	149360114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:149360114G>T	ENST00000286298.4	+	3	1226	c.958G>T	c.(958-960)Gaa>Taa	p.E320*		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	320					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.E320*(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCCAACCAAAGAACTCAATGA	0.403																																					p.E320X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G958T	5						.						121.0	113.0	116.0					5																	149360114		2203	4300	6503	149340307	SO:0001587	stop_gained	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.958G>T	5.37:g.149360114G>T	ENSP00000286298:p.Glu320*		149340307	NM_000112	A8K2U3|B2R6J1|Q6N051	Nonsense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	39	7.589697	0.98378	.	.	ENSG00000155850	ENST00000286298	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.4109	0.94671	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000286298:E320X	E	+	1	0	SLC26A2	149340307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.972000	0.88022	2.579000	0.87056	0.585000	0.79938	GAA		0.403	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
SLC26A2	1836	broad.mit.edu	37	5	149361012	149361012	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:149361012G>T	ENST00000286298.4	+	3	2124	c.1856G>T	c.(1855-1857)aGa>aTa	p.R619I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	619	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.			R -> G (in Ref. 6; CAE45819). {ECO:0000305}.	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.R619I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCAGCAAAGAGAAAGATCAAA	0.388																																					p.R619I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856T	5						.						78.0	80.0	79.0					5																	149361012		2203	4300	6503	149341205	SO:0001583	missense	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1856G>T	5.37:g.149361012G>T	ENSP00000286298:p.Arg619Ile		149341205	NM_000112	A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713439	0.48517	.	.	ENSG00000155850	ENST00000286298	D	0.94232	-3.38	6.07	3.27	0.37495	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.244690	0.49305	D	0.000148	D	0.92922	0.7748	M	0.64997	1.995	0.43798	D	0.996343	P	0.45240	0.854	P	0.50314	0.637	D	0.91045	0.4874	10	0.49607	T	0.09	.	8.5329	0.33346	0.0619:0.1131:0.7075:0.1174	.	619	P50443	S26A2_HUMAN	I	619	ENSP00000286298:R619I	ENSP00000286298:R619I	R	+	2	0	SLC26A2	149341205	0.408000	0.25360	0.997000	0.53966	0.726000	0.41606	0.291000	0.18994	0.868000	0.35678	0.655000	0.94253	AGA		0.388	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
ZNF300	91975	broad.mit.edu	37	5	150275179	150275179	+	Missense_Mutation	SNP	C	C	T	rs147702441	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:150275179C>T	ENST00000274599.5	-	6	2042	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.R541Q|ZNF300_ENST00000418587.2_Missense_Mutation_p.R505Q|ZNF300_ENST00000446148.2_Missense_Mutation_p.R557Q	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	541					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.R541Q(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTATGAATTCGCTGGTGTCC	0.433																																					p.R557Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1670A	5						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	59.0	58.0		1670,1514,1622	2.7	1.0	5	dbSNP_134	58	8,8590	7.1+/-27.0	0,8,4291	no	missense,missense,missense	ZNF300	NM_001172831.1,NM_001172832.1,NM_052860.2	43,43,43	0,9,6493	TT,TC,CC		0.093,0.0227,0.0692	probably-damaging,probably-damaging,probably-damaging	557/621,505/569,541/605	150275179	9,12995	2203	4299	6502	150255372	SO:0001583	missense	91975	exon7			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1622G>A	5.37:g.150275179C>T	ENSP00000274599:p.Arg541Gln		150255372	NM_001172831	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338011	0.41398	2.27E-4	9.3E-4	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	3.58	2.7	0.31948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23249	0.0562	L	0.48260	1.515	0.22171	N	0.999311	D	0.63880	0.993	P	0.44860	0.462	T	0.12630	-1.0540	9	0.62326	D	0.03	.	5.6611	0.17670	0.0:0.7535:0.0:0.2465	.	541	Q96RE9	ZN300_HUMAN	Q	557;541;505;541	ENSP00000397178:R557Q;ENSP00000274599:R541Q;ENSP00000392593:R505Q;ENSP00000377773:R541Q	ENSP00000274599:R541Q	R	-	2	0	ZNF300	150255372	0.000000	0.05858	1.000000	0.80357	0.954000	0.61252	-0.365000	0.07573	0.861000	0.35504	0.591000	0.81541	CGA		0.433	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860	
NMUR2	56923	broad.mit.edu	37	5	151771789	151771789	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:151771789C>A	ENST00000255262.3	-	4	1376	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	404					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.R404I(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)			ATAGTTTGTTCTTGACATCTG	0.443																																					p.R404I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1211T	5						.						153.0	161.0	158.0					5																	151771789		2203	4300	6503	151751982	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.1211G>T	5.37:g.151771789C>A	ENSP00000255262:p.Arg404Ile		151751982	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978508	0.18812	.	.	ENSG00000132911	ENST00000255262	T	0.71461	-0.57	3.71	-1.45	0.08828	.	4.715920	0.00166	N	0.000007	T	0.58779	0.2146	L	0.36672	1.1	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.32161	-0.9917	10	0.35671	T	0.21	0.215	4.9622	0.14072	0.1381:0.5123:0.0:0.3496	.	404	Q9GZQ4	NMUR2_HUMAN	I	404	ENSP00000255262:R404I	ENSP00000255262:R404I	R	-	2	0	NMUR2	151751982	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.667000	0.05274	-0.343000	0.08351	-0.444000	0.05651	AGA		0.443	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
LARP1	23367	broad.mit.edu	37	5	154193632	154193632	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:154193632G>A	ENST00000336314.4	+	19	3060	c.3036G>A	c.(3034-3036)tcG>tcA	p.S1012S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1089					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.S1089S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAGCACTCGAACACACAGA	0.607																																					p.S1012S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3036A	5						.						39.0	40.0	40.0					5																	154193632		2203	4300	6503	154173825	SO:0001819	synonymous_variant	23367	exon19			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.3036G>A	5.37:g.154193632G>A			154173825	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	CCDS4328.1																																																																																				0.607	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
HAVCR2	84868	broad.mit.edu	37	5	156533771	156533771	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:156533771A>C	ENST00000307851.4	-	2	991	c.261T>G	c.(259-261)gaT>gaG	p.D87E	HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.D87E|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	87	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D87E(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTGCGGAAATCCCCATTTA	0.483																																					p.D87E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T261G	5						.						158.0	145.0	150.0					5																	156533771		2203	4300	6503	156466349	SO:0001583	missense	84868	exon2			AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.261T>G	5.37:g.156533771A>C	ENSP00000312002:p.Asp87Glu		156466349	NM_032782	B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193967	0.38707	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.66995	-0.24;-0.24	5.48	0.274	0.15654	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.927270	0.01858	N	0.036419	T	0.64594	0.2612	M	0.69823	2.125	0.09310	N	1	B;B	0.26577	0.153;0.03	B;B	0.21151	0.033;0.019	T	0.41142	-0.9525	10	0.49607	T	0.09	2.7796	5.3533	0.16047	0.556:0.1413:0.3027:0.0	.	87;87	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	E	87	ENSP00000312002:D87E;ENSP00000430873:D87E	ENSP00000312002:D87E	D	-	3	2	HAVCR2	156466349	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.997000	0.29731	-0.103000	0.12175	0.533000	0.62120	GAT		0.483	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2		
EBF1	1879	broad.mit.edu	37	5	158140131	158140131	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:158140131C>T	ENST00000313708.6	-	13	1498	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.D398N|EBF1_ENST00000380654.4_Missense_Mutation_p.D375N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	406					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D406N(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGCAATGTCGGCCGCTCTC	0.527			T	HMGA2	lipoma																																p.D406N			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1216A	5						.						87.0	73.0	78.0					5																	158140131		2203	4300	6503	158072709	SO:0001583	missense	1879	exon13			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1216G>A	5.37:g.158140131C>T	ENSP00000322898:p.Asp406Asn		158072709	NM_024007	Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463074	0.96257	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.48201	0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.997;0.999	P;D;P;P	0.64877	0.612;0.93;0.686;0.89	T	0.72450	-0.4290	10	0.59425	D	0.04	-9.1318	20.2985	0.98592	0.0:1.0:0.0:0.0	.	406;393;406;375	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	N	406;406;375;398	ENSP00000322898:D406N;ENSP00000370029:D375N;ENSP00000428020:D398N	ENSP00000322898:D406N	D	-	1	0	EBF1	158072709	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAC		0.527	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
SLU7	10569	broad.mit.edu	37	5	159835031	159835031	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:159835031T>G	ENST00000297151.4	-	9	1251	c.864A>C	c.(862-864)aaA>aaC	p.K288N		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	288					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.K288N(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCTCTAGTTTTTGGATCAT	0.303																																					p.K288N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A864C	5						.						152.0	162.0	158.0					5																	159835031		2203	4300	6503	159767609	SO:0001583	missense	10569	exon9			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.864A>C	5.37:g.159835031T>G	ENSP00000297151:p.Lys288Asn		159767609	NM_006425	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231726	0.79688	.	.	ENSG00000164609	ENST00000297151	T	0.65916	-0.18	6.16	5.02	0.67125	Pre-mRNA splicing Prp18-interacting factor (1);	0.041485	0.85682	D	0.000000	T	0.81427	0.4820	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84831	0.0802	10	0.87932	D	0	-10.07	11.8233	0.52252	0.0:0.0674:0.0:0.9326	.	288	O95391	SLU7_HUMAN	N	288	ENSP00000297151:K288N	ENSP00000297151:K288N	K	-	3	2	SLU7	159767609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.070000	0.50033	2.367000	0.80283	0.528000	0.53228	AAA		0.303	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	
SLU7	10569	broad.mit.edu	37	5	159835664	159835664	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:159835664G>T	ENST00000297151.4	-	7	1067	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	227					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.S227Y(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACCATCTGAGAATTTGGTTC	0.294																																					p.S227Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680A	5						.						64.0	67.0	66.0					5																	159835664		2203	4295	6498	159768242	SO:0001583	missense	10569	exon7			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.680C>A	5.37:g.159835664G>T	ENSP00000297151:p.Ser227Tyr		159768242	NM_006425	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499499	0.44455	.	.	ENSG00000164609	ENST00000297151	T	0.45276	0.9	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.058746	0.64402	D	0.000001	T	0.40619	0.1124	L	0.52573	1.65	0.49582	D	0.999803	B	0.10296	0.003	B	0.09377	0.004	T	0.13683	-1.0500	10	0.59425	D	0.04	-23.6165	14.9398	0.70983	0.0675:0.0:0.9325:0.0	.	227	O95391	SLU7_HUMAN	Y	227	ENSP00000297151:S227Y	ENSP00000297151:S227Y	S	-	2	0	SLU7	159768242	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.310000	0.65780	2.937000	0.99478	0.650000	0.86243	TCT		0.294	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	
ATP10B	23120	broad.mit.edu	37	5	160113098	160113098	+	Missense_Mutation	SNP	C	C	T	rs201710345		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:160113098C>T	ENST00000327245.5	-	6	1304	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'Flank	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	153					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R153Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCATAAATTCGAATGTTGGA	0.423																																					p.R153Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	5						.	C	GLN/ARG	0,3746		0,0,1873	88.0	82.0	84.0		458	-5.6	0.0	5		84	2,8214		0,2,4106	no	missense	ATP10B	NM_025153.2	43	0,2,5979	TT,TC,CC		0.0243,0.0,0.0167	benign	153/1462	160113098	2,11960	1873	4108	5981	160045676	SO:0001583	missense	23120	exon6			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.458G>A	5.37:g.160113098C>T	ENSP00000313600:p.Arg153Gln		160045676	NM_025153	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	6.919	0.539295	0.13250	0.0	2.43E-4	ENSG00000118322	ENST00000327245	T	0.72167	-0.63	5.24	-5.61	0.02489	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.032440	0.07663	N	0.934141	T	0.46425	0.1392	N	0.04655	-0.195	0.09310	N	1	B;B;B	0.16396	0.017;0.011;0.003	B;B;B	0.14023	0.01;0.009;0.002	T	0.36792	-0.9733	9	.	.	.	.	17.0574	0.86537	0.0:0.8307:0.0:0.1693	.	197;153;153	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	153	ENSP00000313600:R153Q	.	R	-	2	0	ATP10B	160045676	0.001000	0.12720	0.001000	0.08648	0.643000	0.38383	-0.085000	0.11250	-1.212000	0.02620	-0.136000	0.14681	CGA		0.423	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
HMMR	3161	broad.mit.edu	37	5	162896761	162896761	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:162896761C>A	ENST00000358715.3	+	5	421	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	HMMR_ENST00000432118.2_Missense_Mutation_p.L43I|HMMR_ENST00000393915.4_Missense_Mutation_p.L130I|HMMR_ENST00000353866.3_Missense_Mutation_p.L114I			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	129					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.L129I(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAAAACATCTCTCTCTGCAAA	0.408																																					p.L114I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C340A	5						.						121.0	109.0	113.0					5																	162896761		2203	4300	6503	162829339	SO:0001583	missense	3161	exon4			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.385C>A	5.37:g.162896761C>A	ENSP00000351554:p.Leu129Ile		162829339	NM_012485	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071587	0.76301	.	.	ENSG00000072571	ENST00000416990;ENST00000520345;ENST00000522094;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000432118;ENST00000358715	T;T;T;T;T	0.81247	1.19;-1.47;-1.47;1.51;-1.47	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89420	0.6710	M	0.74258	2.255	0.44702	D	0.997691	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.997;0.997	D	0.89980	0.4100	10	0.52906	T	0.07	-0.9364	16.9456	0.86229	0.1289:0.8711:0.0:0.0	.	43;130;114;129	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	I	15;15;15;114;114;130;43;129	ENSP00000400527:L15I;ENSP00000185942:L114I;ENSP00000377492:L130I;ENSP00000402673:L43I;ENSP00000351554:L129I	ENSP00000185942:L114I	L	+	1	0	HMMR	162829339	1.000000	0.71417	0.933000	0.37362	0.676000	0.39594	5.623000	0.67757	1.602000	0.50124	0.655000	0.94253	CTC		0.408	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
TENM2	57451	broad.mit.edu	37	5	167626074	167626074	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:167626074C>A	ENST00000518659.1	+	16	3156	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	TENM2_ENST00000519204.1_Missense_Mutation_p.F918L|TENM2_ENST00000403607.2_Missense_Mutation_p.F863L|TENM2_ENST00000520394.1_Missense_Mutation_p.F807L|TENM2_ENST00000545108.1_Missense_Mutation_p.F1039L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1039					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.F872L(1)|p.F1039L(1)									TGTCCACCTTCTTTAGTGCTG	0.577																																					p.F1030L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3090A	5						.						64.0	66.0	66.0					5																	167626074		2048	4193	6241	167558652	SO:0001583	missense	57451	exon16			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.3117C>A	5.37:g.167626074C>A	ENSP00000429430:p.Phe1039Leu		167558652	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	C	16.58	3.163281	0.57476	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.11;-2.09;-2.21;-2.55;-2.58	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.84433	2.695	0.46542	D	0.999095	B;B;D	0.58268	0.149;0.023;0.982	B;B;D	0.68943	0.109;0.034;0.961	D	0.92565	0.6061	10	0.29301	T	0.29	.	12.555	0.56248	0.0:0.9236:0.0:0.0764	.	1039;1039;807	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	L	1039;1039;918;807;863	ENSP00000429430:F1039L;ENSP00000438635:F1039L;ENSP00000428964:F918L;ENSP00000427874:F807L;ENSP00000384905:F863L	ENSP00000384905:F863L	F	+	3	2	ODZ2	167558652	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.825000	0.62708	2.545000	0.85829	0.563000	0.77884	TTC		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
DOCK2	1794	broad.mit.edu	37	5	169122842	169122842	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169122842T>G	ENST00000256935.8	+	10	959	c.879T>G	c.(877-879)atT>atG	p.I293M		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	293					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.I293M(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)			GGGATAAAATTTACTTGATTT	0.458																																					p.I293M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T879G	5						.						95.0	100.0	98.0					5																	169122842		2203	4300	6503	169055420	SO:0001583	missense	1794	exon10			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.879T>G	5.37:g.169122842T>G	ENSP00000256935:p.Ile293Met		169055420	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267185	0.40095	.	.	ENSG00000134516	ENST00000256935	T	0.18338	2.22	5.98	0.521	0.17046	.	0.046530	0.85682	D	0.000000	T	0.13927	0.0337	L	0.50333	1.59	0.80722	D	1	B	0.31485	0.325	B	0.28385	0.089	T	0.06427	-1.0827	10	0.44086	T	0.13	.	9.3421	0.38087	0.0:0.3183:0.0:0.6817	.	293	Q92608	DOCK2_HUMAN	M	293	ENSP00000256935:I293M	ENSP00000256935:I293M	I	+	3	3	DOCK2	169055420	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.033000	0.30191	-0.130000	0.11599	0.528000	0.53228	ATT		0.458	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
DOCK2	1794	broad.mit.edu	37	5	169504787	169504787	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169504787C>A	ENST00000256935.8	+	48	5020	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	DOCK2_ENST00000540750.1_Missense_Mutation_p.S708Y|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1139Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1647					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.S1647Y(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)			TCCATCATCTCTCTGGCTTCC	0.597																																					p.S1647Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4940A	5						.						134.0	117.0	123.0					5																	169504787		2203	4300	6503	169437365	SO:0001583	missense	1794	exon48			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.4940C>A	5.37:g.169504787C>A	ENSP00000256935:p.Ser1647Tyr		169437365	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722170	0.68959	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.11169	3.53;3.15;2.8	5.08	5.08	0.68730	.	0.070590	0.64402	D	0.000013	T	0.16214	0.0390	L	0.34521	1.04	0.48696	D	0.999693	P;D;P	0.54397	0.845;0.966;0.681	B;P;B	0.50440	0.185;0.641;0.185	T	0.00766	-1.1575	10	0.72032	D	0.01	.	17.3229	0.87241	0.0:1.0:0.0:0.0	.	1139;203;1647	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Y	1647;1139;708	ENSP00000256935:S1647Y;ENSP00000429283:S1139Y;ENSP00000438827:S708Y	ENSP00000256935:S1647Y	S	+	2	0	DOCK2	169437365	1.000000	0.71417	0.987000	0.45799	0.963000	0.63663	6.785000	0.75089	2.387000	0.81309	0.558000	0.71614	TCT		0.597	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
FOXI1	2299	broad.mit.edu	37	5	169533233	169533233	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169533233T>G	ENST00000306268.6	+	1	333	c.272T>G	c.(271-273)gTg>gGg	p.V91G	FOXI1_ENST00000449804.2_Missense_Mutation_p.V91G			Q12951	FOXI1_HUMAN	forkhead box I1	91	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V91G(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTATGGAGTGCAGAGGCCG	0.706									Pendred syndrome																												p.V91G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T272G	5						.						8.0	7.0	7.0					5																	169533233		2178	4248	6426	169465811	SO:0001583	missense	2299	exon1	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.272T>G	5.37:g.169533233T>G	ENSP00000304286:p.Val91Gly		169465811	NM_144769	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	T	2.607	-0.291728	0.05568	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94457	-3.32;-3.43	5.15	3.99	0.46301	.	0.192211	0.51477	D	0.000085	D	0.88481	0.6448	L	0.31664	0.95	0.45962	D	0.998784	B;B	0.26547	0.152;0.094	B;B	0.24006	0.05;0.037	T	0.81718	-0.0805	10	0.15499	T	0.54	.	10.642	0.45598	0.0:0.0752:0.0:0.9248	.	91;91	Q12951-2;Q12951	.;FOXI1_HUMAN	G	91	ENSP00000304286:V91G;ENSP00000415483:V91G	ENSP00000304286:V91G	V	+	2	0	FOXI1	169465811	1.000000	0.71417	0.461000	0.27105	0.030000	0.12068	4.031000	0.57267	0.815000	0.34398	0.533000	0.62120	GTG		0.706	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
FOXI1	2299	broad.mit.edu	37	5	169535099	169535099	+	Silent	SNP	C	C	T	rs532647880		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169535099C>T	ENST00000306268.6	+	2	682	c.621C>T	c.(619-621)ttC>ttT	p.F207F	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	207					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F207F(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAATGTTCGACAATGGAA	0.468									Pendred syndrome																												p.F207F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	5						.						73.0	71.0	72.0					5																	169535099		2203	4300	6503	169467677	SO:0001819	synonymous_variant	2299	exon2	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.621C>T	5.37:g.169535099C>T			169467677	NM_012188	Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	CCDS4372.1																																																																																				0.468	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
C5orf58	133874	broad.mit.edu	37	5	169661157	169661157	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169661157A>C	ENST00000521850.1	+	1	1707	c.18A>C	c.(16-18)gaA>gaC	p.E6D	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.E6D			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	6								p.E6D(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						AAATTGCAGAAATTCTCCCTG	0.403																																					p.E6D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A18C	5						.						117.0	113.0	115.0					5																	169661157		1861	4106	5967	169593735	SO:0001583	missense	133874	exon2			BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.18A>C	5.37:g.169661157A>C	ENSP00000428956:p.Glu6Asp		169593735	NM_001102609		Missense_Mutation	SNP	ENST00000521850.1	37	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	A	9.398	1.077205	0.20227	.	.	ENSG00000234511	ENST00000521850	.	.	.	3.87	-6.59	0.01830	.	.	.	.	.	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B	0.22604	0.072	B	0.24701	0.055	T	0.38045	-0.9679	8	0.87932	D	0	.	10.4055	0.44254	0.2353:0.6761:0.0886:0.0	.	6	C9J3I9	CE058_HUMAN	D	6	.	ENSP00000428956:E6D	E	+	3	2	C5orf58	169593735	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.985000	0.03751	-1.176000	0.02747	0.533000	0.62120	GAA		0.403	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1	NM_001102609	
LCP2	3937	broad.mit.edu	37	5	169689852	169689852	+	Missense_Mutation	SNP	G	G	A	rs369378243		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:169689852G>A	ENST00000046794.5	-	12	1427	c.812C>T	c.(811-813)gCg>gTg	p.A271V	LCP2_ENST00000521416.1_Missense_Mutation_p.A66V	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	271					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.A271V(2)		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)		TTACCTTCCCGCTGGAATCGA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		21173	0.0		0.0	False		,,,				2504	0.001				p.A271V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C812T	5						.	G	VAL/ALA	0,3940		0,0,1970	131.0	129.0	130.0		812	-3.8	0.0	5		130	1,8321		0,1,4160	no	missense	LCP2	NM_005565.3	64	0,1,6130	AA,AG,GG		0.012,0.0,0.0082	benign	271/534	169689852	1,12261	1970	4161	6131	169622430	SO:0001583	missense	3937	exon12				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.812C>T	5.37:g.169689852G>A	ENSP00000046794:p.Ala271Val		169622430	NM_005565	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	37	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	G	7.714	0.695785	0.15106	0.0	1.2E-4	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.47528	0.88;0.84	5.4	-3.84	0.04256	.	1.768460	0.02589	N	0.099729	T	0.32164	0.0820	L	0.36672	1.1	0.09310	N	1	B;B;B	0.15141	0.012;0.006;0.003	B;B;B	0.10450	0.005;0.001;0.003	T	0.05162	-1.0902	9	.	.	.	-0.271	1.8643	0.03195	0.295:0.3744:0.2038:0.1268	.	66;271;271	E7ESF6;A8KA25;Q13094	.;.;LCP2_HUMAN	V	271;66;38	ENSP00000046794:A271V;ENSP00000428871:A66V	.	A	-	2	0	LCP2	169622430	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.042000	0.13949	-0.786000	0.04516	-0.176000	0.13171	GCG		0.433	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
GABRP	2568	broad.mit.edu	37	5	170238981	170238981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:170238981G>T	ENST00000518525.1	+	11	1506	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	GABRP_ENST00000265294.4_Nonsense_Mutation_p.E348*|GABRP_ENST00000519385.1_Missense_Mutation_p.R285I			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	348					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.E348*(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)	GGAAGTAGAAGAAGTCAGTAT	0.373																																					p.E348X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1042T	5						.						113.0	106.0	109.0					5																	170238981		2203	4300	6503	170171559	SO:0001587	stop_gained	2568	exon10			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.1042G>T	5.37:g.170238981G>T	ENSP00000430100:p.Glu348*		170171559	NM_014211	A8KA36|D3DQL2|Q32MJ1	Nonsense_Mutation	SNP	ENST00000518525.1	37	CCDS4375.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.581168|6.581168	0.97680|0.97680	.|.	.|.	ENSG00000094755|ENSG00000094755	ENST00000518525;ENST00000265294|ENST00000539175;ENST00000519385	.|T	.|0.74106	.|-0.81	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.113271|.	0.64402|.	D|.	0.000017|.	.|T	.|0.72550	.|0.3474	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.50943	.|0.94	.|B	.|0.41571	.|0.36	.|T	.|0.77451	.|-0.2583	.|8	0.02654|0.87932	T|D	1|0	.|.	17.6875|17.6875	0.88260|0.88260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|285	.|E7EWG0	.|.	X|I	348|183;285	.|ENSP00000430727:R285I	ENSP00000265294:E348X|ENSP00000430727:R285I	E|R	+|+	1|2	0|0	GABRP|GABRP	170171559|170171559	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	6.743000|6.743000	0.74848|0.74848	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.373	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211	
FBXW11	23291	broad.mit.edu	37	5	171303406	171303406	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:171303406C>T	ENST00000265094.5	-	8	1178	c.1041G>A	c.(1039-1041)atG>atA	p.M347I	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.M334I|FBXW11_ENST00000425623.2_Missense_Mutation_p.M315I|FBXW11_ENST00000393802.2_Missense_Mutation_p.M313I	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	347					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.M347I(1)|p.M334I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGCAGAAGCCATGTCCCACA	0.532																																					p.M313I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G939A	5						.						137.0	91.0	107.0					5																	171303406		2203	4300	6503	171236011	SO:0001583	missense	23291	exon7			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1041G>A	5.37:g.171303406C>T	ENSP00000265094:p.Met347Ile		171236011	NM_033645	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717891	0.68844	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.31510	1.49;2.4;1.49;1.49	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.02765	-0.5	0.80722	D	1	B;P;D;P	0.53312	0.234;0.934;0.959;0.772	B;P;P;B	0.51415	0.051;0.669;0.608;0.216	T	0.30880	-0.9963	10	0.34782	T	0.22	-22.2761	18.9884	0.92782	0.0:1.0:0.0:0.0	.	315;313;347;334	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	I	334;347;313;315	ENSP00000296933:M334I;ENSP00000265094:M347I;ENSP00000377391:M313I;ENSP00000444929:M315I	ENSP00000265094:M347I	M	-	3	0	FBXW11	171236011	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.911000	0.69939	2.648000	0.89879	0.650000	0.86243	ATG		0.532	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300	
STK10	6793	broad.mit.edu	37	5	171533668	171533668	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:171533668C>A	ENST00000176763.5	-	6	1087	c.744G>T	c.(742-744)aaG>aaT	p.K248N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.K248N(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTTGGCGATCTTTAGCAGGA	0.652											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K248N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G744T	5						.						117.0	106.0	110.0					5																	171533668		2203	4300	6503	171466273	SO:0001583	missense	6793	exon6			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.744G>T	5.37:g.171533668C>A	ENSP00000176763:p.Lys248Asn	1893	171466273	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153232	0.38021	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.26223	1.75	4.86	1.06	0.20224	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	0.28034	0.0691	N	0.17922	0.545	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.07195	-1.0785	10	0.72032	D	0.01	.	5.3626	0.16095	0.1402:0.6248:0.0:0.2349	.	248	O94804	STK10_HUMAN	N	248	ENSP00000176763:K248N	ENSP00000176763:K248N	K	-	3	2	STK10	171466273	0.741000	0.28217	0.997000	0.53966	0.004000	0.04260	0.345000	0.19979	0.007000	0.14760	-0.895000	0.02911	AAG		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
NSD1	64324	broad.mit.edu	37	5	176562826	176562826	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:176562826G>T	ENST00000439151.2	+	2	767	c.722G>T	c.(721-723)aGa>aTa	p.R241I	NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.R241I|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	241					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.R241I(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)		AATAAGCAAAGAAATGAAGTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.R241I			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G722T	5						.						84.0	82.0	82.0					5																	176562826		2203	4300	6503	176495432	SO:0001583	missense	64324	exon2	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.722G>T	5.37:g.176562826G>T	ENSP00000395929:p.Arg241Ile		176495432	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187807	0.57909	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94687	-3.25;-3.49	4.74	4.74	0.60224	.	0.000000	0.48767	D	0.000171	D	0.94098	0.8108	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.80764	0.994;0.986;0.991	D	0.94581	0.7779	10	0.72032	D	0.01	.	13.1063	0.59249	0.0:0.0:1.0:0.0	.	241;241;241	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	I	241	ENSP00000395929:R241I;ENSP00000354310:R241I	ENSP00000354310:R241I	R	+	2	0	NSD1	176495432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.069000	0.50026	2.459000	0.83118	0.655000	0.94253	AGA		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
ZNF354B	117608	broad.mit.edu	37	5	178309840	178309840	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:178309840G>T	ENST00000322434.3	+	5	613	c.387G>T	c.(385-387)gaG>gaT	p.E129D	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	129					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.E129D(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATATGAAGAGAAATTAAAGA	0.328																																					p.E129D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G387T	5						.						39.0	41.0	40.0					5																	178309840		2170	4291	6461	178242446	SO:0001583	missense	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.387G>T	5.37:g.178309840G>T	ENSP00000327143:p.Glu129Asp		178242446	NM_058230	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.815310	0.00073	.	.	ENSG00000178338	ENST00000322434;ENST00000520377	T;T	0.05786	3.39;6.21	3.53	-1.58	0.08479	.	.	.	.	.	T	0.02533	0.0077	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46498	-0.9187	9	0.02654	T	1	.	5.5479	0.17073	0.0:0.2362:0.4711:0.2927	.	129	Q96LW1	Z354B_HUMAN	D	129	ENSP00000327143:E129D;ENSP00000429827:E129D	ENSP00000327143:E129D	E	+	3	2	ZNF354B	178242446	0.000000	0.05858	0.005000	0.12908	0.161000	0.22273	-1.393000	0.02521	-0.193000	0.10415	-0.311000	0.09066	GAG		0.328	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZFP2	80108	broad.mit.edu	37	5	178358763	178358763	+	Missense_Mutation	SNP	G	G	T	rs376749929		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:178358763G>T	ENST00000361362.2	+	5	979	c.449G>T	c.(448-450)aGa>aTa	p.R150I	ZFP2_ENST00000523286.1_Missense_Mutation_p.R150I|ZFP2_ENST00000520301.1_Missense_Mutation_p.R150I|ZFP2_ENST00000503510.2_Missense_Mutation_p.R150I	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	150					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.R150I(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTACATCAAAGAATTCATACT	0.413																																					p.R150I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G449T	5						.	G	ILE/ARG	0,4406		0,0,2203	52.0	55.0	54.0		449	3.8	1.0	5		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZFP2	NM_030613.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	150/462	178358763	1,13005	2203	4300	6503	178291369	SO:0001583	missense	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.449G>T	5.37:g.178358763G>T	ENSP00000354453:p.Arg150Ile		178291369	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	15.72	2.915461	0.52546	0.0	1.16E-4	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.71	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35151	N	0.003406	T	0.50922	0.1644	M	0.80332	2.49	0.47183	D	0.99934	D	0.89917	1.0	D	0.85130	0.997	T	0.54964	-0.8214	10	0.56958	D	0.05	-15.0571	12.0605	0.53561	0.0:0.0:0.8266:0.1734	.	150	Q6ZN57	ZFP2_HUMAN	I	150	ENSP00000354453:R150I;ENSP00000430980:R150I;ENSP00000430531:R150I;ENSP00000438114:R150I	ENSP00000354453:R150I	R	+	2	0	ZFP2	178291369	0.080000	0.21391	1.000000	0.80357	0.837000	0.47467	2.428000	0.44749	1.176000	0.42840	0.591000	0.81541	AGA		0.413	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
MAML1	9794	broad.mit.edu	37	5	179200942	179200942	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:179200942C>A	ENST00000292599.3	+	5	2378	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.N705K(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCATCCAACTCCAGCTGTC	0.587																																					p.N705K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2115A	5						.						130.0	130.0	130.0					5																	179200942		2203	4300	6503	179133548	SO:0001583	missense	9794	exon5			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2115C>A	5.37:g.179200942C>A	ENSP00000292599:p.Asn705Lys		179133548	NM_014757		Missense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678457	0.29783	.	.	ENSG00000161021	ENST00000292599	T	0.46063	0.88	5.1	2.32	0.28847	.	0.726025	0.13623	N	0.374307	T	0.26557	0.0649	L	0.47716	1.5	0.09310	N	1	P	0.44627	0.839	B	0.30646	0.118	T	0.12915	-1.0529	10	0.09843	T	0.71	-5.4108	10.6052	0.45390	0.0:0.7859:0.0:0.2141	.	705	Q92585	MAML1_HUMAN	K	705	ENSP00000292599:N705K	ENSP00000292599:N705K	N	+	3	2	MAML1	179133548	0.864000	0.29904	0.004000	0.12327	0.932000	0.56968	1.230000	0.32612	0.174000	0.19809	0.462000	0.41574	AAC		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
PLEKHG4B	153478	broad.mit.edu	37	5	155502	155502	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:155502T>G	ENST00000283426.6	+	7	1134	c.1084T>G	c.(1084-1086)Ttc>Gtc	p.F362V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	362							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F362V(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCCATCATTTTCCTACAGAA	0.453																																					p.F362V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1084G	5						.						97.0	94.0	95.0					5																	155502		2203	4300	6503	208502	SO:0001583	missense	153478	exon7			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1084T>G	5.37:g.155502T>G	ENSP00000283426:p.Phe362Val		208502	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	11.32	1.604578	0.28623	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.28666	1.6;3.06	3.65	3.65	0.41850	.	.	.	.	.	T	0.36026	0.0952	M	0.71581	2.175	0.26784	N	0.969539	P	0.48764	0.915	P	0.47528	0.549	T	0.14144	-1.0483	9	0.18710	T	0.47	.	8.7019	0.34332	0.0:0.0:0.0:1.0	.	362	Q96PX9	PKH4B_HUMAN	V	362;276	ENSP00000283426:F362V;ENSP00000422493:F276V	ENSP00000283426:F362V	F	+	1	0	PLEKHG4B	208502	0.981000	0.34729	0.040000	0.18447	0.010000	0.07245	2.035000	0.41155	1.291000	0.44653	0.383000	0.25322	TTC		0.453	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
PLEKHG4B	153478	broad.mit.edu	37	5	173017	173017	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:173017T>G	ENST00000283426.6	+	15	3038	c.2988T>G	c.(2986-2988)aaT>aaG	p.N996K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	996	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N996K(1)|p.N187K(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGCAGGTGAATTTGAAGGAAC	0.502																																					p.N996K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2988G	5						.						93.0	91.0	91.0					5																	173017		2203	4300	6503	226017	SO:0001583	missense	153478	exon15			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2988T>G	5.37:g.173017T>G	ENSP00000283426:p.Asn996Lys		226017	NM_052909		Missense_Mutation	SNP	ENST00000283426.6	37	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816423	0.32145	.	.	ENSG00000153404	ENST00000283426	T	0.12147	2.71	3.1	-2.94	0.05581	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	.	.	.	.	T	0.38054	0.1026	M	0.92691	3.335	0.31836	N	0.624053	D	0.76494	0.999	D	0.68765	0.96	T	0.41592	-0.9500	9	0.48119	T	0.1	.	8.439	0.32803	0.0:0.5305:0.0:0.4695	.	996	Q96PX9	PKH4B_HUMAN	K	996	ENSP00000283426:N996K	ENSP00000283426:N996K	N	+	3	2	PLEKHG4B	226017	0.947000	0.32204	0.400000	0.26346	0.208000	0.24298	0.143000	0.16115	-0.724000	0.04908	0.383000	0.25322	AAT		0.502	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
FASTKD3	79072	broad.mit.edu	37	5	7866830	7866830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:7866830G>T	ENST00000264669.5	-	2	1503	c.1367C>A	c.(1366-1368)tCa>tAa	p.S456*	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	456					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.S456L(1)|p.S456*(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						TTCATTAAGTGAACATGAATG	0.368																																					p.S456X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.C1367A	5						.						63.0	64.0	64.0					5																	7866830		2203	4300	6503	7919830	SO:0001587	stop_gained	79072	exon2			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.1367C>A	5.37:g.7866830G>T	ENSP00000264669:p.Ser456*		7919830	NM_024091	Q9BVD3	Nonsense_Mutation	SNP	ENST00000264669.5	37	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805369	0.90623	.	.	ENSG00000124279	ENST00000264669	.	.	.	4.95	4.05	0.47172	.	0.424965	0.24813	N	0.035388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-6.8164	7.5157	0.27600	0.2839:0.0:0.7161:0.0	.	.	.	.	X	456	.	ENSP00000264669:S456X	S	-	2	0	FASTKD3	7919830	0.995000	0.38212	0.183000	0.23137	0.428000	0.31595	2.314000	0.43743	1.226000	0.43582	0.655000	0.94253	TCA		0.368	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
MTRR	4552	broad.mit.edu	37	5	7878150	7878150	+	Silent	SNP	C	C	T	rs139333376	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:7878150C>T	ENST00000264668.2	+	5	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Silent_p.G165G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	192					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.G192G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507																																					p.G165G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C495T	5						.	C	,	2,4404	4.2+/-10.8	0,2,2201	61.0	59.0	60.0		495,576	-7.5	0.0	5	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MTRR	NM_002454.2,NM_024010.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	165/699,192/726	7878150	2,13004	2203	4300	6503	7931150	SO:0001819	synonymous_variant	4552	exon5			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.576C>T	5.37:g.7878150C>T			7931150	NM_002454	O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313586	0.10789	4.54E-4	0.0	ENSG00000124275	ENST00000514220	.	.	.	5.91	-7.48	0.01360	.	.	.	.	.	T	0.19366	0.0465	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	-4.6769	5.8633	0.18760	0.2316:0.516:0.1298:0.1225	.	.	.	.	C	94	.	.	R	+	1	0	MTRR	7931150	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.316000	0.01123	-0.813000	0.04357	-0.266000	0.10368	CGC		0.507	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1		
TAS2R1	50834	broad.mit.edu	37	5	9629596	9629596	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	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		
CDH12	1010	broad.mit.edu	37	5	21760696	21760696	+	Missense_Mutation	SNP	T	T	G	rs533294662		TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:21760696T>G	ENST00000382254.1	-	13	2690	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.K535T|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.K495T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	535	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K535T(1)|p.K535I(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						AAAATTTGGTTTGATAGCAGC	0.388										HNSCC(59;0.17)																											p.K535T												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A1604C	5						.						133.0	140.0	138.0					5																	21760696		2203	4300	6503	21796453	SO:0001583	missense	1010	exon13			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.1604A>C	5.37:g.21760696T>G	ENSP00000371689:p.Lys535Thr		21796453	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003908	0.54254	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52754	0.65;0.65;0.65	5.19	4.03	0.46877	Cadherin (4);Cadherin-like (1);	0.090340	0.85682	D	0.000000	T	0.28764	0.0713	N	0.20574	0.59	0.47341	D	0.999399	B;P	0.37914	0.005;0.611	B;B	0.29077	0.021;0.098	T	0.11591	-1.0581	10	0.62326	D	0.03	.	10.8601	0.46821	0.0:0.074:0.0:0.926	.	495;535	B7Z2U6;P55289	.;CAD12_HUMAN	T	535;535;495	ENSP00000423577:K535T;ENSP00000371689:K535T;ENSP00000428786:K495T	ENSP00000371689:K535T	K	-	2	0	CDH12	21796453	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.555000	0.45854	0.928000	0.37168	0.528000	0.53228	AAA		0.388	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
PRDM9	56979	broad.mit.edu	37	5	23523417	23523417	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:23523417C>A	ENST00000296682.3	+	9	1082	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	300	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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.N300K(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						AGGGGAGAAACTGCTATGAGT	0.428										HNSCC(3;0.000094)																											p.N300K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C900A	5						.						133.0	128.0	130.0					5																	23523417		2203	4300	6503	23559174	SO:0001583	missense	56979	exon9			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.900C>A	5.37:g.23523417C>A	ENSP00000296682:p.Asn300Lys		23559174	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.850489	0.32699	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.72282	-0.64	3.72	2.83	0.33086	SET domain (2);	0.379291	0.19289	N	0.117958	T	0.51415	0.1673	L	0.31526	0.94	0.35004	D	0.756246	B	0.30584	0.286	B	0.19148	0.024	T	0.55360	-0.8153	10	0.31617	T	0.26	-29.9332	7.7661	0.28980	0.0:0.8715:0.0:0.1285	.	300	Q9NQV7	PRDM9_HUMAN	K	300;94	ENSP00000296682:N300K	ENSP00000253473:N94K	N	+	3	2	PRDM9	23559174	0.845000	0.29573	1.000000	0.80357	0.991000	0.79684	0.484000	0.22308	0.831000	0.34780	0.592000	0.82586	AAC		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23524503	23524503	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:23524503G>A	ENST00000296682.3	+	10	1193	c.1011G>A	c.(1009-1011)agG>agA	p.R337R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	337	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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.R337R(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						AGTACCACAGGCAGATCTTCT	0.547										HNSCC(3;0.000094)																											p.R337R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1011A	5						.						67.0	69.0	68.0					5																	23524503		1895	4105	6000	23560260	SO:0001819	synonymous_variant	56979	exon10			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.1011G>A	5.37:g.23524503G>A			23560260	NM_020227	B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	CCDS43307.1																																																																																				0.547	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDM9	56979	broad.mit.edu	37	5	23526584	23526584	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:23526584T>G	ENST00000296682.3	+	11	1569	c.1387T>G	c.(1387-1389)Ttg>Gtg	p.L463V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	463					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.L463V(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						GTCCAAACTCTTGAATAAAAG	0.463										HNSCC(3;0.000094)																											p.L463V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1387G	5						.						39.0	41.0	40.0					5																	23526584		2200	4297	6497	23562341	SO:0001583	missense	56979	exon11			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.1387T>G	5.37:g.23526584T>G	ENSP00000296682:p.Leu463Val		23562341	NM_020227	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	T	5.701	0.313898	0.10789	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08896	3.04	2.43	-4.86	0.03132	.	1.488970	0.04762	N	0.426383	T	0.06872	0.0175	L	0.47716	1.5	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.34079	-0.9843	10	0.23891	T	0.37	4.8536	4.111	0.10058	0.4161:0.0:0.2964:0.2875	.	463	Q9NQV7	PRDM9_HUMAN	V	463;257	ENSP00000296682:L463V	ENSP00000253473:L257V	L	+	1	2	PRDM9	23562341	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.360000	0.20250	-1.799000	0.01248	-0.626000	0.03995	TTG		0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH9	1007	broad.mit.edu	37	5	26890660	26890660	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:26890660G>A	ENST00000231021.4	-	8	1439	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	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.R423W(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						TCAGTATGCCGATCAACAGAG	0.383																																					p.R423W	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1267T	5						.						82.0	84.0	83.0					5																	26890660		2203	4300	6503	26926417	SO:0001583	missense	1007	exon8			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.1267C>T	5.37:g.26890660G>A	ENSP00000231021:p.Arg423Trp		26926417	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239870	0.79912	.	.	ENSG00000113100	ENST00000231021	T	0.53423	0.62	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.066379	0.64402	D	0.000007	T	0.53174	0.1780	M	0.79693	2.465	0.80722	D	1	B;B	0.25772	0.061;0.134	B;B	0.27380	0.025;0.079	T	0.53258	-0.8464	9	.	.	.	.	17.0519	0.86521	0.0:0.0:1.0:0.0	.	16;423	B4DFP0;Q9ULB4	.;CADH9_HUMAN	W	423	ENSP00000231021:R423W	.	R	-	1	2	CDH9	26926417	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.591000	0.67536	2.385000	0.81259	0.453000	0.30009	CGG		0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
CDH9	1007	broad.mit.edu	37	5	26915805	26915805	+	Silent	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:26915805G>T	ENST00000231021.4	-	3	628	c.456C>A	c.(454-456)atC>atA	p.I152I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	152	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I152I(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						CATTGTCATTGATATCATGTA	0.373																																					p.I152I	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456A	5						.						97.0	96.0	96.0					5																	26915805		2203	4300	6503	26951562	SO:0001819	synonymous_variant	1007	exon3			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.456C>A	5.37:g.26915805G>T			26951562	NM_016279	Q3B7I5	Silent	SNP	ENST00000231021.4	37	CCDS3893.1																																																																																				0.373	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
DROSHA	29102	broad.mit.edu	37	5	31486628	31486628	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:31486628C>T	ENST00000511367.2	-	13	2128	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	DROSHA_ENST00000513349.1_Silent_p.T591T|DROSHA_ENST00000344624.3_Silent_p.T628T|DROSHA_ENST00000442743.1_Silent_p.T591T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	628	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.T628T(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGAAATGAATCGTGTAGTCTA	0.378																																					p.T628T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1884A	5						.						129.0	131.0	131.0					5																	31486628		1940	4150	6090	31522385	SO:0001819	synonymous_variant	29102	exon13			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1884G>A	5.37:g.31486628C>T			31522385	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	ENST00000511367.2	37	CCDS47195.1																																																																																				0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	32091233	32091233	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:32091233C>T	ENST00000438447.1	+	20	8067	c.7679C>T	c.(7678-7680)aCg>aTg	p.T2560M	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2560M			O15018	PDZD2_HUMAN	PDZ domain containing 2	2560					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.T2560M(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAGTGATACGGGTGAAGCT	0.502																																					p.T2560M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7679T	5						.						48.0	51.0	50.0					5																	32091233		2203	4300	6503	32126990	SO:0001583	missense	23037	exon19			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7679C>T	5.37:g.32091233C>T	ENSP00000402033:p.Thr2560Met		32126990	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863829	0.17250	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06849	3.25;3.25	4.76	-9.51	0.00581	.	3.139240	0.00932	N	0.002734	T	0.02418	0.0074	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	10	0.33940	T	0.23	.	2.0967	0.03669	0.3407:0.3739:0.1338:0.1516	.	2560	O15018	PDZD2_HUMAN	M	2560;2361;2560	ENSP00000402033:T2560M;ENSP00000282493:T2560M	ENSP00000282493:T2560M	T	+	2	0	PDZD2	32126990	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.245000	0.08890	-2.337000	0.00628	-1.434000	0.01081	ACG		0.502	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
MTMR12	54545	broad.mit.edu	37	5	32233914	32233914	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:32233914G>T	ENST00000382142.3	-	15	1809	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M	RNU6-1079P_ENST00000362861.1_RNA|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Intron|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	547	Interaction with MTM1.|Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L547M(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						CCTTTGTCCAGTTTTGGCTTT	0.483																																					p.L547M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1639A	5						.						219.0	182.0	194.0					5																	32233914		2203	4300	6503	32269671	SO:0001583	missense	54545	exon15			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.1639C>A	5.37:g.32233914G>T	ENSP00000371577:p.Leu547Met		32269671	NM_001040446	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764182	0.49574	.	.	ENSG00000150712	ENST00000382142	D	0.94497	-3.44	5.77	3.01	0.34805	Myotubularin phosphatase domain (1);	4.564580	0.00357	N	0.000028	D	0.91835	0.7416	L	0.44542	1.39	0.80722	D	1	B	0.34103	0.437	B	0.31495	0.131	T	0.78280	-0.2265	10	0.34782	T	0.22	.	8.8409	0.35142	0.135:0.125:0.74:0.0	.	547	Q9C0I1	MTMRC_HUMAN	M	547	ENSP00000371577:L547M	ENSP00000371577:L547M	L	-	1	2	MTMR12	32269671	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.256000	0.51492	0.778000	0.33520	0.655000	0.94253	CTG		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	
ZFR	51663	broad.mit.edu	37	5	32395407	32395407	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:32395407T>G	ENST00000265069.8	-	11	1939	c.1837A>C	c.(1837-1839)Aaa>Caa	p.K613Q	MIR579_ENST00000385221.1_RNA	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	613					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K613Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGATTTACTTTTTTCTATTAA	0.318																																					p.K613Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1837C	5						.						50.0	47.0	48.0					5																	32395407		2202	4300	6502	32431164	SO:0001583	missense	51663	exon11			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1837A>C	5.37:g.32395407T>G	ENSP00000265069:p.Lys613Gln		32431164	NM_016107	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144302	0.77888	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.43294	0.95	5.96	5.96	0.96718	Zinc finger, U1-type (1);	0.087907	0.85682	D	0.000000	T	0.68320	0.2988	M	0.82823	2.61	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.73338	-0.4014	10	0.87932	D	0	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	613	Q96KR1	ZFR_HUMAN	Q	613;591	ENSP00000265069:K613Q	ENSP00000265069:K613Q	K	-	1	0	ZFR	32431164	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.841000	0.86834	2.279000	0.76181	0.533000	0.62120	AAA		0.318	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1		
TARS	6897	broad.mit.edu	37	5	33457480	33457480	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:33457480A>C	ENST00000265112.3	+	9	1267	c.956A>C	c.(955-957)aAa>aCa	p.K319T	TARS_ENST00000414361.2_Missense_Mutation_p.K198T|TARS_ENST00000541634.1_Missense_Mutation_p.K215T|TARS_ENST00000455217.2_Missense_Mutation_p.K352T|TARS_ENST00000502553.1_Missense_Mutation_p.K319T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	319					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.K319T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GAGGAAGCTAAAAACCGAGAT	0.393																																					p.K319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A956C	5						.						113.0	118.0	117.0					5																	33457480		2203	4300	6503	33493237	SO:0001583	missense	6897	exon9			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.956A>C	5.37:g.33457480A>C	ENSP00000265112:p.Lys319Thr		33493237	NM_152295	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510702	0.64522	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.50277	0.76;0.76;0.75	5.7	5.7	0.88788	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	M	0.78223	2.4	0.80722	D	1	B;P;P;P	0.45672	0.172;0.864;0.855;0.864	B;P;P;P	0.47299	0.091;0.52;0.543;0.52	T	0.63400	-0.6646	10	0.51188	T	0.08	-0.2451	16.0011	0.80292	1.0:0.0:0.0:0.0	.	198;352;215;319	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	T	319;319;215;352;198	ENSP00000424387:K319T;ENSP00000265112:K319T;ENSP00000387710:K352T	ENSP00000265112:K319T	K	+	2	0	TARS	33493237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.812000	0.55628	2.183000	0.69458	0.529000	0.55759	AAA		0.393	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
ADAMTS12	81792	broad.mit.edu	37	5	33549454	33549454	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:33549454C>T	ENST00000504830.1	-	21	4495	c.4160G>A	c.(4159-4161)cGc>cAc	p.R1387H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1302H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1387	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1387H(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						CTGAATCTCGCGTATCTTGAA	0.557										HNSCC(64;0.19)																											p.R1387H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4160A	5						.						86.0	96.0	92.0					5																	33549454		2203	4300	6503	33585211	SO:0001583	missense	81792	exon21			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4160G>A	5.37:g.33549454C>T	ENSP00000422554:p.Arg1387His		33585211	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812782	0.90707	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.78707	-1.2;-1.2	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.94149	0.7404	10	0.87932	D	0	.	15.5546	0.76184	0.0:1.0:0.0:0.0	.	1302;1387	P58397-3;P58397	.;ATS12_HUMAN	H	1387;1302	ENSP00000422554:R1387H;ENSP00000344847:R1302H	ENSP00000344847:R1302H	R	-	2	0	ADAMTS12	33585211	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	5.549000	0.67261	2.398000	0.81561	0.650000	0.86243	CGC		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33577232	33577232	+	Missense_Mutation	SNP	G	G	A	rs375366015		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:33577232G>A	ENST00000504830.1	-	19	3234	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R882C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	967	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R967C(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						GTGACACTGCGAATCCGCACT	0.502										HNSCC(64;0.19)																											p.R967C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2899T	5						.	G	CYS/ARG	0,4406		0,0,2203	98.0	94.0	95.0		2899	5.3	1.0	5		95	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADAMTS12	NM_030955.2	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	967/1595	33577232	2,13004	2203	4300	6503	33612989	SO:0001583	missense	81792	exon19			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2899C>T	5.37:g.33577232G>A	ENSP00000422554:p.Arg967Cys		33612989	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700125	0.88924	0.0	2.33E-4	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.80909	-1.43;-1.43	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.94650	0.8275	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96677	0.9501	10	0.87932	D	0	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	882;967	P58397-3;P58397	.;ATS12_HUMAN	C	967;882	ENSP00000422554:R967C;ENSP00000344847:R882C	ENSP00000344847:R882C	R	-	1	0	ADAMTS12	33612989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.861000	0.69553	2.756000	0.94617	0.655000	0.94253	CGC		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
SPEF2	79925	broad.mit.edu	37	5	35759770	35759770	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:35759770G>A	ENST00000356031.3	+	25	3723	c.3569G>A	c.(3568-3570)cGa>cAa	p.R1190Q	SPEF2_ENST00000440995.2_Missense_Mutation_p.R1185Q|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1190					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.R1190Q(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)			AGATTTACTCGAATCCCTTTG	0.393																																					p.R1190Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3569A	5						.						116.0	113.0	114.0					5																	35759770		1840	4081	5921	35795527	SO:0001583	missense	79925	exon25			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.3569G>A	5.37:g.35759770G>A	ENSP00000348314:p.Arg1190Gln		35795527	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.745693	0.49151	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.32988	1.43;1.43	5.45	4.59	0.56863	.	0.270973	0.36555	N	0.002531	T	0.54303	0.1850	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.55617	-0.8113	10	0.41790	T	0.15	.	13.7356	0.62815	0.0755:0.0:0.9245:0.0	.	1185;1190	Q9C093-2;Q9C093	.;SPEF2_HUMAN	Q	1190;1185	ENSP00000348314:R1190Q;ENSP00000412125:R1185Q	ENSP00000348314:R1190Q	R	+	2	0	SPEF2	35795527	0.945000	0.32115	0.073000	0.20177	0.143000	0.21401	3.605000	0.54088	1.452000	0.47756	-0.119000	0.15052	CGA		0.393	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
SKP2	6502	broad.mit.edu	37	5	36168445	36168445	+	Silent	SNP	G	G	A	rs137857862		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:36168445G>A	ENST00000274255.6	+	5	763	c.567G>A	c.(565-567)tcG>tcA	p.S189S	SKP2_ENST00000508514.1_Intron|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000274254.5_Silent_p.S189S	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.S189S(1)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGACCTATCGAACTCAGTTA	0.502																																					p.S189S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G567A	5						.	G	,	0,4406		0,0,2203	253.0	260.0	257.0		567,567	-9.6	0.3	5	dbSNP_134	257	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SKP2	NM_005983.3,NM_032637.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	189/425,189/411	36168445	2,13004	2203	4300	6503	36204202	SO:0001819	synonymous_variant	6502	exon5			U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.567G>A	5.37:g.36168445G>A			36204202	NM_032637	A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	CCDS3916.1																																																																																				0.502	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983	
NIPBL	25836	broad.mit.edu	37	5	36985162	36985162	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:36985162A>C	ENST00000282516.8	+	10	2379	c.1880A>C	c.(1879-1881)gAa>gCa	p.E627A	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.E627A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	627					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.E627A(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)			AAACCAAATGAAAACCGATTG	0.348																																					p.E627A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1880C	5						.						65.0	68.0	67.0					5																	36985162		2197	4298	6495	37020919	SO:0001583	missense	25836	exon10			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.1880A>C	5.37:g.36985162A>C	ENSP00000282516:p.Glu627Ala		37020919	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415554	0.25552	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94723	-3.5;-3.5	5.98	5.98	0.97165	.	0.053505	0.85682	D	0.000000	D	0.90525	0.7031	N	0.24115	0.695	0.41168	D	0.986144	P;P	0.37955	0.478;0.612	B;B	0.37692	0.079;0.256	D	0.90882	0.4754	10	0.48119	T	0.1	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	627;627	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	627	ENSP00000282516:E627A;ENSP00000406266:E627A	ENSP00000282516:E627A	E	+	2	0	NIPBL	37020919	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.829000	0.55760	2.288000	0.76882	0.528000	0.53228	GAA		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37183288	37183288	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:37183288C>T	ENST00000508244.1	-	25	5088	c.4995G>A	c.(4993-4995)tcG>tcA	p.S1665S	C5orf42_ENST00000274258.7_Silent_p.S546S|C5orf42_ENST00000425232.2_Silent_p.S1665S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1665						integral component of membrane (GO:0016021)		p.S546S(1)|p.S1665S(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)			TGACTTCATTCGAAGGATATT	0.318																																					p.S1665S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4995A	5						.						76.0	73.0	74.0					5																	37183288		2203	4300	6503	37219045	SO:0001819	synonymous_variant	65250	exon26				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.4995G>A	5.37:g.37183288C>T			37219045	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	
LIFR	3977	broad.mit.edu	37	5	38482264	38482264	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:38482264C>T	ENST00000263409.4	-	20	2889	c.2727G>A	c.(2725-2727)gaG>gaA	p.E909E	LIFR_ENST00000453190.2_Silent_p.E909E	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	909					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.E909E(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTCCAGAACCTCAACATTAT	0.373			T	PLAG1	salivary adenoma																																p.E909E	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2727A	5						.						62.0	64.0	63.0					5																	38482264		2203	4300	6503	38518021	SO:0001819	synonymous_variant	3977	exon20			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.2727G>A	5.37:g.38482264C>T			38518021	NM_001127671	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				0.373	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
FYB	2533	broad.mit.edu	37	5	39135054	39135054	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:39135054C>A	ENST00000351578.6	-	8	1768	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	FYB_ENST00000515010.1_Missense_Mutation_p.K526N|FYB_ENST00000512982.1_Missense_Mutation_p.K526N|FYB_ENST00000540520.1_Missense_Mutation_p.K536N|FYB_ENST00000505428.1_Missense_Mutation_p.K526N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	526	SH3.				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.K526N(2)		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)			TCAGTTCATTCTTTCCTCCTT	0.418																																					p.K526N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1578T	5						.						195.0	176.0	182.0					5																	39135054		1866	4122	5988	39170811	SO:0001583	missense	2533	exon8			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.1578G>T	5.37:g.39135054C>A	ENSP00000316460:p.Lys526Asn		39170811	NM_199335	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844237	0.71488	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.67	4.8	0.61643	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.69823	2.125	0.44789	D	0.99779	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.02144	-1.1206	10	0.72032	D	0.01	-18.2515	10.682	0.45819	0.0:0.8544:0.0:0.1456	.	536;526	B4DLN2;O15117	.;FYB_HUMAN	N	526;526;526;526;536;526	ENSP00000316460:K526N;ENSP00000426346:K526N;ENSP00000425845:K526N;ENSP00000427114:K526N;ENSP00000442840:K536N	ENSP00000316460:K526N	K	-	3	2	FYB	39170811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.656000	0.37355	1.371000	0.46172	0.655000	0.94253	AAG		0.418	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
C9	735	broad.mit.edu	37	5	39311474	39311474	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:39311474T>G	ENST00000263408.4	-	7	971	c.876A>C	c.(874-876)aaA>aaC	p.K292N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	292	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.K292N(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)			GCAGAAACATTTTTTCCTGTG	0.333																																					p.K292N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A876C	5						.						83.0	78.0	80.0					5																	39311474		2203	4299	6502	39347231	SO:0001583	missense	735	exon7				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.876A>C	5.37:g.39311474T>G	ENSP00000263408:p.Lys292Asn		39347231	NM_001737		Missense_Mutation	SNP	ENST00000263408.4	37	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123049	0.37436	.	.	ENSG00000113600	ENST00000263408	D	0.84146	-1.81	5.48	3.14	0.36123	Membrane attack complex component/perforin (MACPF) domain (2);	0.245700	0.41396	D	0.000884	D	0.89986	0.6874	M	0.76838	2.35	0.47123	D	0.999327	D	0.76494	0.999	D	0.77557	0.99	D	0.87301	0.2305	10	0.30854	T	0.27	-43.5786	8.5747	0.33592	0.0:0.1613:0.0:0.8387	.	292	P02748	CO9_HUMAN	N	292	ENSP00000263408:K292N	ENSP00000263408:K292N	K	-	3	2	C9	39347231	0.658000	0.27402	0.557000	0.28306	0.048000	0.14542	0.937000	0.28951	0.929000	0.37192	0.460000	0.39030	AAA		0.333	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		
C7	730	broad.mit.edu	37	5	40936571	40936571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:40936571G>T	ENST00000313164.9	+	5	771	c.412G>T	c.(412-414)Gaa>Taa	p.E138*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	138	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.E138*(1)					Ovarian(839;0.0112)				TCCTAACATAGAACTTACTGG	0.408																																					p.E138X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G412T	5						.						83.0	80.0	81.0					5																	40936571		1923	4143	6066	40972328	SO:0001587	stop_gained	730	exon5			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.412G>T	5.37:g.40936571G>T	ENSP00000322061:p.Glu138*		40972328	NM_000587	Q6P3T5|Q92489	Nonsense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	39	7.881835	0.98542	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	.	.	.	5.02	5.02	0.67125	.	0.102645	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-31.9172	18.483	0.90819	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000322061:E138X	E	+	1	0	C7	40972328	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.975000	0.76128	2.779000	0.95612	0.491000	0.48974	GAA		0.408	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
C6	729	broad.mit.edu	37	5	41176584	41176584	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:41176584C>A	ENST00000263413.3	-	8	1425	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	C6_ENST00000337836.5_Missense_Mutation_p.K387N|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	387	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K387N(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)				TACCTGAGTTCTTTAGTTCCT	0.398																																					p.K387N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1161T	5						.						70.0	67.0	68.0					5																	41176584		2203	4300	6503	41212341	SO:0001583	missense	729	exon8			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1161G>T	5.37:g.41176584C>A	ENSP00000263413:p.Lys387Asn		41212341	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561718	0.27915	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.85339	-1.97;-1.97	5.21	4.34	0.51931	Membrane attack complex component/perforin (MACPF) domain (3);	0.643479	0.16795	N	0.199203	D	0.82884	0.5134	L	0.45581	1.43	0.41765	D	0.989731	B	0.28820	0.224	B	0.39503	0.301	T	0.80193	-0.1484	10	0.46703	T	0.11	-8.1545	8.6354	0.33945	0.0:0.7718:0.0:0.2282	.	387	P13671	CO6_HUMAN	N	387	ENSP00000338861:K387N;ENSP00000263413:K387N	ENSP00000263413:K387N	K	-	3	2	C6	41212341	0.933000	0.31639	0.934000	0.37439	0.630000	0.37929	0.098000	0.15189	1.427000	0.47276	0.591000	0.81541	AAG		0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
HCN1	348980	broad.mit.edu	37	5	45303768	45303768	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:45303768G>A	ENST00000303230.4	-	6	1608	c.1551C>T	c.(1549-1551)caC>caT	p.H517H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	517					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.H517H(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						CAGCAACACCGTGTTGAATGA	0.388																																					p.H517H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1551T	5						.						105.0	102.0	103.0					5																	45303768		2203	4300	6503	45339525	SO:0001819	synonymous_variant	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.1551C>T	5.37:g.45303768G>A			45339525	NM_021072		Silent	SNP	ENST00000303230.4	37	CCDS3952.1																																																																																				0.388	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
IL6ST	3572	broad.mit.edu	37	5	55237006	55237006	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:55237006T>G	ENST00000381298.2	-	17	2973	c.2661A>C	c.(2659-2661)agA>agC	p.R887S	IL6ST_ENST00000381294.3_Missense_Mutation_p.R826S|IL6ST_ENST00000536319.1_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000502326.3_Missense_Mutation_p.R887S|IL6ST_ENST00000336909.5_Missense_Mutation_p.R887S|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	887					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.R887S(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CTGTTTCAAATCTTTCTACTT	0.458			O		hepatocellular ca																																p.R826S			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2478C	5						.						115.0	102.0	106.0					5																	55237006		2203	4300	6503	55272763	SO:0001583	missense	3572	exon16			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2661A>C	5.37:g.55237006T>G	ENSP00000370698:p.Arg887Ser		55272763	NM_001190981	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281865	0.10458	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.38560	1.39;1.39;1.13	5.73	-1.47	0.08772	.	0.853808	0.11173	N	0.591825	T	0.23965	0.0580	L	0.48362	1.52	0.09310	N	0.999999	B;P;B	0.36616	0.046;0.561;0.046	B;B;B	0.24394	0.012;0.053;0.012	T	0.15694	-1.0428	10	0.45353	T	0.12	.	1.9154	0.03296	0.1373:0.2587:0.1106:0.4934	.	887;826;887	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	S	887;887;826	ENSP00000370698:R887S;ENSP00000338799:R887S;ENSP00000370694:R826S	ENSP00000338799:R887S	R	-	3	2	IL6ST	55272763	0.000000	0.05858	0.401000	0.26359	0.032000	0.12392	-0.449000	0.06812	0.100000	0.17581	-0.379000	0.06801	AGA		0.458	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184	
ANKRD55	79722	broad.mit.edu	37	5	55407329	55407329	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:55407329A>G	ENST00000341048.4	-	10	1397	c.1246T>C	c.(1246-1248)Tat>Cat	p.Y416H	ANKRD55_ENST00000505970.2_5'Flank|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Y128H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.Y373H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	416								p.Y416H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGTAAGAGATATTTTGAATTG	0.483																																					p.Y416H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1246C	5						.						123.0	125.0	124.0					5																	55407329		2203	4300	6503	55443086	SO:0001583	missense	79722	exon10			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1246T>C	5.37:g.55407329A>G	ENSP00000342295:p.Tyr416His		55443086	NM_024669	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	13.81	2.348399	0.41599	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.54675	0.9;0.56;0.99	5.59	4.43	0.53597	.	0.160108	0.42682	N	0.000669	T	0.40546	0.1121	L	0.32530	0.975	0.38854	D	0.956337	B;P	0.42409	0.355;0.779	B;B	0.37480	0.057;0.251	T	0.43702	-0.9375	10	0.59425	D	0.04	.	11.7264	0.51712	0.9307:0.0:0.0693:0.0	.	416;415	B3KVT8;Q3KP44	.;ANR55_HUMAN	H	416;416;373;128	ENSP00000342295:Y416H;ENSP00000424230:Y373H;ENSP00000429421:Y128H	ENSP00000342295:Y416H	Y	-	1	0	ANKRD55	55443086	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	5.405000	0.66351	1.069000	0.40788	0.529000	0.55759	TAT		0.483	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669	
HTR1A	3350	broad.mit.edu	37	5	63256554	63256554	+	Silent	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:63256554C>T	ENST00000323865.3	-	1	1226	c.993G>A	c.(991-993)gcG>gcA	p.A331A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	331					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)			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)	TCTTGCGCTTCGCCTCGGCGT	0.607																																					p.A331A												.	.	0			c.G993A	5						.						86.0	89.0	88.0					5																	63256554		2203	4300	6503	63292310	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.993G>A	5.37:g.63256554C>T			63292310	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
HTR1A	3350	broad.mit.edu	37	5	63256907	63256907	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:63256907G>T	ENST00000323865.3	-	1	873	c.640C>A	c.(640-642)Ctc>Atc	p.L214I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	214					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.L214I(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)	CGCCCATAGAGAACCAGCATG	0.582																																					p.L214I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C640A	5						.						99.0	111.0	107.0					5																	63256907		2203	4300	6503	63292663	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.640C>A	5.37:g.63256907G>T	ENSP00000316244:p.Leu214Ile		63292663	NM_000524	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336824	0.60963	.	.	ENSG00000178394	ENST00000323865	T	0.39787	1.06	5.7	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.52725	0.1752	L	0.56340	1.77	0.80722	D	1	D	0.58970	0.984	P	0.57152	0.814	T	0.49173	-0.8967	10	0.44086	T	0.13	.	14.0781	0.64903	0.0732:0.0:0.9268:0.0	.	214	P08908	5HT1A_HUMAN	I	214	ENSP00000316244:L214I	ENSP00000316244:L214I	L	-	1	0	HTR1A	63292663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.831000	0.62752	2.692000	0.91855	0.655000	0.94253	CTC		0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
SREK1IP1	285672	broad.mit.edu	37	5	64036933	64036933	+	Silent	SNP	G	G	A	rs542515899		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:64036933G>A	ENST00000513458.4	-	3	323	c.156C>T	c.(154-156)agC>agT	p.S52S	SREK1IP1_ENST00000506252.1_5'Flank	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S52S(1)		breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TCTCTTCATCGCTATCTTCAC	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17963	0.0		0.0	False		,,,				2504	0.0				p.S52S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C156T	5						.						96.0	89.0	91.0					5																	64036933		2203	4299	6502	64072689	SO:0001819	synonymous_variant	285672	exon3			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.156C>T	5.37:g.64036933G>A			64072689	NM_173829	Q32NC8	Silent	SNP	ENST00000513458.4	37	CCDS34171.1																																																																																				0.363	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829	
ERBB2IP	55914	broad.mit.edu	37	5	65346632	65346632	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:65346632C>A	ENST00000284037.5	+	20	2314	c.1925C>A	c.(1924-1926)tCt>tAt	p.S642Y	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.S642Y|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.S638Y	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	642					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.S642C(1)|p.S642Y(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)		GAAACAGATTCTTTATCAGAT	0.318																																					p.S642Y												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1925A	5						.						86.0	88.0	87.0					5																	65346632		2202	4300	6502	65382388	SO:0001583	missense	55914	exon20				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.1925C>A	5.37:g.65346632C>A	ENSP00000284037:p.Ser642Tyr		65382388	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467678	0.84533	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08;3.08	5.66	5.66	0.87406	.	0.052784	0.85682	D	0.000000	T	0.21103	0.0508	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.996;0.996;0.991;0.997	T	0.00724	-1.1593	10	0.51188	T	0.08	.	19.7415	0.96232	0.0:1.0:0.0:0.0	.	642;642;642;638;642;642;642	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	Y	642;642;642;642;642;642;638;642;642	ENSP00000284037:S642Y;ENSP00000370330:S642Y;ENSP00000370326:S642Y;ENSP00000370323:S642Y;ENSP00000370322:S642Y;ENSP00000370325:S642Y;ENSP00000422766:S638Y;ENSP00000426632:S642Y;ENSP00000422015:S642Y	ENSP00000284037:S642Y	S	+	2	0	ERBB2IP	65382388	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.463000	0.80869	2.668000	0.90789	0.561000	0.74099	TCT		0.318	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
PIK3R1	5295	broad.mit.edu	37	5	67588951	67588951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:67588951C>T	ENST00000521381.1	+	9	1658	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R348*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R48*|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R78*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	348	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.R348*(7)|p.R48*(1)|p.R78*(1)|p.0?(1)|p.?(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)	TGAAAAACTTCGAGATACAGC	0.353			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.R348X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	11	Substitution - Nonsense(9)|Whole gene deletion(1)|Unknown(1)	large_intestine(5)|endometrium(5)|lung(1)	c.C1042T	5						.						84.0	86.0	85.0					5																	67588951		2203	4300	6503	67624707	SO:0001587	stop_gained	5295	exon8			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.1042C>T	5.37:g.67588951C>T	ENSP00000428056:p.Arg348*		67624707	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.145650	0.97324	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084;ENST00000320694;ENST00000336483;ENST00000519025	.	.	.	5.02	5.02	0.67125	.	0.118259	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6425	18.8724	0.92320	0.0:1.0:0.0:0.0	.	.	.	.	X	348;348;348;348;78;78;48;78;21	.	ENSP00000274335:R348X	R	+	1	2	PIK3R1	67624707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.939000	0.48995	2.770000	0.95276	0.484000	0.47621	CGA		0.353	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PIK3R1	5295	broad.mit.edu	37	5	67589168	67589168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:67589168C>T	ENST00000521381.1	+	10	1772	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R386*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R386*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R386*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R86*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.R23*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R116*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	386	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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.R386*(1)|p.0?(1)|p.?(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)	AATATTTCATCGAGATGGGAA	0.303			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																											p.R386X			Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	.	.	3	Substitution - Nonsense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(2)|lung(1)	c.C1156T	5						.						54.0	61.0	59.0					5																	67589168		2199	4295	6494	67624924	SO:0001587	stop_gained	5295	exon9			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.1156C>T	5.37:g.67589168C>T	ENSP00000428056:p.Arg386*		67624924	NM_181523	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931983	0.97116	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7661	19.0433	0.93010	0.0:1.0:0.0:0.0	.	.	.	.	X	386;386;386;386;116;86;23;116;59;23	.	ENSP00000274335:R386X	R	+	1	2	PIK3R1	67624924	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.889000	0.69766	2.797000	0.96272	0.555000	0.69702	CGA		0.303	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
MAP1B	4131	broad.mit.edu	37	5	71490563	71490563	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71490563C>A	ENST00000296755.7	+	5	1679	c.1381C>A	c.(1381-1383)Ctc>Atc	p.L461I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	461					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.L461I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGAAGTAGATCTCCCGATTTC	0.453																																					p.L461I	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1381A	5						.						99.0	100.0	100.0					5																	71490563		2203	4300	6503	71526319	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.1381C>A	5.37:g.71490563C>A	ENSP00000296755:p.Leu461Ile		71526319	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.076552	0.00375	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03330	3.97;3.97;3.97	5.63	4.47	0.54385	.	0.097447	0.44688	N	0.000430	T	0.01800	0.0057	N	0.04355	-0.22	0.29394	N	0.862395	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40384	-0.9566	10	0.02654	T	1	-10.9902	11.8713	0.52520	0.6777:0.3223:0.0:0.0	.	335;461	A2BDK6;P46821	.;MAP1B_HUMAN	I	461;478;335	ENSP00000296755:L461I;ENSP00000423444:L478I;ENSP00000423416:L335I	ENSP00000296755:L461I	L	+	1	0	MAP1B	71526319	1.000000	0.71417	0.999000	0.59377	0.629000	0.37895	2.320000	0.43797	0.939000	0.37446	-0.309000	0.09137	CTC		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71491402	71491402	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71491402G>T	ENST00000296755.7	+	5	2518	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	740	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K740N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACGCAAAGAAATCATCTA	0.393																																					p.K740N	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2220T	5						.						61.0	65.0	64.0					5																	71491402		2203	4300	6503	71527158	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.2220G>T	5.37:g.71491402G>T	ENSP00000296755:p.Lys740Asn		71527158	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309582	0.10733	.	.	ENSG00000131711	ENST00000296755	T	0.23348	1.91	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000002	T	0.40171	0.1106	L	0.40543	1.245	0.48762	D	0.999704	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.02173	-1.1201	10	0.27785	T	0.31	-20.9645	19.2913	0.94100	0.0:0.0:1.0:0.0	.	614;740	A2BDK6;P46821	.;MAP1B_HUMAN	N	740	ENSP00000296755:K740N	ENSP00000296755:K740N	K	+	3	2	MAP1B	71527158	1.000000	0.71417	0.989000	0.46669	0.046000	0.14306	6.489000	0.73641	2.644000	0.89710	0.655000	0.94253	AAG		0.393	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71492742	71492742	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71492742C>A	ENST00000296755.7	+	5	3858	c.3560C>A	c.(3559-3561)tCt>tAt	p.S1187Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1187					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.S1187Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AACGGATTTTCTGAAGGATCA	0.418																																					p.S1187Y	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3560A	5						.						73.0	67.0	69.0					5																	71492742		2203	4300	6503	71528498	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.3560C>A	5.37:g.71492742C>A	ENSP00000296755:p.Ser1187Tyr		71528498	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285165	0.23478	.	.	ENSG00000131711	ENST00000296755	T	0.03772	3.81	5.26	5.26	0.73747	.	0.000000	0.56097	D	0.000025	T	0.12305	0.0299	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.64042	0.921;0.921	T	0.04537	-1.0944	10	0.52906	T	0.07	-14.7141	19.0668	0.93114	0.0:1.0:0.0:0.0	.	1061;1187	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1187	ENSP00000296755:S1187Y	ENSP00000296755:S1187Y	S	+	2	0	MAP1B	71528498	0.981000	0.34729	0.347000	0.25668	0.028000	0.11728	2.606000	0.46291	2.743000	0.94032	0.655000	0.94253	TCT		0.418	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71493290	71493290	+	Missense_Mutation	SNP	G	G	T	rs148650535		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71493290G>T	ENST00000296755.7	+	5	4406	c.4108G>T	c.(4108-4110)Gat>Tat	p.D1370Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1370					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.D1370Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGATGCCAAAGATGAGAATGA	0.468																																					p.D1370Y	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4108T	5						.						78.0	80.0	79.0					5																	71493290		2203	4300	6503	71529046	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.4108G>T	5.37:g.71493290G>T	ENSP00000296755:p.Asp1370Tyr		71529046	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220804	0.39201	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	T	0.04588	0.0125	N	0.24115	0.695	0.54753	D	0.999987	B;B	0.32829	0.386;0.386	B;B	0.31495	0.131;0.131	T	0.49409	-0.8943	10	0.87932	D	0	-22.9965	19.877	0.96880	0.0:0.0:1.0:0.0	.	1244;1370	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1370	ENSP00000296755:D1370Y	ENSP00000296755:D1370Y	D	+	1	0	MAP1B	71529046	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.539000	0.82063	2.709000	0.92574	0.561000	0.74099	GAT		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71494136	71494136	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71494136G>T	ENST00000296755.7	+	5	5252	c.4954G>T	c.(4954-4956)Gaa>Taa	p.E1652*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1652					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.E1652*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATTTGGCCAAGAATCTCCTGA	0.478																																					p.E1652X	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4954T	5						.						114.0	118.0	117.0					5																	71494136		2203	4300	6503	71529892	SO:0001587	stop_gained	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.4954G>T	5.37:g.71494136G>T	ENSP00000296755:p.Glu1652*		71529892	NM_005909	A2BDK5	Nonsense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	46	12.256563	0.99651	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-20.9815	18.7095	0.91651	0.0:0.0:1.0:0.0	.	.	.	.	X	1652	.	ENSP00000296755:E1652X	E	+	1	0	MAP1B	71529892	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.435000	0.82474	0.313000	0.20887	GAA		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71494303	71494303	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71494303G>T	ENST00000296755.7	+	5	5419	c.5121G>T	c.(5119-5121)gaG>gaT	p.E1707D		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1707					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.E1707D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CACCTATGGAGGAGCCGTCCT	0.498																																					p.E1707D	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5121T	5						.						104.0	102.0	103.0					5																	71494303		2203	4300	6503	71530059	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.5121G>T	5.37:g.71494303G>T	ENSP00000296755:p.Glu1707Asp		71530059	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966637	0.18659	.	.	ENSG00000131711	ENST00000296755	T	0.03358	3.96	4.47	2.65	0.31530	.	0.098474	0.44285	D	0.000467	T	0.01800	0.0057	N	0.08118	0	0.36726	D	0.881429	B;B	0.14012	0.009;0.009	B;B	0.14578	0.005;0.011	T	0.48456	-0.9034	10	0.51188	T	0.08	-23.4023	1.6475	0.02764	0.2567:0.1411:0.4577:0.1445	.	1581;1707	A2BDK6;P46821	.;MAP1B_HUMAN	D	1707	ENSP00000296755:E1707D	ENSP00000296755:E1707D	E	+	3	2	MAP1B	71530059	0.974000	0.33945	0.997000	0.53966	0.900000	0.52787	0.073000	0.14640	0.607000	0.29982	0.448000	0.29417	GAG		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
ZNF366	167465	broad.mit.edu	37	5	71756658	71756658	+	Silent	SNP	G	G	A	rs371586695		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:71756658G>A	ENST00000318442.5	-	2	1156	c.666C>T	c.(664-666)agC>agT	p.S222S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	222					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.S222S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGGTCTCCTCGCTCTCCTGGG	0.662																																					p.S222S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666T	5						.	G		0,4406		0,0,2203	88.0	87.0	88.0		666	-0.5	1.0	5		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF366	NM_152625.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		222/745	71756658	2,13004	2203	4300	6503	71792414	SO:0001819	synonymous_variant	167465	exon2			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.666C>T	5.37:g.71756658G>A			71792414	NM_152625	Q5HYI9|Q7RTV4	Silent	SNP	ENST00000318442.5	37	CCDS4015.1																																																																																				0.662	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
FAM169A	26049	broad.mit.edu	37	5	74137451	74137451	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:74137451T>G	ENST00000389156.4	-	2	141	c.51A>C	c.(49-51)gaA>gaC	p.E17D	FAM169A_ENST00000510496.1_Missense_Mutation_p.E17D|FAM169A_ENST00000380515.3_Missense_Mutation_p.E17D	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	17						membrane (GO:0016020)|nucleus (GO:0005634)		p.E17D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CAGCAGAATTTTCCAATTCCT	0.398																																					p.E17D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A51C	5						.						104.0	95.0	98.0					5																	74137451		1845	4099	5944	74173207	SO:0001583	missense	26049	exon2				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.51A>C	5.37:g.74137451T>G	ENSP00000373808:p.Glu17Asp		74173207	NM_015566	A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068348	0.76301	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.61	3.16	0.36331	.	0.075820	0.49916	N	0.000127	T	0.52468	0.1736	L	0.59436	1.845	0.47341	D	0.999398	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.50898	-0.8773	10	0.56958	D	0.05	-12.3526	3.0262	0.06091	0.1763:0.2831:0.0:0.5406	.	17;17	D6RB01;Q9Y6X4	.;F169A_HUMAN	D	17	ENSP00000373808:E17D;ENSP00000424578:E17D;ENSP00000369886:E17D;ENSP00000423631:E17D;ENSP00000423883:E17D;ENSP00000421451:E17D	ENSP00000369886:E17D	E	-	3	2	FAM169A	74173207	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	2.070000	0.41491	0.385000	0.24970	0.477000	0.44152	GAA		0.398	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		
POLK	51426	broad.mit.edu	37	5	74892497	74892497	+	Missense_Mutation	SNP	C	C	T	rs535351080		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:74892497C>T	ENST00000241436.4	+	13	2151	c.1979C>T	c.(1978-1980)tCg>tTg	p.S660L	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S570L|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Missense_Mutation_p.S462L|POLK_ENST00000508526.1_Missense_Mutation_p.S462L	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	660					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S660L(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAAATGTTCTCGTGTTCACAT	0.373								DNA polymerases (catalytic subunits)																													p.S660L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1979T	5						.						85.0	83.0	84.0					5																	74892497		2203	4300	6503	74928253	SO:0001583	missense	51426	exon13			AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1979C>T	5.37:g.74892497C>T	ENSP00000241436:p.Ser660Leu		74928253	NM_016218	B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444338	0.25987	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.56444	1.23;0.46;0.46;1.23	4.96	1.94	0.25998	.	1.603320	0.03736	N	0.254187	T	0.47210	0.1433	L	0.54323	1.7	0.09310	N	1	B;B	0.17465	0.022;0.008	B;B	0.09377	0.004;0.002	T	0.20571	-1.0271	10	0.40728	T	0.16	0.0361	3.9565	0.09391	0.1575:0.5803:0.1639:0.0984	.	462;660	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	L	660;462;462;570	ENSP00000241436:S660L;ENSP00000342256:S462L;ENSP00000426853:S462L;ENSP00000369848:S570L	ENSP00000241436:S660L	S	+	2	0	POLK	74928253	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.371000	0.20450	0.146000	0.19002	0.655000	0.94253	TCG		0.373	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	
F2RL2	2151	broad.mit.edu	37	5	75914392	75914392	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:75914392G>T	ENST00000296641.4	-	2	343	c.140C>A	c.(139-141)tCt>tAt	p.S47Y	IQGAP2_ENST00000274364.6_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.S25Y	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	47					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)	p.S47Y(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CTCTTCAAAAGAATTTGGGGG	0.423																																					p.S47Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C140A	5						.						86.0	97.0	93.0					5																	75914392		2201	4299	6500	75950148	SO:0001583	missense	2151	exon2			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"""GPCR / Class A : Protease activated receptors"""	3539	protein-coding gene	gene with protein product	"""proteinase-activated receptor-3"""	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.140C>A	5.37:g.75914392G>T	ENSP00000296641:p.Ser47Tyr		75950148	NM_004101	B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	ENST00000296641.4	37	CCDS4031.1	.	.	.	.	.	.	.	.	.	.	G	2.303	-0.359793	0.05138	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.65364	-0.15;-0.14	4.65	1.68	0.24146	.	1.155620	0.06477	U	0.732184	T	0.51244	0.1663	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49062	-0.8978	10	0.72032	D	0.01	-4.6145	1.5319	0.02537	0.1749:0.1169:0.3703:0.3379	.	47	O00254	PAR3_HUMAN	Y	47;25	ENSP00000296641:S47Y;ENSP00000426703:S25Y	ENSP00000296641:S47Y	S	-	2	0	F2RL2	75950148	0.000000	0.05858	0.427000	0.26684	0.090000	0.18270	-0.367000	0.07553	0.966000	0.38159	0.563000	0.77884	TCT		0.423	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219958.3		
AP3B1	8546	broad.mit.edu	37	5	77334942	77334942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:77334942G>A	ENST00000255194.6	-	23	2909	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Nonsense_Mutation_p.R863*	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	912					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.R912*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCTATCTTTCGATCAGTAGTG	0.323									Hermansky-Pudlak syndrome																												p.R912X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2734T	5						.						135.0	127.0	130.0					5																	77334942		2203	4300	6503	77370698	SO:0001587	stop_gained	8546	exon23	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2734C>T	5.37:g.77334942G>A	ENSP00000255194:p.Arg912*		77370698	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Nonsense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	43	10.160365	0.99350	.	.	ENSG00000132842	ENST00000255194;ENST00000519295	.	.	.	5.76	2.99	0.34606	.	1.001980	0.08043	N	0.995504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	2.6331	5.9188	0.19070	0.0649:0.1203:0.5657:0.2491	.	.	.	.	X	912;863	.	ENSP00000255194:R912X	R	-	1	2	AP3B1	77370698	0.994000	0.37717	0.260000	0.24451	0.982000	0.71751	2.183000	0.42565	0.343000	0.23821	0.591000	0.81541	CGA		0.323	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
DMGDH	29958	broad.mit.edu	37	5	78322359	78322359	+	Missense_Mutation	SNP	G	G	A	rs369589026		TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:78322359G>A	ENST00000255189.3	-	13	2106	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	DMGDH_ENST00000380311.4_Missense_Mutation_p.A492V|DMGDH_ENST00000540686.1_Missense_Mutation_p.A313V	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	693					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.A693V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTCATACAGCGCCACAGAATC	0.498																																					p.A693V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2078T	5						.	G	VAL/ALA	0,4406		0,0,2203	93.0	85.0	88.0		2078	2.8	0.0	5		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	DMGDH	NM_013391.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	693/867	78322359	1,13005	2203	4300	6503	78358115	SO:0001583	missense	29958	exon13			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2078C>T	5.37:g.78322359G>A	ENSP00000255189:p.Ala693Val		78358115	NM_013391	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	4.132	0.022725	0.08006	0.0	1.16E-4	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.52	2.8	0.32819	Glycine cleavage T-protein, N-terminal (1);	0.502011	0.23716	N	0.045280	T	0.71384	0.3333	M	0.79693	2.465	0.09310	N	1	P;P;B;B	0.43542	0.81;0.777;0.137;0.072	B;B;B;B	0.32342	0.126;0.144;0.04;0.067	T	0.62263	-0.6891	10	0.29301	T	0.29	.	10.3035	0.43667	0.2119:0.0:0.7881:0.0	.	313;492;543;693	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	V	693;532;492;313;543	ENSP00000255189:A693V;ENSP00000430972:A532V;ENSP00000369667:A492V;ENSP00000439478:A313V	ENSP00000255189:A693V	A	-	2	0	DMGDH	78358115	0.811000	0.29063	0.001000	0.08648	0.031000	0.12232	4.061000	0.57485	0.722000	0.32252	-0.224000	0.12420	GCG		0.498	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
CMYA5	202333	broad.mit.edu	37	5	79027472	79027472	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79027472A>C	ENST00000446378.2	+	2	2915	c.2884A>C	c.(2884-2886)Acc>Ccc	p.T962P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	962					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.T962P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCGTATGCAACCCAGGAAGC	0.398																																					p.T962P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2884C	5						.						91.0	85.0	87.0					5																	79027472		1883	4130	6013	79063228	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.2884A>C	5.37:g.79027472A>C	ENSP00000394770:p.Thr962Pro		79063228	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	4.680	0.126345	0.08931	.	.	ENSG00000164309	ENST00000446378	T	0.49720	0.77	5.87	1.79	0.24919	.	0.962520	0.08563	N	0.927225	T	0.54303	0.1850	M	0.76574	2.34	0.09310	N	1	D	0.67145	0.996	P	0.50708	0.648	T	0.41305	-0.9516	10	0.48119	T	0.1	.	6.1022	0.20053	0.6734:0.1478:0.1788:0.0	.	962	Q8N3K9	CMYA5_HUMAN	P	962	ENSP00000394770:T962P	ENSP00000394770:T962P	T	+	1	0	CMYA5	79063228	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.670000	0.25157	0.476000	0.27440	0.533000	0.62120	ACC		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79028825	79028825	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79028825C>A	ENST00000446378.2	+	2	4268	c.4237C>A	c.(4237-4239)Ctt>Att	p.L1413I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1413					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.L1413I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACATTCAGTTCTTGCAGAAGA	0.403																																					p.L1413I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4237A	5						.						33.0	33.0	33.0					5																	79028825		1888	4101	5989	79064581	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.4237C>A	5.37:g.79028825C>A	ENSP00000394770:p.Leu1413Ile		79064581	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	5.692	0.312319	0.10789	.	.	ENSG00000164309	ENST00000446378	T	0.06933	3.24	6.08	1.23	0.21249	.	0.726321	0.11256	N	0.583138	T	0.06325	0.0163	L	0.29908	0.895	0.09310	N	1	P	0.39282	0.666	B	0.37508	0.252	T	0.33214	-0.9877	10	0.72032	D	0.01	.	5.2689	0.15615	0.0:0.5563:0.1371:0.3066	.	1413	Q8N3K9	CMYA5_HUMAN	I	1413	ENSP00000394770:L1413I	ENSP00000394770:L1413I	L	+	1	0	CMYA5	79064581	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.043000	0.13971	-0.057000	0.13199	0.650000	0.86243	CTT		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79029830	79029830	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79029830T>G	ENST00000446378.2	+	2	5273	c.5242T>G	c.(5242-5244)Tta>Gta	p.L1748V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1748					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.L1748V(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TACTTTTTCTTTAAAAGGATT	0.438																																					p.L1748V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5242G	5						.						49.0	48.0	48.0					5																	79029830		1826	4077	5903	79065586	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.5242T>G	5.37:g.79029830T>G	ENSP00000394770:p.Leu1748Val		79065586	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261836	0.39995	.	.	ENSG00000164309	ENST00000446378	T	0.49139	0.79	3.64	3.64	0.41730	.	.	.	.	.	T	0.32376	0.0827	N	0.22421	0.69	0.26503	N	0.974743	P	0.46784	0.884	B	0.43123	0.409	T	0.04593	-1.0940	9	0.15499	T	0.54	.	8.7081	0.34367	0.0:0.0:0.0:1.0	.	1748	Q8N3K9	CMYA5_HUMAN	V	1748	ENSP00000394770:L1748V	ENSP00000394770:L1748V	L	+	1	2	CMYA5	79065586	0.661000	0.27430	0.907000	0.35723	0.378000	0.30076	0.223000	0.17719	1.304000	0.44892	0.460000	0.39030	TTA		0.438	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79031062	79031062	+	Silent	SNP	A	A	G			TCGA-AG-3892-01	TCGA-AG-3892-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79031062A>G	ENST00000446378.2	+	2	6505	c.6474A>G	c.(6472-6474)caA>caG	p.Q2158Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2158					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.Q2158Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACCTACACAACCAAAGGTGG	0.453																																					p.Q2158Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A6474G	5						.						75.0	72.0	73.0					5																	79031062		1875	4107	5982	79066818	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.6474A>G	5.37:g.79031062A>G			79066818	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79031216	79031216	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79031216G>A	ENST00000446378.2	+	2	6659	c.6628G>A	c.(6628-6630)Gta>Ata	p.V2210I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2210					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.V2210I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGTCCATCCGTAGAAAAAGC	0.398																																					p.V2210I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6628A	5						.						114.0	111.0	112.0					5																	79031216		1883	4101	5984	79066972	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.6628G>A	5.37:g.79031216G>A	ENSP00000394770:p.Val2210Ile		79066972	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	10.65	1.409480	0.25378	.	.	ENSG00000164309	ENST00000446378	T	0.19394	2.15	6.16	4.38	0.52667	.	0.939574	0.08847	N	0.885044	T	0.20861	0.0502	L	0.60455	1.87	0.09310	N	1	B	0.33379	0.41	B	0.19666	0.026	T	0.17776	-1.0358	10	0.56958	D	0.05	.	8.9359	0.35700	0.0785:0.1482:0.7733:0.0	.	2210	Q8N3K9	CMYA5_HUMAN	I	2210	ENSP00000394770:V2210I	ENSP00000394770:V2210I	V	+	1	0	CMYA5	79066972	0.103000	0.21917	0.068000	0.19968	0.587000	0.36485	0.718000	0.25866	0.918000	0.36919	0.650000	0.86243	GTA		0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79034299	79034299	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79034299T>G	ENST00000446378.2	+	2	9742	c.9711T>G	c.(9709-9711)taT>taG	p.Y3237*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3237					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.Y3237*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CAGGAATATATTTTGAGAAGT	0.418																																					p.Y3237X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.T9711G	5						.						61.0	59.0	60.0					5																	79034299		1894	4121	6015	79070055	SO:0001587	stop_gained	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9711T>G	5.37:g.79034299T>G	ENSP00000394770:p.Tyr3237*		79070055	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	51	18.454740	0.99905	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.67	4.48	0.54585	.	0.295611	0.24638	N	0.036821	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8456	0.52383	0.0:0.0694:0.0:0.9306	.	.	.	.	X	3237	.	ENSP00000394770:Y3237X	Y	+	3	2	CMYA5	79070055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.509000	0.45459	0.932000	0.37266	0.533000	0.62120	TAT		0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
SPZ1	84654	broad.mit.edu	37	5	79616659	79616659	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79616659G>T	ENST00000296739.4	+	1	870	c.625G>T	c.(625-627)Gat>Tat	p.D209Y		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	209	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.D209Y(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)		TTTTGCAAGAGATTTGGTAAA	0.353																																					p.D209Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625T	5						.						63.0	58.0	59.0					5																	79616659		1820	4070	5890	79652415	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.625G>T	5.37:g.79616659G>T	ENSP00000369611:p.Asp209Tyr		79652415	NM_032567	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778255	0.49786	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.58797	0.31;1.29	4.45	1.49	0.22878	.	1.016950	0.07865	N	0.966985	T	0.64702	0.2622	L	0.47190	1.495	0.09310	N	1	D	0.58268	0.982	P	0.60012	0.867	T	0.51857	-0.8652	10	0.52906	T	0.07	-10.6905	8.2206	0.31539	0.0894:0.3624:0.5482:0.0	.	209	Q9BXG8	SPZ1_HUMAN	Y	209	ENSP00000426530:D209Y;ENSP00000369611:D209Y	ENSP00000369611:D209Y	D	+	1	0	SPZ1	79652415	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.366000	0.20365	0.285000	0.22329	0.563000	0.77884	GAT		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567	
DHFR	1719	broad.mit.edu	37	5	79945224	79945224	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:79945224G>T	ENST00000439211.2	-	3	719	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	DHFR_ENST00000504396.1_Missense_Mutation_p.L24I|DHFR_ENST00000511032.1_Missense_Mutation_p.L76I|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Missense_Mutation_p.L76I	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	76	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)	p.L76I(1)		kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TCTCTGCTGAGAACTAAATTA	0.328																																					p.L76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226A	5						.						57.0	56.0	56.0					5																	79945224		2107	4260	6367	79980980	SO:0001583	missense	1719	exon3				CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.226C>A	5.37:g.79945224G>T	ENSP00000396308:p.Leu76Ile		79980980	NM_000791	B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886745	0.72410	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.41	5.41	0.78517	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	D	0.83732	0.5318	L	0.56199	1.76	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.79784	0.993;0.993;0.993	T	0.82898	-0.0229	8	.	.	.	-8.0414	11.4602	0.50206	0.0839:0.0:0.9161:0.0	.	76;76;76	B4DM58;P00374;B0YJ76	.;DYR_HUMAN;.	I	76;76;76;24	ENSP00000396308:L76I;ENSP00000426474:L76I;ENSP00000422732:L76I;ENSP00000421334:L24I	.	L	-	1	0	DHFR	79980980	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.827000	0.75303	2.524000	0.85096	0.557000	0.71058	CTC		0.328	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791	
RASGRF2	5924	broad.mit.edu	37	5	80409437	80409437	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:80409437G>A	ENST00000265080.4	+	15	2235	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	723	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R723H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CGTCTGTGTCGCAAATTCTCT	0.473																																					p.R723H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2168A	5						.						92.0	94.0	93.0					5																	80409437		2203	4300	6503	80445193	SO:0001583	missense	5924	exon15			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2168G>A	5.37:g.80409437G>A	ENSP00000265080:p.Arg723His		80445193	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912205	0.92178	.	.	ENSG00000113319	ENST00000265080	T	0.78003	-1.14	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.200700	0.53938	D	0.000052	D	0.87838	0.6278	M	0.77103	2.36	0.58432	D	0.999999	D	0.76494	0.999	D	0.64687	0.928	D	0.89117	0.3500	10	0.72032	D	0.01	.	18.6673	0.91495	0.0:0.0:1.0:0.0	.	723	O14827	RGRF2_HUMAN	H	723	ENSP00000265080:R723H	ENSP00000265080:R723H	R	+	2	0	RASGRF2	80445193	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.430000	0.97488	2.498000	0.84270	0.650000	0.86243	CGC		0.473	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
RASGRF2	5924	broad.mit.edu	37	5	80515554	80515554	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:80515554G>A	ENST00000265080.4	+	26	3645	c.3578G>A	c.(3577-3579)cGc>cAc	p.R1193H	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1193	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1193H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAGAGATACGCCAGTTCCAG	0.343																																					p.R1193H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3578A	5						.						82.0	82.0	82.0					5																	80515554		2203	4300	6503	80551310	SO:0001583	missense	5924	exon26			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3578G>A	5.37:g.80515554G>A	ENSP00000265080:p.Arg1193His		80551310	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380955	0.95945	.	.	ENSG00000113319	ENST00000265080	T	0.31769	1.48	5.68	5.68	0.88126	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	P	0.55508	0.777	T	0.55592	-0.8117	10	0.72032	D	0.01	.	19.7831	0.96426	0.0:0.0:1.0:0.0	.	1193	O14827	RGRF2_HUMAN	H	1193	ENSP00000265080:R1193H	ENSP00000265080:R1193H	R	+	2	0	RASGRF2	80551310	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.687000	0.91594	0.561000	0.74099	CGC		0.343	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
ZCCHC9	84240	broad.mit.edu	37	5	80600765	80600765	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:80600765G>T	ENST00000254037.2	+	1	3344	c.189G>T	c.(187-189)aaG>aaT	p.K63N	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.K63N|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.K63N|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.K63N			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	63	Poly-Lys.				negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K63N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		AGAACAAAAAGAAAAAAGAGT	0.373																																					p.K63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G189T	5						.						70.0	70.0	70.0					5																	80600765		2203	4300	6503	80636521	SO:0001583	missense	84240	exon2			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.189G>T	5.37:g.80600765G>T	ENSP00000254037:p.Lys63Asn		80636521	NM_001131036	B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260596	0.80246	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.18	5.18	0.71444	.	0.148065	0.56097	D	0.000021	T	0.61837	0.2379	M	0.65498	2.005	0.54753	D	0.999986	D	0.63880	0.993	P	0.53954	0.738	T	0.66404	-0.5932	10	0.72032	D	0.01	-14.7519	18.6578	0.91460	0.0:0.0:1.0:0.0	.	63	Q8N567	ZCHC9_HUMAN	N	63	ENSP00000254037:K63N;ENSP00000385047:K63N;ENSP00000369546:K63N;ENSP00000412637:K63N	ENSP00000254037:K63N	K	+	3	2	ZCCHC9	80636521	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.803000	0.62546	2.544000	0.85801	0.655000	0.94253	AAG		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280	
VCAN	1462	broad.mit.edu	37	5	82816219	82816219	+	Silent	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:82816219T>G	ENST00000265077.3	+	7	2659	c.2094T>G	c.(2092-2094)acT>acG	p.T698T	VCAN_ENST00000342785.4_Silent_p.T698T|VCAN_ENST00000512590.2_Silent_p.T650T|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	698	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.T698T(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)	GAACAGATACTTATACAGATG	0.353																																					p.T698T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2094G	5						.						53.0	55.0	54.0					5																	82816219		2188	4294	6482	82851975	SO:0001819	synonymous_variant	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.2094T>G	5.37:g.82816219T>G			82851975	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.353	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82816938	82816938	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:82816938C>A	ENST00000265077.3	+	7	3378	c.2813C>A	c.(2812-2814)tCt>tAt	p.S938Y	VCAN_ENST00000342785.4_Missense_Mutation_p.S938Y|VCAN_ENST00000512590.2_Missense_Mutation_p.S890Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	938	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.S938Y(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)	AAGCCAGTATCTACTGTTCCC	0.438																																					p.S938Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2813A	5						.						133.0	123.0	127.0					5																	82816938		2203	4300	6503	82852694	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.2813C>A	5.37:g.82816938C>A	ENSP00000265077:p.Ser938Tyr		82852694	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049301	0.19827	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.23950	1.88;1.88;1.88	5.77	4.68	0.58851	.	0.332151	0.25820	N	0.028098	T	0.36054	0.0953	L	0.57536	1.79	0.25771	N	0.984831	D;P	0.59767	0.986;0.904	P;B	0.54100	0.742;0.36	T	0.19976	-1.0289	10	0.54805	T	0.06	.	9.3833	0.38327	0.0:0.871:0.0:0.129	.	938;938	P13611-3;P13611	.;CSPG2_HUMAN	Y	938;938;890	ENSP00000265077:S938Y;ENSP00000342768:S938Y;ENSP00000425959:S890Y	ENSP00000265077:S938Y	S	+	2	0	VCAN	82852694	0.162000	0.22906	0.066000	0.19879	0.132000	0.20833	2.839000	0.48207	1.094000	0.41399	0.655000	0.94253	TCT		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82817254	82817254	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:82817254G>A	ENST00000265077.3	+	7	3694	c.3129G>A	c.(3127-3129)gaG>gaA	p.E1043E	VCAN_ENST00000342785.4_Silent_p.E1043E|VCAN_ENST00000512590.2_Silent_p.E995E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1043	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.E1043E(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)	AGACTGCAGAGAAACCAGTTC	0.468																																					p.E1043E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3129A	5						.						47.0	45.0	45.0					5																	82817254		2203	4300	6503	82853010	SO:0001819	synonymous_variant	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.3129G>A	5.37:g.82817254G>A			82853010	NM_001164098	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82836565	82836565	+	Missense_Mutation	SNP	T	T	A	rs75771891	byFrequency	TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:82836565T>A	ENST00000265077.3	+	8	8308	c.7743T>A	c.(7741-7743)gaT>gaA	p.D2581E	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D1594E|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2581	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.D2581E(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)	TAGATATTGATCATACTAAAC	0.343																																					p.D1594E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4782A	5						.						66.0	68.0	67.0					5																	82836565		2203	4300	6503	82872321	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.7743T>A	5.37:g.82836565T>A	ENSP00000265077:p.Asp2581Glu		82872321	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487666	0.64074	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.58940	0.3;0.3	6.04	2.48	0.30137	.	0.000000	0.64402	D	0.000004	T	0.67316	0.2880	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.63950	-0.6521	10	0.45353	T	0.12	.	8.1049	0.30879	0.0:0.2229:0.0:0.7771	.	1594;2581	P13611-2;P13611	.;CSPG2_HUMAN	E	2581;1594	ENSP00000265077:D2581E;ENSP00000340062:D1594E	ENSP00000265077:D2581E	D	+	3	2	VCAN	82872321	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	1.300000	0.33436	0.547000	0.28938	-0.371000	0.07208	GAT		0.343	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
MEF2C	4208	broad.mit.edu	37	5	88018519	88018519	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:88018519C>T	ENST00000437473.2	-	11	1741	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	MEF2C_ENST00000424173.2_Missense_Mutation_p.E432K|MEF2C_ENST00000340208.5_Missense_Mutation_p.E452K|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514028.1_Missense_Mutation_p.E442K|MEF2C_ENST00000510942.1_Missense_Mutation_p.E434K|MEF2C_ENST00000539796.1_Missense_Mutation_p.E386K|MEF2C_ENST00000514015.1_Missense_Mutation_p.E410K|MEF2C_ENST00000504921.2_Missense_Mutation_p.E442K|MEF2C_ENST00000508569.1_Missense_Mutation_p.E402K|CTC-467M3.1_ENST00000510274.1_RNA	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	442					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.E442K(2)|p.E432K(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)		GAGTGGAATTCGTTCCGGTGA	0.582										HNSCC(66;0.2)																											p.E442K												MEF2C,lung,NS,Substitution - Missense,0	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.G1324A	5						.						151.0	158.0	156.0					5																	88018519		2024	4180	6204	88054275	SO:0001583	missense	4208	exon11			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.1324G>A	5.37:g.88018519C>T	ENSP00000396219:p.Glu442Lys		88054275	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257651	0.59321	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T	0.64618	0.23;0.22;0.25;0.23;0.23;0.23;-0.11;-0.11;0.65	5.47	5.47	0.80525	.	0.140035	0.64402	D	0.000004	T	0.52533	0.1740	N	0.22421	0.69	0.58432	D	0.999993	B;P;P;B	0.39551	0.164;0.678;0.589;0.093	B;B;B;B	0.37601	0.03;0.254;0.054;0.04	T	0.59380	-0.7465	10	0.72032	D	0.01	-1.9866	19.3051	0.94158	0.0:1.0:0.0:0.0	.	432;452;442;434	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	452;432;442;442;442;434;402;410;386	ENSP00000340874:E452K;ENSP00000389610:E432K;ENSP00000421925:E442K;ENSP00000426665:E442K;ENSP00000396219:E442K;ENSP00000422390:E434K;ENSP00000423597:E402K;ENSP00000424606:E410K;ENSP00000441153:E386K	ENSP00000340874:E452K	E	-	1	0	MEF2C	88054275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.723000	0.93209	0.655000	0.94253	GAA		0.582	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
GPR98	84059	broad.mit.edu	37	5	89938788	89938788	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:89938788T>C	ENST00000405460.2	+	13	2579	c.2483T>C	c.(2482-2484)gTa>gCa	p.V828A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	828	Calx-beta 6. {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.V828A(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)		AACACGGGAGTACTAGAATTT	0.428																																					p.V828A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2483C	5						.						134.0	127.0	129.0					5																	89938788		1836	4084	5920	89974544	SO:0001583	missense	84059	exon13			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.2483T>C	5.37:g.89938788T>C	ENSP00000384582:p.Val828Ala		89974544	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360402	0.61403	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28069	1.63	5.16	5.16	0.70880	Na-Ca exchanger/integrin-beta4 (1);	0.159061	0.53938	D	0.000044	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	P	0.52316	0.952	B	0.43445	0.42	T	0.05649	-1.0872	10	0.66056	D	0.02	.	14.9991	0.71459	0.0:0.0:0.0:1.0	.	828	Q8WXG9	GPR98_HUMAN	A	828	ENSP00000384582:V828A	ENSP00000296619:V828A	V	+	2	0	GPR98	89974544	0.998000	0.40836	0.234000	0.24042	0.870000	0.49936	7.413000	0.80104	1.945000	0.56424	0.482000	0.46254	GTA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:90087050C>T	ENST00000405460.2	+	70	14500	c.14404C>T	c.(14404-14406)Cga>Tga	p.R4802*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.R463*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4802					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.R4802*(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)		TGTTGGGCTTCGAATATCATC	0.463																																					p.R4802X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C14404T	5						.						52.0	50.0	50.0					5																	90087050		1989	4166	6155	90122806	SO:0001587	stop_gained	84059	exon70			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.14404C>T	5.37:g.90087050C>T	ENSP00000384582:p.Arg4802*		90122806	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	55	24.910598	0.99962	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	.	.	.	5.9	5.02	0.67125	.	0.565396	0.19055	N	0.123938	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9875	0.80174	0.0:0.8652:0.1348:0.0	.	.	.	.	X	4802;4802;463	.	ENSP00000296619:R4802X	R	+	1	2	GPR98	90122806	0.056000	0.20664	0.011000	0.14972	0.640000	0.38277	1.045000	0.30341	1.468000	0.48064	0.655000	0.94253	CGA		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90136422	90136422	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:90136422C>T	ENST00000405460.2	+	78	16735	c.16639C>T	c.(16639-16641)Cgt>Tgt	p.R5547C	GPR98_ENST00000425867.2_Missense_Mutation_p.R1208C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5547					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.R5547C(2)		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)		AACAATTGGTCGTACCATCAT	0.388																																					p.R5547C												MASS1,central_nervous_system,brain,Substitution - Missense,-1	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C16639T	5						.						74.0	73.0	74.0					5																	90136422		1905	4125	6030	90172178	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.16639C>T	5.37:g.90136422C>T	ENSP00000384582:p.Arg5547Cys		90172178	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801004	0.50315	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.31769	1.48;1.49	6.16	6.16	0.99307	.	0.094899	0.85682	D	0.000000	T	0.54398	0.1856	L	0.60455	1.87	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.70016	0.928;0.759;0.967	T	0.35151	-0.9800	9	.	.	.	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1208;5547;1208	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	5547;5547;1208	ENSP00000384582:R5547C;ENSP00000392618:R1208C	.	R	+	1	0	GPR98	90172178	0.878000	0.30173	0.313000	0.25210	0.087000	0.18053	3.318000	0.51975	2.937000	0.99478	0.650000	0.86243	CGT		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
KIAA0825	285600	broad.mit.edu	37	5	93856010	93856010	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:93856010G>A	ENST00000329378.7	-	5	1162	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	KIAA0825_ENST00000513200.3_Missense_Mutation_p.R305C|KIAA0825_ENST00000312498.7_Missense_Mutation_p.R305C|KIAA0825_ENST00000427991.2_Missense_Mutation_p.R305C	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	305								p.R305C(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTAACCACACGAACAGCATTT	0.358																																					p.R305C												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C913T	5						.						60.0	59.0	60.0					5																	93856010		2203	4299	6502	93881766	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.913C>T	5.37:g.93856010G>A	ENSP00000331385:p.Arg305Cys		93881766	NM_001145678	O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441820	0.43326	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.86030	0.88;0.88;-2.06;-2.06	4.81	3.02	0.34903	.	1.917730	0.01683	N	0.026294	D	0.87245	0.6129	L	0.36672	1.1	0.09310	N	1	B;D	0.71674	0.007;0.998	B;P	0.56700	0.003;0.804	T	0.71517	-0.4569	10	0.59425	D	0.04	.	8.5601	0.33505	0.0813:0.1533:0.7654:0.0	.	305;305	Q8IV33;Q8IV33-2	K0825_HUMAN;.	C	305	ENSP00000424618:R305C;ENSP00000400288:R305C;ENSP00000312205:R305C;ENSP00000331385:R305C	ENSP00000312205:R305C	R	-	1	0	KIAA0825	93881766	0.579000	0.26725	0.358000	0.25811	0.757000	0.42996	2.851000	0.48302	0.626000	0.30322	-0.515000	0.04445	CGT		0.358	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
MCTP1	79772	broad.mit.edu	37	5	94204080	94204080	+	Silent	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:94204080G>A	ENST00000515393.1	-	17	2393	c.2394C>T	c.(2392-2394)tgC>tgT	p.C798C	MCTP1_ENST00000429576.2_Silent_p.C531C|MCTP1_ENST00000505208.1_Silent_p.C577C|MCTP1_ENST00000505078.1_Silent_p.C314C|MCTP1_ENST00000312216.8_Silent_p.C577C	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	798					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.C798C(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CCCAATCAAAGCAACTATTAA	0.358																																					p.C577C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1731T	5						.						81.0	71.0	74.0					5																	94204080		2203	4300	6503	94229836	SO:0001819	synonymous_variant	79772	exon17				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2394C>T	5.37:g.94204080G>A			94229836	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1																																																																																				0.358	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
ELL2	22936	broad.mit.edu	37	5	95236709	95236709	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:95236709G>A	ENST00000237853.4	-	6	1166	c.817C>T	c.(817-819)Cct>Tct	p.P273S	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	273					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.P273S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTGTATCCAGGCCAGTCTCTT	0.348																																					p.P273S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C817T	5						.						84.0	89.0	87.0					5																	95236709		2203	4299	6502	95262465	SO:0001583	missense	22936	exon6			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.817C>T	5.37:g.95236709G>A	ENSP00000237853:p.Pro273Ser		95262465	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614620	0.87359	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.37411	1.2;1.2	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70454	-0.4867	10	0.87932	D	0	-11.9205	19.0238	0.92925	0.0:0.0:1.0:0.0	.	273	O00472	ELL2_HUMAN	S	273;91	ENSP00000237853:P273S;ENSP00000423915:P91S	ENSP00000237853:P273S	P	-	1	0	ELL2	95262465	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.580000	0.87095	0.561000	0.74099	CCT		0.348	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
MAPK9	5601	broad.mit.edu	37	5	179663384	179663384	+	Nonstop_Mutation	SNP	T	T	G			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr5:179663384T>G	ENST00000452135.2	-	12	1573	c.1275A>C	c.(1273-1275)tgA>tgC	p.*425C	MAPK9_ENST00000393360.3_3'UTR|MAPK9_ENST00000343111.6_3'UTR|MAPK9_ENST00000455781.1_Nonstop_Mutation_p.*425C|MAPK9_ENST00000347470.4_Nonstop_Mutation_p.*340C			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	0					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.*425C(1)		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)			TTCTAACCTATCATCGACAGC	0.493																																					p.X425C												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A1275C	5						.						94.0	79.0	84.0					5																	179663384		2203	4300	6503	179595990	SO:0001578	stop_lost	5601	exon12			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.1275A>C	5.37:g.179663384T>G	ENSP00000394560:p.*425Trpext*1		179595990	NM_139070	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Read-through	SNP	ENST00000452135.2	37	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637625	0.67130	.	.	ENSG00000050748	ENST00000452135;ENST00000455781;ENST00000347470	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1024	0.81184	0.0:0.0:0.0:1.0	.	.	.	.	C	425;425;340	.	.	X	-	3	0	MAPK9	179595990	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	6.151000	0.71806	2.200000	0.70718	0.459000	0.35465	TGA		0.493	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
RNF170	81790	broad.mit.edu	37	8	42743015	42743015	+	Splice_Site	SNP	C	C	A	rs75479673		TCGA-AG-3892-01	TCGA-AG-3892-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr8:42743015C>A	ENST00000534961.1	-	2	470		c.e2-1		RNF170_ENST00000527424.1_Splice_Site|RNF170_ENST00000319104.3_Splice_Site|RNF170_ENST00000319073.4_Splice_Site|RNF170_ENST00000526349.1_Splice_Site	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170						protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CATTCCAGGTCTAAAATAAGA	0.328																																					.												.	.	0			.	8						.						73.0	66.0	68.0					8																	42743015		2203	4300	6503	42862172	SO:0001630	splice_region_variant	81790	.			AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.7-1G>T	8.37:g.42743015C>A			42862172	.	D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Splice_Site	SNP	ENST00000534961.1	37	CCDS6138.1																																																																																				0.328	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954	Intron
OSTCP1	202459	broad.mit.edu	37	6	159262837	159262837	+	RNA	SNP	G	G	T			TCGA-AG-3892-01	TCGA-AG-3892-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr6:159262837G>T	ENST00000522287.1	-	0	506					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1									p.F92L(1)									CGAATCCAATGAATAGAAGAA	0.408																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						86.0	87.0	87.0					6																	159262837		2203	4300	6503	159182825			202459	.			BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159262837G>T			159182825	.		Missense_Mutation	SNP	ENST00000522287.1	37																																																																																					0.408	OSTCP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042884.2	NM_145303	
CAPS2	84698	broad.mit.edu	37	12	75672749	75672749	+	Intron	SNP	T	T	C			TCGA-AG-3892-01	TCGA-AG-3892-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-3892-01	TCGA-AG-3892-01	g.chr12:75672749T>C	ENST00000409445.3	-	18	1866				RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.D357G|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000442339.2_Missense_Mutation_p.D179G	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding (GO:0005509)	p.D357G(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TTCATAGTAATCTTCAAATTC	0.338																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						115.0	112.0	113.0					12																	75672749		2203	4296	6499	73959016	SO:0001627	intron_variant	84698	.			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1670-2722A>G	12.37:g.75672749T>C			73959016	.	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316206	0.81469	.	.	ENSG00000180881	ENST00000393284;ENST00000442339	T;T	0.25749	1.78;1.85	5.9	5.9	0.94986	.	0.391080	0.18210	U	0.148220	T	0.33847	0.0877	.	.	.	0.53005	D	0.999961	P;P	0.37548	0.599;0.516	B;B	0.42030	0.091;0.373	T	0.07501	-1.0769	9	0.62326	D	0.03	.	16.3232	0.82961	0.0:0.0:0.0:1.0	.	179;357	A2RRN2;Q9BXY5-2	.;.	G	357;179	ENSP00000376963:D357G;ENSP00000389633:D179G	ENSP00000376963:D357G	D	-	2	0	CAPS2	73959016	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.059000	0.57470	2.254000	0.74563	0.482000	0.46254	GAT		0.338	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		
